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            Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder
        
                            
                                                                                                            Amal Bouzid
                                                                ,
                                                                                                                                Malek Belcadhi
                                                                ,
                                                                                                                                Amal Souissi
                                                                ,
                                                                                                                                Meryam Chelly
                                                                ,
                                                                                                                                Fakher Frikha
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-05002930
                                            v1
                                    
            
        
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            Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families
        
                            
                                                                                                            Assia Idyahia
                                                                ,
                                                                                                                                Salaheddine Redouan
                                                                ,
                                                                                                                                Ghita Amalou
                                                                ,
                                                                                                                                Hicham Charoute
                                                                ,
                                                                                                                                Houda Harmak
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691611
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
        
                            
                                                                                                            Rahma Mkaouar
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Jihene Marrakchi
                                                                ,
                                                                                                                                Nessrine Mezzi
                                                                ,
                                                                                                                                Lilia Romdhane
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691608
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
        
                            
                                                                                                            Rahma Mkaouar
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Jihene Marrakchi
                                                                ,
                                                                                                                                Nessrine Mezzi
                                                                ,
                                                                                                                                Lilia Romdhane
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691609
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Biallelic variants in TMIE and PDE6B genes mimic Usher syndrome
        
                            
                                                                                                            Samia Abdi
                                                                ,
                                                                                                                                Mohamed Makrelouf
                                                                ,
                                                                                                                                Issa Nazim Rous
                                                                ,
                                                                                                                                Kheireddine Ounnoughi
                                                                ,
                                                                                                                                Akila Zenati
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691606
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
        
                            
                                                                                                            Malak Salame
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Amrit Singh-Estivalet
                                                                ,
                                                                                                                                Selma Mohamed Brahim
                                                                ,
                                                                                                                                Solene Roux
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691612
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Genetic variation of TLR3 gene is associated with the outcome of hepatitis b infection in mauritanian patients: case control study
        
                            
                                                                                                            Tetou Soumbara
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Cheikh Tijani Hamed
                                                                ,
                                                                                                                                Fatimetou Veten
                                                                ,
                                                                                                                                Mohamed Hemeyine
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04691607
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Deafness: from genetic architecture to gene therapy
        
                            
                                                                                                            Christine Petit
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Saaïd Safieddine
                                                                                    
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04097478
                                            v1
                                    
            
        
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            Identification a novel pathogenic LRTOMT mutation in Mauritanian families with nonsyndromic deafness
        
                            
                                                                                                            Malak Salame
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Ely Cheikh Mohamed Moctar
                                                                ,
                                                                                                                                Selma Mohamed Brahim
                                                                ,
                                                                                                                                Abdallahi Dedy
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04053511
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Single-cell transcriptomic profiling of the mouse cochlea: An atlas for targeted therapies
        
                            
                                                                                                            Philippe Jean
                                                                ,
                                                                                                                                Fabienne Wong Jun Tai
                                                                ,
                                                                                                                                Amrit Singh-Estivalet
                                                                ,
                                                                                                                                Andrea Lelli
                                                                ,
                                                                                                                                Cyril Scandola
                                                                                            et al.
                            
                 
                            Proceedings of the National Academy of Sciences of the United States of America, 2023, 120 (26), pp.e2221744120.  ⟨10.1073/pnas.2221744120⟩ 
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04309088
                                            v1
                                    
            
        
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            Novel pathogenic WHRN variant causing hearing loss in a moroccan family
        
                            
                                                                                                            Imane Aitraise
                                                                ,
                                                                                                                                Ghita Amalou
                                                                ,
                                                                                                                                Salaheddine Redouane
                                                                ,
                                                                                                                                Hicham Charoute
                                                                ,
                                                                                                                                Khalid Snoussi
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04281535
                                            v1
                                    
            
        
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            Homozygous Missense Variants in FOXI1 and TMPRSS3 Genes Associated with Non-syndromic Deafness in Moroccan Families
        
                            
                                                                                                            Imane Aitraise
                                                                ,
                                                                                                                                Ghita Amalou
                                                                ,
                                                                                                                                Amina Bakhchane
                                                                ,
                                                                                                                                Amale Bousfiha
                                                                ,
                                                                                                                                Houria Abdelghaffar
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04235312
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Retinal Phenotype of Patients with <i>CLRN1</i>-Associated Usher 3A Syndrome in French Light4Deaf Cohort
        
                            
                                                                                                            Vasily M Smirnov
                                                                ,
                                                                                                                                Marco Nassisi
                                                                ,
                                                                                                                                Saddek Mohand-Saïd
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Anne Aubois
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03954493
                                            v1
                                    
            
        
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    | 
        
                                                 
                        
                     
                                    
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            Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco
        
                            
                                                                                                            Imane Aitraise
                                                                ,
                                                                                                                                Ghita Amalou
                                                                ,
                                                                                                                                Amale Bousfiha
                                                                ,
                                                                                                                                Hicham Charoute
                                                                ,
                                                                                                                                Hassan Rouba
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03985530
                                            v1
                                    
            
        
     | 
                                                                                
    | 
        
                            
                    
     | 
        
        
            Screening of BRCA1/2 variants in Mauritanian breast cancer patients
        
                            
                                                                                                            Selma Mohamed Brahim
                                                                ,
                                                                                                                                Ekht Elbenina Zein
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Cheikh Tijani Hamed
                                                                ,
                                                                                                                                Malak Salame
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04072696
                                            v1
                                    
            
        
     | 
                                                                                
    | 
        
                                                
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            A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family
        
                            
                                                                                                            Ghita Amalou
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Aymane Bouzidi
                                                                ,
                                                                                                                                Soukaina Elrharchi
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03215242
                                            v1
                                    
            
        
     | 
                                                                                
    | 
        
                                                
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            Novel Mutation in AIFM1 Gene Associated with X-Linked Deafness in a Moroccan Family
        
                            
                                                                                                            Soukaina Elrharchi
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Sara Salime
                                                                ,
                                                                                                                                Hicham Charoute
                                                                ,
                                                                                                                                Lamiae Elkhattabi
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219602
                                            v1
                                    
            
        
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            Contributions of Age-Related and Audibility-Related Deficits to Aided Consonant Identification in Presbycusis: A Causal-Inference Analysis
        
                            
                                                                                                            Léo Varnet
                                                                ,
                                                                                                                                Agnès C Léger
                                                                ,
                                                                                                                                Sophie Boucher
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Christine Petit
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03154679
                                            v1
                                    
            
        
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            Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush
        
                            
                                                                                                            Ana Fakin
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Anne Kurtenbach
                                                                ,
                                                                                                                                Saddek Mohand-Said
                                                                ,
                                                                                                                                Ditta Zobor
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03417248
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Mutated CCDC51 Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy
        
                            
                                                                                                            Christina Zeitz
                                                                ,
                                                                                                                                Cécile Méjécase
                                                                ,
                                                                                                                                Christelle Michiels
                                                                ,
                                                                                                                                Christel Condroyer
                                                                ,
                                                                                                                                Juliette Wohlschlegel
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    inserm-03841438
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Phylogenetic analysis of Harmonin homology domains
        
                            
                                                                                                            Baptiste Colcombet-Cazenave
                                                                ,
                                                                                                                                Karen Druart
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Christine Petit
                                                                ,
                                                                                                                                Olivier Spérandio
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03200406
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.
        
                            
                                                                                                            Mouna Hadrami
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Christina Zeitz
                                                                ,
                                                                                                                                Fatimetou Veten
                                                                ,
                                                                                                                                Med Biya
                                                                                            et al.
                            
                 
                            Molecular Vision, 2021, 25, pp.373-381 
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219621
                                            v1
                                    
            
        
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    | 
        
                            
                    
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            Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
        
                            
                                                                                                            Rahma Mkaouar
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Cherine Charfeddine
                                                                ,
                                                                                                                                Imen Chelly
                                                                ,
                                                                                                                                Hela Boudabbous
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04072687
                                            v1
                                    
            
        
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    | 
        
                                                 
                        
                     
                                    
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            Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis
        
                            
                                                                                                            Sophie Boucher
                                                                ,
                                                                                                                                Fabienne Wong Jun Tai
                                                                ,
                                                                                                                                Sedigheh Delmaghani
                                                                ,
                                                                                                                                Andrea Lelli
                                                                ,
                                                                                                                                Amrit Singh-Estivalet
                                                                                            et al.
                            
                 
                            Proceedings of the National Academy of Sciences of the United States of America, 2020, 117 (49), pp.31278-31289.  ⟨10.1073/pnas.2010782117⟩ 
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03215054
                                            v1
                                    
            
        
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            ATP6V1B1 recurrent mutations in Algerian deaf patients associated with renal tubular acidosis
        
                            
                                                                                                            Malika Dahmani
                                                                ,
                                                                                                                                Sonia Talbi
                                                                ,
                                                                                                                                Fatima Ammar-Khodja
                                                                ,
                                                                                                                                Sofiane Ouhab
                                                                ,
                                                                                                                                Farid Boudjenah
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219608
                                            v1
                                    
            
        
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            Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene
        
                            
                                                                                                            Olaia Subirà
                                                                ,
                                                                                                                                Jaume Català-Mora
                                                                ,
                                                                                                                                Jesús Díaz-Cascajosa
                                                                ,
                                                                                                                                Noel Padrón-Pérez
                                                                ,
                                                                                                                                M. Claveria
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219607
                                            v1
                                    
            
        
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            PHENOTYPIC CHARACTERISTICS OF ROD–CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT
        
                            
                                                                                                            Samer Khateb
                                                                ,
                                                                                                                                Saddek Mohand-Saïd
                                                                ,
                                                                                                                                Marco Nassisi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Anne-Françoise Roux
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03215234
                                            v1
                                    
            
        
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            Further Evidence for the Implication of the MET Gene in Non-Syndromic Autosomal Recessive Deafness
        
                            
                                                                                                            Amale Bousfiha
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Lamiae Elkhattabi
                                                                ,
                                                                                                                                Amina Bakhchane
                                                                ,
                                                                                                                                Hicham Charoute
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219615
                                            v1
                                    
            
        
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            Double Hyperautofluorescent Rings in Patients with USH2A-Retinopathy
        
                            
                                                                                                            Ana Fakin
                                                                ,
                                                                                                                                Maja Šuštar
                                                                ,
                                                                                                                                Jelka Brecelj
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Christine Petit
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-02408154
                                            v1
                                    
            
        
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            The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions
        
                            
                                                                                                            Sonia Talbi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Farid Boudjenah
                                                                ,
                                                                                                                                Mohammed Tahar Mansouri
                                                                ,
                                                                                                                                Christine Petit
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219629
                                            v1
                                    
            
        
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            Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study
        
                            
                                                                                                            Katarina Stingl
                                                                ,
                                                                                                                                Anne Kurtenbach
                                                                ,
                                                                                                                                Gesa Hahn
                                                                ,
                                                                                                                                Christoph Kernstock
                                                                ,
                                                                                                                                Stephanie Hipp
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219625
                                            v1
                                    
            
        
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            A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene
        
                            
                                                                                                            Marwa Sayeb
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Nadia Laroussi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Lilia Romdhane
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219630
                                            v1
                                    
            
        
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     | 
        
        
            A novel missense mutation of GJA8 causes congenital cataract in a large Mauritanian family
        
                            
                                                                                                            Mouna Hadrami
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Fatimetou Veten
                                                                ,
                                                                                                                                Christina Zeitz
                                                                ,
                                                                                                                                Christel Condroyer
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-01990091
                                            v1
                                    
            
        
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    | 
        
                            
                    
     | 
        
        
            Clinical and Haplotypic Variability of Slovenian USH2A Patients Homozygous for the c. 11864G>A Nonsense Mutation
        
                            
                                                                                                            Andrej Zupan
                                                                ,
                                                                                                                                Ana Fakin
                                                                ,
                                                                                                                                Saba Battelino
                                                                ,
                                                                                                                                Martina Jarc-Vidmar
                                                                ,
                                                                                                                                Marko Hawlina
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-02417524
                                            v1
                                    
            
        
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            High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5
        
                            
                                                                                                            Justine Lerat
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                François Cartault
                                                                ,
                                                                                                                                Natalie Loundon
                                                                ,
                                                                                                                                Marie‐line Jacquemont
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-03233582
                                            v1
                                    
            
        
     | 
                                                                                
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            Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome
        
                            
                                                                                                            Soukaina Elrharchi
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Sara Salime
                                                                ,
                                                                                                                                Halima Nahili
                                                                ,
                                                                                                                                Hassan Rouba
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04309116
                                            v1
                                    
            
        
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    | 
        
                                                
     | 
        
        
            A novel mutation in SLITRK6 causes deafness and myopia in a Moroccan family
        
                            
                                                                                                            Sara Salime
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Soukaina Elrharchi
                                                                ,
                                                                                                                                Lamiae Elkhattabi
                                                                ,
                                                                                                                                Hicham Charoute
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219641
                                            v1
                                    
            
        
     | 
                                                                                
    | 
        
                                                
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            Genetic heterogeneity of congenital hearing impairment in Algerians from the Ghardaïa province
        
                            
                                                                                                            Sonia Talbi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Farid Boudjenah
                                                                ,
                                                                                                                                Malika Dahmani
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219637
                                            v1
                                    
            
        
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    | 
        
                                                
     | 
        
        
            Usher Syndrome and Color Vision
        
                            
                                                                                                            Anne Kurtenbach
                                                                ,
                                                                                                                                Gesa Hahn
                                                                ,
                                                                                                                                Christoph Kernstock
                                                                ,
                                                                                                                                Stephanie Hipp
                                                                ,
                                                                                                                                Ditta Zobor
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219639
                                            v1
                                    
            
        
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            FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases
        
                            
                                                                                                            Antoine Paul
                                                                ,
                                                                                                                                Anthony Drecourt
                                                                ,
                                                                                                                                Floriane Petit
                                                                ,
                                                                                                                                Delphine Dupin Deguine
                                                                ,
                                                                                                                                Christelle Vasnier
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-02391701
                                            v1
                                    
            
        
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            A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders
        
                            
                                                                                                            Amale Bousfiha
                                                                ,
                                                                                                                                Amina Bakhchane
                                                                ,
                                                                                                                                Hicham Charoute
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Khalid Snoussi
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219646
                                            v1
                                    
            
        
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            CLINICAL PRESENTATION AND DISEASE COURSE OF USHER SYNDROME BECAUSE OF MUTATIONS IN MYO7A OR USH2A
        
                            
                                                                                                            Francesco Testa
                                                                ,
                                                                                                                                Paolo Melillo
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Vincenzo Marcelli
                                                                ,
                                                                                                                                Antonella de Benedictis
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03219649
                                            v1
                                    
            
        
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            Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome
        
                            
                                                                                                            Samia Abdi
                                                                ,
                                                                                                                                Amel Bahloul
                                                                ,
                                                                                                                                Asma Behlouli
                                                                ,
                                                                                                                                Jean-Pierre Hardelin
                                                                ,
                                                                                                                                Mohamed Makrelouf
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-01388303
                                            v1
                                    
            
        
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            An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Zied Riahi
                                                                ,
                                                                                                                                Sandra Chantot-Bastaraud
                                                                ,
                                                                                                                                Luce Smagghe
                                                                ,
                                                                                                                                Mélanie Letexier
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03215026
                                            v1
                                    
            
        
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            Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness
        
                            
                                                                                                            Sedigheh Delmaghani
                                                                ,
                                                                                                                                Asadollah Aghaie
                                                                ,
                                                                                                                                Yosra Bouyacoub
                                                                ,
                                                                                                                                Hala El Hachmi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-01329650
                                            v1
                                    
            
        
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            Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis
        
                            
                                                                                                            Imen Ben-Rebeh
                                                                ,
                                                                                                                                Mhamed Grati
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Walid Bouassida
                                                                ,
                                                                                                                                Imen Hadjamor
                                                                                            et al.
                            
                 
                            Molecular Vision, 2016, 22, pp.827-35 
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04309124
                                            v1
                                    
            
        
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            Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing
        
                            
                                                                                                            Fatima Ammar-Khodja
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Malika Dahmani
                                                                ,
                                                                                                                                Sofiane Ouhab
                                                                ,
                                                                                                                                Gaelle Lefèvre
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04309219
                                            v1
                                    
            
        
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            Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients.
        
                            
                                                                                                            Zied Riahi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Rim Zainine
                                                                ,
                                                                                                                                Saida Lahbib
                                                                ,
                                                                                                                                Yosra Bouyacoub
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-01221041
                                            v1
                                    
            
        
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            EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
        
                            
                                                                                                            Malika Dahmani
                                                                ,
                                                                                                                                Fatima Ammar-Khodja
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Gaëlle M Lefèvre
                                                                ,
                                                                                                                                Jean-Pierre Hardelin
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-01188064
                                            v1
                                    
            
        
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            Specific aspects of consanguinity: some examples from the tunisian population.
        
                            
                                                                                                            Lilia Romdhane
                                                                ,
                                                                                                                                Nizar Ben Halim
                                                                ,
                                                                                                                                Insaf Rejeb
                                                                ,
                                                                                                                                Rym Kefi
                                                                ,
                                                                                                                                Yosra Bouyacoub
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-01061190
                                            v1
                                    
            
        
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            Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.
        
                            
                                                                                                            Zied Riahi
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Rim Zainine
                                                                ,
                                                                                                                                Malek Louha
                                                                ,
                                                                                                                                Yosra Bouyacoub
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-01060192
                                            v1
                                    
            
        
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            EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness.
        
                            
                                                                                                            Asma Behlouli
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Samia Abdi
                                                                ,
                                                                                                                                Aïcha Bouaita
                                                                ,
                                                                                                                                Andrea Lelli
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    inserm-00986102
                                            v1
                                    
            
        
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            The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells
        
                            
                                                                                                            Elise Pepermans
                                                                ,
                                                                                                                                Michel Vittot
                                                                ,
                                                                                                                                Richard Goodyear
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Samia Abdi
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-01237053
                                            v1
                                    
            
        
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            A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.
        
                            
                                                                                                            Zied Riahi
                                                                ,
                                                                                                                                Houda Chahed
                                                                ,
                                                                                                                                Habib Jaafoura
                                                                ,
                                                                                                                                Rim Zainine
                                                                ,
                                                                                                                                Olfa Messaoud
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
                    istex
        
        
            
                
                    pasteur-00861211
                                            v1
                                    
            
        
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            Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                M. Louha
                                                                ,
                                                                                                                                N. Loundon
                                                                ,
                                                                                                                                N. Michalski
                                                                ,
                                                                                                                                E. Verpy
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
                    istex
        
        
            
                
                    pasteur-04309222
                                            v1
                                    
            
        
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            Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.
        
                            
                                                                                                            Zied Riahi
                                                                ,
                                                                                                                                Rim Zainine
                                                                ,
                                                                                                                                Yosra Mellouli
                                                                ,
                                                                                                                                Raja Hannachi
                                                                ,
                                                                                                                                Yosra Bouyacoub
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
                    istex
        
        
            
                
                    pasteur-00860772
                                            v1
                                    
            
        
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            Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
        
                            
                                                                                                            Sedigheh Delmaghani
                                                                ,
                                                                                                                                Asadollah Aghaie
                                                                ,
                                                                                                                                Nicolas Michalski
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Dominique Weil
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-01472843
                                            v1
                                    
            
        
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            Usher syndrome (sensorineural deafness and retinitis pigmentosa)
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Aziz El-Amraoui
                                                                                    
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-03926783
                                            v1
                                    
            
        
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            Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2
        
                            
                                                                                                            Ana Fakin
                                                                ,
                                                                                                                                Martina Jarc-Vidmar
                                                                ,
                                                                                                                                Damjan Glavač
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Christine Petit
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-04309231
                                            v1
                                    
            
        
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            Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                M'Hamed Grati
                                                                ,
                                                                                                                                Sandrine Marlin
                                                                ,
                                                                                                                                Jacqueline Levilliers
                                                                ,
                                                                                                                                Jean-Pierre Hardelin
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    pasteur-00663885
                                            v1
                                    
            
        
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            Temperature-sensitive auditory neuropathy associated with an otoferlin mutation: Deafening fever!
        
                            
                                                                                                            Sandrine Marlin
                                                                ,
                                                                                                                                Delphine Feldmann
                                                                ,
                                                                                                                                Yann Nguyen
                                                                ,
                                                                                                                                Isabelle Rouillon
                                                                ,
                                                                                                                                Natalie Loundon
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
                    istex
        
        
            
                
                    pasteur-04309241
                                            v1
                                    
            
        
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            Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct
        
                            
                                                                                                            Laurence Jonard
                                                                ,
                                                                                                                                Magali Niasme-Grare
                                                                ,
                                                                                                                                Crystel Bonnet
                                                                ,
                                                                                                                                Delphine Feldmann
                                                                ,
                                                                                                                                Isabelle Rouillon
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
                    istex
        
        
            
                
                    pasteur-04309238
                                            v1
                                    
            
        
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            The optimized allotopic expression of ND1 or ND4 genes restores respiratory chain complex I activity in fibroblasts harboring mutations in these genes
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Sébastien Augustin
                                                                ,
                                                                                                                                Sami Ellouze
                                                                ,
                                                                                                                                Paule Bénit
                                                                ,
                                                                                                                                Aicha Bouaita
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04828374
                                            v1
                                    
            
        
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            Allotopic mRNA localization to the mitochondrial surface rescues respiratory chain defects in fibroblasts harboring mtDNA mutations affecting complex I or V subunits
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Valérie Kaltimbacher
                                                                ,
                                                                                                                                Sami Ellouze
                                                                ,
                                                                                                                                Sébastien Augustin
                                                                ,
                                                                                                                                Paule Bénit
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04838132
                                            v1
                                    
            
        
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            Localisation des ARNm sur la surface mitochondriale : outil pour le traitement de pathologies rétiniennes dues à des mutations de l'ADN mitochondrial
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Valérie Kaltimbacher
                                                                ,
                                                                                                                                Sami Ellouze
                                                                ,
                                                                                                                                Valérie Forster
                                                                ,
                                                                                                                                José-Alain Sahel
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04828379
                                            v1
                                    
            
        
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            Differential Binding Regulation of Microtubule-associated Proteins MAP1A, MAP1B, and MAP2 by Tubulin Polyglutamylation
        
                            
                                                                                                            Crystel Bonnet
                                                                ,
                                                                                                                                Dominique Boucher
                                                                ,
                                                                                                                                Sylvie Lazereg
                                                                ,
                                                                                                                                Barbara Pedrotti
                                                                ,
                                                                                                                                Khalid Islam
                                                                                            et al.
                            
                 
                            
                 Article dans une revue
                    
        
        
            
                
                    hal-04828383
                                            v1
                                    
            
        
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