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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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Deafness: from genetic architecture to gene therapy
Christine Petit
,
Crystel Bonnet
,
Saaïd Safieddine
Article dans une revue
pasteur-04097478
v1
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Usher Syndrome and Color Vision
Anne Kurtenbach
,
Gesa Hahn
,
Christoph Kernstock
,
Stephanie Hipp
,
Ditta Zobor
et al.
Article dans une revue
pasteur-03219639
v1
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
Usher syndrome (sensorineural deafness and retinitis pigmentosa)
Crystel Bonnet
,
Aziz El-Amraoui
Article dans une revue
pasteur-03926783
v1
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|