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Impact of SMAD6 Variants on Neurodevelopment in Craniosynostosis
Isabelle Verlut
,
Sofia Guernouche
,
Massimiliano Rossi
,
Alexandru Szathmari
,
Pierre A Beuriat
et al.
Article dans une revue
hal-05290669
v1
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Real-World Safety and Effectiveness of Vosoritide in Children with Achondroplasia: French Early Access Program
Valérie Cormier-Daire
,
Thomas Edouard
,
Bertrand Isidor
,
Swati Mukherjee
,
Jeanne M Pimenta
et al.
Article dans une revue
hal-05290775
v1
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Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
Pauline Marzin
,
Sophie Rondeau
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Jean-Luc Alessandri
,
Klaus Dieterich
,
Carine Le Goff
et al.
Article dans une revue
hal-05290787
v1
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Resolving structural variations missed by short-read sequencing uncovers their pathogenicity
Caroline Schluth-Bolard
,
Laïla El Khattabi
,
Pierre Antoine Rollat Farnier
,
Nicolas Chatron
,
Marion Beaumont
et al.
Article dans une revue
hal-05246796
v1
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Eléonore Viora-Dupont
,
Françoise Robert
,
Aline Chassagne
,
Aurore Pélissier
,
Stéphanie Staraci
et al.
Article dans une revue
hal-05290652
v1
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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder ( MRXSHG )
Mohammad‐reza Ghasemi
,
Sahand Tehrani Fateh
,
Afif Ben-Mahmoud
,
Vijay Gupta
,
Lara Stühn
et al.
Article dans une revue
hal-04980410
v1
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Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
Thomas Husson
,
François Lecoquierre
,
Gaël Nicolas
,
Anne-Claire Richard
,
Alexandra Afenjar
et al.
Article dans une revue
hal-05290645
v2
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Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes
Alexandre Guilhem
,
Severine Ruet
,
Patrick Edery
,
Cecile Acquaviva
,
Massimiliano Rossi
Article dans une revue
(data paper)
hal-04892293
v1
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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of <i>CNKSR2</i> in the Houge Type of X‐Linked Syndromic Intellectual Development Disorder (MRXSHG)
Mohammad‐reza Ghasemi
,
Sahand Tehrani Fateh
,
Afif Ben‐mahmoud
,
Vijay Gupta
,
Lara G Stühn
et al.
Article dans une revue
hal-05290769
v1
|
|
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Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)
Eléonore Viora-Dupont
,
Françoise Robert
,
Aline Chassagne
,
Aurore Pélissier
,
Stéphanie Staraci
et al.
Article dans une revue
hal-05121483
v1
|
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Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes
Alexandre Guilhem
,
Severine Ruet
,
Patrick Edery
,
Cecile Acquaviva
,
Massimiliano Rossi
Article dans une revue
hal-05290644
v1
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Clinical and genetic characterization of a progressive <i>RBL2</i>-associated neurodevelopmental disorder
Gabriel N Aughey
,
Elisa Cali
,
Reza Maroofian
,
Maha S Zaki
,
Alistair T Pagnamenta
et al.
Article dans une revue
hal-05290610
v1
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Lessons from two series by physicians and caregivers' self‐reported data in DDX3X ‐related disorders
Valentin Ruault
,
Pauline Burger
,
Johanna Gradels-Hauguel
,
Nathalie Ruiz
,
Rami Abou Jamra
et al.
Article dans une revue
hal-04567616
v1
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Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions
Vassilis Sideropoulos
,
Jo van Herwegen
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Ben Meuleman
,
Michael Alessandri
,
Faisal M Alnemary
et al.
Article dans une revue
hal-05290581
v1
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Clinical interest of molecular study in cases of isolated midline craniosynostosis
Federico Di Rocco
,
Massimiliano Rossi
,
Isabelle Verlut
,
Alexandru Szathmari
,
Pierre Aurélien Beuriat
et al.
Article dans une revue
hal-05290624
v1
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Low risk of embryonic and other cancers in <i>PIK3CA</i>‐related overgrowth spectrum: Impact on screening recommendations
Laurence Faivre
,
Jean‐charles Crépin
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Manon Réda
,
Sophie Nambot
,
Virginie Carmignac
et al.
Article dans une revue
hal-05290738
v1
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Jérémie Courraud
,
Camille Engel
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Angélique Quartier
,
Nathalie Drouot
,
Ursula Houessou
et al.
Article dans une revue
hal-05290745
v1
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
Anne-Sophie Denommé-Pichon
,
Leslie Matalonga
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Elke de Boer
,
Adam Jackson
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Elisa Benetti
et al.
Article dans une revue
hal-05290572
v1
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CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature
Flavien Rouxel
,
Raissa Relator
,
Jennifer Kerkhof
,
Haley Mcconkey
,
Michael Levy
et al.
Article dans une revue
hal-04587703
v1
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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
Daphné Lehalle
,
Ange‐line Bruel
,
Antonio Vitobello
,
Anne‐sophie Denommé‐pichon
,
Yannis Duffourd
et al.
Article dans une revue
hal-05290783
v1
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Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies
Ravi Savarirayan
,
Josep Maria de Bergua
,
Paul Arundel
,
Helen Mcdevitt
,
Valerie Cormier-Daire
et al.
Article dans une revue
hal-05290673
v1
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New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia
Sara Cabet
,
Alexandru Szathmari
,
Carmine Mottolese
,
Patricia Franco
,
Laurent Guibaud
et al.
Article dans une revue
hal-05290750
v1
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<i>GGCX</i>‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata
Alix Mathonnet
,
Séverine Cunat
,
Fabienne Allias
,
Sandrine Caillot
,
Cyrielle Thonnon
et al.
Article dans une revue
hal-05290658
v1
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Clinical delineation of SETBP1 haploinsufficiency disorder
Nadieh A Jansen
,
Ruth O Braden
,
Siddharth Srivastava
,
Erin F Otness
,
Gaetan Lesca
et al.
Article dans une revue
hal-05290620
v1
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10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France
Claude Messiaen
,
Caroline Racine
,
Ahlem Khatim
,
Louis Soussand
,
Sylvie Odent
et al.
Article dans une revue
hal-05290398
v1
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Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials
Aurore Garde
,
Laurent Guibaud
,
Alice Goldenberg
,
Florence Petit
,
Rodolphe Dard
et al.
Article dans une revue
hal-05290616
v1
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Association of Genetic Syndrome and Chest Tumor: Is it Just A Coincidence?
Hani Saiedi
,
Massimiliano Rossi
,
Corinne Collet
,
Pauline Monin
,
Francois Tronc
et al.
Article dans une revue
hal-05290598
v1
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Effects of eight neuropsychiatric copy number variants on human brain structure
Claudia Modenato
,
Kuldeep Kumar
,
Clara Moreau
,
Sandra Martin-Brevet
,
Guillaume Huguet
et al.
Article dans une revue
hal-05290641
v1
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Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach
Thomas Quinaux
,
Viola Custodi
,
Audrey Putoux
,
Justine Bacchetta
,
Massimiliano Rossi
et al.
Article dans une revue
hal-05290777
v1
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Growth charts in Cockayne syndrome type 1 and type 2
Sarah Baer
,
Nicolas Tuzin
,
Peter B Kang
,
Shehla Mohammed
,
Masaya Kubota
et al.
Article dans une revue
hal-05290660
v1
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De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature
Sophie Nambot
,
Laurence Faivre
,
Ghayda Mirzaa
,
Julien Thevenon
,
Ange-Line Bruel
et al.
Article dans une revue
hal-05320321
v1
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Telemedicine strategy of the European Reference Network ITHACA for the diagnosis and management of patients with rare developmental disorders
Michael Smith
,
Elizabeth Alexander
,
Ruta Marcinkute
,
Dorica Dan
,
Myfanwy Rawson
et al.
Article dans une revue
hal-05290780
v1
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Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals
Henri Margot
,
Guilaine Boursier
,
Claire Duflos
,
Elodie Sanchez
,
Jeanne Amiel
et al.
Article dans une revue
hal-05290665
v1
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Postnatal clinical phenotype of five patients with Pallister–Killian Syndrome (tetrasomy 12p): Interest of array CGH for diagnosis and review of the literature
Amerh Salem Alqahtani
,
Audrey Putoux
,
Marie Noelle Bonnet Dupeyron
,
Maryline Carneiro
,
Laurence Lion‐francois
et al.
Article dans une revue
(data paper)
hal-05123008
v1
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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Julie Masson
,
Caroline Demily
,
Nicolas Chatron
,
Audrey Labalme
,
Pierre-Antoine Rollat-Farnier
et al.
Article dans une revue
(data paper)
hal-04892404
v1
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16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations
Laïla Allach El Khattabi
,
Solveig Heide
,
Jean-Hubert Caberg
,
Joris Andrieux
,
Martine Doco Fenzy
et al.
Article dans une revue
hal-05290566
v1
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Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations
Julie Coton
,
Audrey Labalme
,
Marianne Till
,
Gerald Bussy
,
Sonia Krifi Papoz
et al.
Article dans une revue
hal-04480033
v1
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Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions
Marie-Laure Mathieu
,
Caroline Demily
,
Sandra Chantot-Bastaraud
,
Alexandra Afenjar
,
Cyril Mignot
et al.
Article dans une revue
(data paper)
inserm-04094444
v1
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing.
Paul Kuentz
,
Judith Saint-Onge
,
Yannis Duffourd
,
Jean-Benoît Courcet
,
Virginie Carmignac
et al.
Article dans une revue
hal-01560452
v1
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Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network
Nicolas Chassaing
,
Erica E. Davis
,
Kelly L. Mcknight
,
Adrienne R. Niederriter
,
Alexandre Causse
et al.
Article dans une revue
hal-01282340
v1
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Perspectives actuelles dans la microdélétion 22q11.2 : prise en charge du phénotype neurocomportemental
Caroline Demily
,
M. Rossi
,
M. Schneider
,
P. Edery
,
Arnaud Leleu
et al.
Article dans une revue
hal-01205624
v1
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ZEB2, a new candidate gene for asplenia.
Linda Pons
,
Sophie Dupuis-Girod
,
Marie-Pierre Cordier
,
Patrick Edery
,
Massimiliano Rossi
Article dans une revue
inserm-00927620
v1
|