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Structure : Identifiant HAL de la structure : 21362

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

Salima El Chehadeh , Julien Thevenon , Paul Kuentz , Ange-Line Bruel , Christel Thauvin-Robinet et al.
European Journal of Human Genetics, 2016, 25 (1), pp.43-51. ⟨10.1038/ejhg.2016.133⟩
Article dans une revue hal-01464336v1

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Aurélien Juven , Sophie Nambot , Amélie Piton , Nolwenn Jean-Marçais , Alice Masurel et al.
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0582-3⟩
Article dans une revue hal-02883449v1

Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

Alexandra Gauthier-Vasserot , Christel Thauvin-Robinet , Ange-Line Bruel , Yannis Duffourd , Judith Saint-Onge et al.
American Journal of Medical Genetics Part A, 2016, ⟨10.1002/ajmg.a.37969⟩
Article dans une revue hal-01410416v1

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

F. Bonnet , A Andrieux , D Béri-Dexheimer , L Leheup , B Boute et al.
Journal of Medical Genetics, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩
Article dans une revue hal-02128729v1

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.

Isabelle Perrault , Nathalie Delphin , Sylvain Hanein , Sylvie Gerber , Jean-Louis Dufier et al.
Human Mutation, 2007, 28 (4), pp.416. ⟨10.1002/humu.9485⟩
Article dans une revue hal-00346360v1

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

Salima El Chehadeh , Julien Thevenon , Jean-Baptiste Rivière , Yannis Duffourd , Laurence Faivre et al.
Prenatal Diagnosis, 2016, ⟨10.1002/pd.4965⟩
Article dans une revue istex hal-01457570v1
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Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations

Natacha Lehman , Anne-Claire Mazery , Antoine Visier , Clarisse Baumann , Dominique Lachesnais et al.
Clinical Genetics, 2017, 92 (3), pp.298-305. ⟨10.1111/cge.13010⟩
Article dans une revue hal-01560204v1
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Delineating FOXG1 syndrome

Nancy Vegas , Mara Cavallin , Camille Maillard , Nathalie Boddaert , Joseph Toulouse et al.
Neurology Genetics, 2018, 4 (6), pp.e281. ⟨10.1212/NXG.0000000000000281⟩
Article dans une revue hal-01920261v1

Pseudohypoparathyroïdie : Distorsion du ratio de transmission maternelle des mutations perte de fonction de GNAS

Sarah Snanoudj , Arnaud Molin , Cindy Colson , Nadia Coudray , Sylvie Paulien et al.
10èmes Assises de Génétique Humaine et Médicale, Jan 2020, Tours, France
Communication dans un congrès hal-02436511v1

Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.

Estelle Lopez , Patrick Callier , Valérie Cormier-Daire , Didier Lacombe , Anne Moncla et al.
American Journal of Medical Genetics Part A, 2012, 158A (2), pp.333-9. ⟨10.1002/ajmg.a.34401⟩
Article dans une revue istex inserm-00662892v1

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Salima El Chehadeh , Nathalie Marle , Patrick Callier , Anne-Laure Mosca-Boidron , Francine Mugneret et al.
Clinical Genetics, 2016, ⟨10.1111/cge.12898⟩
Article dans une revue hal-01452730v1