Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Isabelle Perrault, Jean‐Michel Rozet, Patrick Calvas, +14

Nature Genetics

Ocular DiseaseRetinaMendelian DisorderOphthalmologyGenetics +3

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

Gilles Courtois, Asma Smahi, Janine Reichenbach, +17

Journal of Clinical Investigation

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis

Sylvain Hanein, Isabelle Perrault, S. Gerber, +15

Human Mutation

Diversity of <i>RET</i> proto-oncogene mutations in familial and sporadic Hirschsprung disease

Tania Attié‐Bitach, Anna Pelet, Patrick Edery, +9

Human Molecular Genetics

The γ e4 allele of the apolipoprotein E gene as a potential protective factor for exudative age-related macular degeneration

Eric H. Souied, Pascale Benlian, Philippe Amouyel, +6

American Journal of Ophthalmology

Potential Protective FactorOcular DiseaseOphthalmologyGeneticsAge-related Diseases +7

Structure and Organization of the Human Survival Motor Neurone (SMN) Gene

Lydie Bürglen, Suzie Lefebvre, Olivier Clermont, +5

Genomics

Neurodegenerative DiseasesNeuroregenerationDevelopmental BiologyMolecular NeuroscienceNeuroanatomy +7

A gene for hereditary multiple exostoses maps to chromosome 19p

Marline Le Merrer, Laurence Legeai‐Mallet, Patricia Margaritte Jeannin, +7

Human Molecular Genetics

Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6

Christelle Golzio, Jelena Martinovic-Bouriel, Sophie Thomas, +10

The American Journal of Human Genetics

Developmental AnomalyMendelian DisorderGenetic DisorderGeneticsPathology +5

Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC)

Annick Raas‐Rothschild, Valérie Cormier‐Daire, Ming Bao, +9

Journal of Clinical Investigation

Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis

Isabelle Perrault, Sylvain Hanein, S. Gerber, +8

The American Journal of Human Genetics

Ocular DiseaseRetinaOphthalmologyGenetic DisorderGenetics +3