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Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic NeuropathiesMutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophySpectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeMolecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration.Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessR102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French populationRefinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes.The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Submicroscopic deletions at 13q32.1 cause congenital microcoria.AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation.IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory networkMultimodal analysis of the progression of Best vitelliform macular dystrophy.High-resolution array-CGH in patients with oculocutaneous albinism identifies new deletions of the TYR, OCA2, and SLC45A2 genes and a complex rearrangement of the OCA2 gene.Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example.Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.Cone dysfunction as a paraneoplastic syndrome associated with retinal antigens approximating 40 kiloDalton.Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.The ABCA4 gene in autosomal recessive cone-rod dystrophies.Secondary creatine deficiency in ornithine delta-aminotransferase deficiency.Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].Novel B3GALTL mutation in Peters-plus Syndrome.[Leber congenital amaurosis: retinol dehydrogenases are the culprit].A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype.
P50
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P50
description
researcher ORCID: 0000-0002-1849-8658
@en
wetenschapper
@nl
name
Josseline Kaplan
@ast
Josseline Kaplan
@en
Josseline Kaplan
@es
Josseline Kaplan
@nl
type
label
Josseline Kaplan
@ast
Josseline Kaplan
@en
Josseline Kaplan
@es
Josseline Kaplan
@nl
altLabel
Josseline KAPLAN
@en
prefLabel
Josseline Kaplan
@ast
Josseline Kaplan
@en
Josseline Kaplan
@es
Josseline Kaplan
@nl
P1053
I-2622-2017
P106
P21
P31
P496
0000-0002-1849-8658