Josseline Kaplan
Kaplan, Josseline
VIAF ID: 5059662 (Personal)
Permalink: http://viaf.org/viaf/5059662
Preferred Forms
- 100 0 _ ‡a Josseline Kaplan
- 200 _ | ‡a Kaplan ‡b Josseline
- 100 1 _ ‡a Kaplan, Josseline
- 100 1 _ ‡a Kaplan, Josseline
4xx's: Alternate Name Forms (2)
Works
Title | Sources |
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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe | |
Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease | |
CARTOGRAPHIE GENETIQUE DES DYSTROPHIES RETINIENNES LES PLUS GRAVES DE L'ENFANT | |
Characterization and potential treatment for retinal degeneration in mouse models of four emblematic ciliopathies | |
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling | |
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. | |
Consultation de génétique bilan de sept années d'expérience à la Clinique de génétique médicale | |
CONTRIBUTION A L'ETUDE GENETIQUE DE LA DEGENERESCENCE MACULAIRE LIEE A L'AGE | |
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA. | |
Eight previously unidentified mutations found in the OA1 ocular albinism gene | |
Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin | |
Expanding CEP290 mutational spectrum in ciliopathies | |
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype | |
From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum | |
LE GENE ABCR : HOMOGENEITE GENETIQUE VERSUS HETEROGENEITE CLINIQUE, UN PARADOXE AU SEIN DES DYSTROPHIES RETINIENNES HEREDITAIRES : UN MODELE DE CORRELATIONS génotype-phénotype | |
Genetic optic neuropathies : localisation of a first gene responsible for isolated autosomal recessive optic atrophy : ROA1 and identification of a third locus for dominant optic atrophy : OPA5. | |
Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles | |
High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features | |
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 | |
Identification et validation de nouveaux gènes impliqués dans les maladies neurosensorielles et neurologiques. | |
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. | |
Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? | |
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells | |
L'AMAUROSE CONGENITALE DE LEBER : DEMEMBREMENT GENETIQUE D'UNE CECITE HEREDITAIRE ET DIVERSITE PHYSIOPATHOLOGIQUE | |
Leber congenital amaurosis: from darkness to spotlight | |
Leber congenital amaurosis: retinol dehydrogenases are the culprit | |
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations | |
Molecular and pathophysiological basis of diseases hereditary eye : Work of creating a transgenic rodent daytime model Stargardt disease : Identification of a novel gene of anophthalmia. | |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia. | |
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. | |
Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12). | |
Mutations in DNM1L, as in OPA1, result indominant optic atrophy despite opposite effectson mitochondrial fusion and fission. | |
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness | |
[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy]. | |
Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. | |
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. | |
NDP gene mutations in 14 French families with Norrie disease. | |
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults | |
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern | |
Novel B3GALTL mutation in Peters-plus Syndrome. | |
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France | |
A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis | |
Oeil et génétique [rapport présenté à la] Société française d'ophtalmologie | |
Pattern dystrophy in a female carrier of RP2 mutation. | |
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example | |
Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). | |
R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population | |
Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome | |
Refinement of the NHS locus on chromosome Xp22.13 and analysis of five candidate genes | |
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. | |
Reply: The expanding neurological phenotype of DNM1L-related disorders | |
Retinochoroidal Anastomosis Associated With Enhanced S-cone Syndrome | |
rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration | |
Secondary creatine deficiency in ornithine delta-aminotransferase deficiency. | |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy | |
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype | |
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. | |
Submicroscopic deletions at 13q32.1 cause congenital microcoria | |
Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network | |
Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort | |
Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy | |
TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy | |
TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane | |
Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype | |
USH1A: chronicle of a slow death |