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A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophySpectrum of ABCR gene mutations in autosomal recessive macular dystrophiesSpectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotypeRetinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-GolgiA first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessComplete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.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.Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.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.A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.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.Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype.[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation].The ABCA4 gene in autosomal recessive cone-rod dystrophies.A retGC-1 mutation in autosomal dominant cone-rod dystrophy.Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin.[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.[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.Ciliome resequencing: A lifeline for molecular diagnosis in LCA.Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].
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researcher ORCID: 0000-0002-8560-1379
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Isabelle Perrault
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P1053
H-3047-2017
P106
P21
P31
P496
0000-0002-8560-1379