Lista de obras - Sylvie Gerber - Dominio Público Uruguay

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

artículo científico publicado en 2003

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

artículo científico publicado en 2006

A gene for Leber's congenital amaurosis maps to chromosome 17p

artículo científico publicado en 1995

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

article

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

artículo científico publicado en 1999

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

artículo científico publicado en 2002

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

artículo científico publicado en 2005

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

artículo científico publicado en 1998

ABCR gene analysis in familial exudative age-related macular degeneration

scientific article published on 01 January 2000

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

artículo científico publicado en 2013

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

artículo científico publicado en 2010

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study

artículo científico publicado en 1999

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

artículo científico publicado en 2001

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

artículo científico publicado en 2016

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

artículo científico publicado en 1993

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

artículo científico publicado en 2006

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

artículo científico publicado en 2002

DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR

artículo científico publicado en 1994

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

artículo científico publicado en 2002

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

artículo científico publicado en 2003

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

artículo científico publicado en 1998

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

artículo científico publicado en 1995

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa

artículo científico publicado en 1994

Genetic heterogeneity of Usher syndrome type 1 in French families.

artículo científico publicado en 1994

Incomplete penetrance of biallelic ALDH1A3 mutations

artículo científico publicado en 2016

Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update

artículo científico publicado en 2005

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

artículo científico publicado en 2012

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

artículo científico publicado en 2007

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

artículo científico publicado en 2012

Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy

artículo científico publicado en 2014

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

artículo científico publicado en 2007

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

artículo científico publicado en 2015

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

artículo científico publicado en 2016

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

artículo científico publicado en 2004

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

artículo científico publicado en 1996

Severe manifestations in carrier females in X linked retinitis pigmentosa ⬇️

artículo científico publicado el 1 de octubre de 1997

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

artículo científico publicado en 2012

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

artículo científico publicado en 1998

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

artículo científico publicado en 2007

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

artículo científico publicado en 2010

Submicroscopic deletions at 13q32.1 cause congenital microcoria

artículo científico publicado en 2015

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

artículo científico publicado en 2013

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

artículo científico publicado en 2009

The ABCA4 gene in autosomal recessive cone-rod dystrophies

artículo científico publicado en 2002

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

artículo científico publicado en 2000

Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.

artículo científico publicado en 1998

USH1A: chronicle of a slow death

artículo científico publicado en 2006

[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa]

scientific article published on 01 January 1996

Lista de obras de Sylvie Gerber

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q21-q22.

A gene for Leber's congenital amaurosis maps to chromosome 17p

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis

A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype

A retGC-1 mutation in autosomal dominant cone-rod dystrophy.

ABCR gene analysis in familial exudative age-related macular degeneration

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations.

Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study

Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis.

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy.

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.

Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene.

DsaI polymorphism at the human cone transducin alpha-subunit (GNAT2) detected by PCR

Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin

Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele.

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's disease

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa

Genetic heterogeneity of Usher syndrome type 1 in French families.

Incomplete penetrance of biallelic ALDH1A3 mutations

Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update

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

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

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset 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

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

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

Severe manifestations in carrier females in X linked retinitis pigmentosa ⬇️

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

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

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

Submicroscopic deletions at 13q32.1 cause congenital microcoria

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

The ABCA4 gene in autosomal recessive cone-rod dystrophies

The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition.

Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa.

USH1A: chronicle of a slow death

[Rapid demonstration of mutations previously identified in parents at risk of patients with autosomic dominant retinitis pigmentosa]