Lista de obras - Isabelle Perrault - 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 X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3

artículo científico publicado en 1999

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

artículo científico publicado en 2014

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

artículo científico publicado en 2016

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

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

artículo científico publicado en 2019

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

artículo científico publicado en 2012

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

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

artículo científico publicado en 2012

Ciliome resequencing: A lifeline for molecular diagnosis in LCA.

artículo científico publicado en 2015

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

artículo científico publicado en 2024

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

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

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

Expanding CEP290 mutational spectrum in ciliopathies

artículo científico publicado en 2009

First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation

artículo científico publicado en 2010

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

artículo científico publicado en 2005

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

artículo científico publicado en 2015

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

artículo científico publicado en 2015

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

artículo científico publicado en 2017

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: retinol dehydrogenases are the culprit

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

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

article

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

artículo científico publicado en 2014

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 NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy

artículo científico publicado en 2013

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

artículo científico publicado en 1998

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

artículo científico publicado en 2015

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

artículo científico publicado en 2016

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

artículo científico publicado en 2007

Prenatal human ocular degeneration occurs in Leber's Congenital Amaurosis (LCA1 and 2).

artículo científico publicado en 2003

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

artículo científico publicado en 2002

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

artículo científico publicado en 2013

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

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

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 phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

artículo científico publicado en 2004

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

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype

artículo científico publicado en 2013

Lista de obras de Isabelle Perrault

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

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

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

AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction?

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

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

Alteration of nephrocystins and IFT-A proteins causes similar ciliary phenotypes leading to Nephronophthisis.

Ciliome resequencing: A lifeline for molecular diagnosis in LCA.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

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

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.

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.

Expanding CEP290 mutational spectrum in ciliopathies

First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells

LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13.

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: retinol dehydrogenases are the culprit

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

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

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 NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy

Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy.

Mutations of IFT81, encoding an IFT-B core protein, as a rare cause of a ciliopathy.

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

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 (LCA1 and 2).

Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2).

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.

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 ⬇️

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

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 phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

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

Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype