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List of works by Isabelle Perrault

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

scientific article published on 01 December 2003

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

scientific article published in January 2006

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

scientific article

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

scientific article published on January 2014

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

scientific article

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

scientific article (publication date: December 2002)

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

scientific article published in February 2005

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

scientific article published in August 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?

scientific article published on 14 May 2019

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

scientific article

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

scientific article published on 30 August 2010

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

scientific article published on 01 August 1999

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

scientific article

Ciliome resequencing: A lifeline for molecular diagnosis in LCA.

scientific article published on 13 July 2015

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

scientific article published on 25 April 2024

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

scientific article

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

scientific article published on January 2006

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

scientific article published in April 2002

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

scientific article published in October 2002

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

scientific article

Expanding CEP290 mutational spectrum in ciliopathies

scientific article published on 01 October 2009

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

scientific article published on 6 January 2010

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

scientific article published in September 2005

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

scientific article

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

scientific article published on September 2015

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

scientific article

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

scientific article

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

scientific article

Leber congenital amaurosis: retinol dehydrogenases are the culprit

scientific article published in December 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

scientific article published on 01 January 2006

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

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

scientific article

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

scientific article published in December 2007

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

scientific article

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

scientific article published in July 1998

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

scientific article published on 13 July 2015

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

scientific article

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

scientific article published on 8 August 2007

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

scientific article

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

scientific article

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

scientific article

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

scientific article

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

scientific article

Severe manifestations in carrier females in X linked retinitis pigmentosa ⬇️

scientific article published on October 1, 1997

Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies

scientific article

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

scientific article

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

scientific article published in March 2010

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

scientific article published on 13 March 2013

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

scientific article

The ABCA4 gene in autosomal recessive cone-rod dystrophies

scientific article published in December 2002

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations

scientific article

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

scientific article

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

scientific article

[Mutations in NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy].

scientific article

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