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List of works by Jean-michel Rozet

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 Leber's congenital amaurosis maps to chromosome 17p

scientific article published on 01 August 1995

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

article

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q

scientific article (publication date: December 1992)

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

scientific article

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

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

Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies.

scientific article published on January 2016

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemia

scientific article published on 01 August 1995

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 abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).

scientific article published in May 2001

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

scientific article

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease

scientific article

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

scientific article published on 28 December 2016

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

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

scientific article published on 01 December 1993

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

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

scientific article published on 01 June 1994

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

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13.

scientific article published in June 1996

Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosis

scientific article published in March 1998

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosa

scientific article published on 01 December 1998

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

scientific article published on 01 April 1995

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

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

scientific article published on 01 August 1994

From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum

scientific article

Genetic architecture of retinoic-acid signaling-associated ocular developmental defects

scientific article published on 29 July 2019

Genetic heterogeneity of Usher syndrome type 1 in French families.

scientific article

Hereditary macular dystrophies

scientific article

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

scientific article published in July 1994

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

scientific article

Identification of the molecular bases of retinal dystrophies: two divergent situations and their implications

scientific article published in January 2009

Incomplete penetrance of biallelic ALDH1A3 mutations

scientific article

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

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

scientific article published on September 2015

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

scientific article

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

Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2)

scientific article published on 01 September 1993

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

article

Multimodal analysis of the progression of Best vitelliform macular dystrophy

scientific article published on 27 April 2014

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 NMNAT1 cause Leber congenital amaurosis with severe macular and optic atrophy

scientific article

Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia

scientific article published in September 1994

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

scientific article published on 28 October 2014

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

scientific article published on 13 July 2015

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

scientific article

NDP gene mutations in 14 French families with Norrie disease

scientific article published in December 2003

No association between the T280M polymorphism of the CX3CR1 gene and exudative AMD.

scientific article published on 20 May 2011

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

scientific article

Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia

scientific article published on 01 January 1998

Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia

scientific article published on 01 January 1996

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

R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population

scientific article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific journal article

Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies

scientific article

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

scientific article published on 20 April 2016

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

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

Site specific screening for point mutations in ornithine transcarbamylase deficiency ⬇️

scientific article published on July 1, 1992

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

scientific article

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

Structure and physical mapping of DR1, a TATA-binding protein-associated phosphoprotein gene, to chromosome 1p22.1 and its exclusion in Stargardt disease (STGD)

scientific article

Structure and refinement of the physical mapping of the gamma- glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesothelioma

scientific article

Submicroscopic deletions at 13q32.1 cause congenital microcoria

scientific article

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

scientific article published on 13 March 2013

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

scientific article published on March 2002

The ABCA4 gene in autosomal recessive cone-rod dystrophies

scientific article published in December 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.

scientific article

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene

scientific article published on 28 June 2011

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

scientific article published on 09 August 2006

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

scientific article

Understanding disease pleiotropy: From puzzle to solution

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

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated with Golgi and primary cilium alterations

scientific article published on 01 October 2020

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

scientific article published on 01 January 1996

rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration

scientific article

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