About: Jean-michel Rozet

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researcher

Attributes	Values
rdf:type	Item
description	forskare (sv) ikertzailea (eu) researcher (en) 연구원 (ko) গবেষক (bn) 研究者 (ja) ഗവേഷകൻ (ml) araştırmacı (tr) дослідник (uk) वैज्ञानिक (hi) изилдөөчү (ky) 研究者 (zh) հետազոտող (hy) hulumtues (sq) onderzoeker (nl)
rdfs:label	Jean-michel Rozet (en) Jean-michel Rozet (es) Jean-michel Rozet (nl) Jean-michel Rozet (sl) Jean-michel Rozet (ast)
skos:prefLabel	Jean-michel Rozet (en) Jean-michel Rozet (es) Jean-michel Rozet (nl) Jean-michel Rozet (sl) Jean-michel Rozet (ast)
name	Jean-michel Rozet (en) Jean-michel Rozet (es) Jean-michel Rozet (nl) Jean-michel Rozet (sl) Jean-michel Rozet (ast)
instance of	wds:Q43156966-A6E6614B-71DE-4624-9FC9-623BB1439345
instance of	Homo sapiens
doctoral advisor	wds:Q43156966-3c7fc8da-40ac-44a0-8149-5af59f6052ab
doctoral advisor	Josseline Kaplan
skos:altLabel	Jean-Michel ROZET (en)
occupation	wds:Q43156966-FF6D6E1D-7D7D-40E3-A52E-F8B751E0CE6B
sex or gender	wds:Q43156966-F9D88328-1E3F-44CB-AC1A-775E00F0C1C7
VIAF ID	wds:Q43156966-4c0394ef-20d4-44d9-aeeb-7b970c86d175
IdRef ID	wds:Q43156966-6D759AD3-4459-49D1-AFE9-97488A88C391
VIAF ID	http://viaf.org/viaf/213113983
IdRef ID	http://www.idref.fr/082096341/id
occupation	researcher
sex or gender	male
VIAF ID	213113983
IdRef ID	082096341
ORCID iD	wds:Q43156966-59F3F88B-722E-4BC0-A219-0DB9371BA6E8
ORCID iD	https://orcid.org/0000-0001-7951-7886
ORCID iD	0000-0001-7951-7886
ResearcherID	wds:Q43156966-6FF5A452-6273-4645-9735-853DA2548BBD
Publons author ID	wds:Q43156966-44807c3e-1e2f-4a67-b459-1076dbeb6c3a
ResearcherID	E-5737-2016
Publons author ID	2287650
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q43156966
is author of	Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1. The ABCA4 gene in autosomal recessive cone-rod dystrophies Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. Genetic heterogeneity of Usher syndrome type 1 in French families. A gene for Usher syndrome type I (USH1A) maps to chromosome 14q Site specific screening for point mutations in ornithine transcarbamylase deficiency Multimodal analysis of the progression of Best vitelliform macular dystrophy Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). ALDH1A3 mutations cause recessive anophthalmia and microphthalmia rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosa 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 A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1 Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent? Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Understanding disease pleiotropy: From puzzle to solution AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy Dominant X linked retinitis pigmentosa is frequently accounted for by truncating mutations in exon ORF15 of the RPGR gene. ABCR gene analysis in familial exudative age-related macular degeneration NDP gene mutations in 14 French families with Norrie disease. The photoreceptor cell-specific nuclear receptor gene (PNR) accounts for retinitis pigmentosa in the Crypto-Jews from Portugal (Marranos), survivors from the Spanish Inquisition. Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosa. Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype Prenatal human ocular degeneration occurs in Leber's congenital amaurosis (LCA2). A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3 Machado-Joseph Disease Is Genetically Different from Holguin Dominant Ataxia (SCA2) The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype Submicroscopic deletions at 13q32.1 cause congenital microcoria Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia. Age-related macular degeneration in grandparents of patients with Stargardt disease: genetic study A novel mutation in the GUCY2D gene responsible for an early onset severe RP different from the usual GUCY2D-LCA phenotype Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example A retGC-1 mutation in autosomal dominant cone-rod dystrophy. Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

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