His primary scientific interests are in Genetics, Mutation, Genetic heterogeneity, Retinitis pigmentosa and Missense mutation. His studies in Retinal Dystrophies, Gene, Genotype, Gene mutation and Genetic linkage are all subfields of Genetics research. His work carried out in the field of Mutation brings together such families of science as Mutant and Leber congenital amaurosis.
His Genetic heterogeneity research incorporates elements of Leber's congenital amaurosis and CRB1. His Retinitis pigmentosa research incorporates themes from Genetic marker, Base sequence and Founder effect. His research integrates issues of Disease gene identification, Endocrinology and Internal medicine in his study of Missense mutation.
Jean-Michel Rozet mostly deals with Genetics, Gene, Locus, Mutation and Retinitis pigmentosa. Genetic heterogeneity, Gene mapping, Genetic linkage, Missense mutation and Exon are among the areas of Genetics where the researcher is concentrating his efforts. He interconnects Leber's congenital amaurosis and CRB1 in the investigation of issues within Genetic heterogeneity.
His Missense mutation research includes themes of Stargardt disease and Gene mutation. The study incorporates disciplines such as Atrophy, X chromosome, Allele, Haplotype and Usher syndrome in addition to Locus. The various areas that Jean-Michel Rozet examines in his Mutation study include Retinal Dystrophies, Mutant, Molecular biology, Cilium and Ciliopathy.
His main research concerns Genetics, Mutation, Gene, Ciliopathies and Bioinformatics. His Genetics study frequently intersects with other fields, such as Disease. His Mutation study incorporates themes from Retinal, Mutant, Retinal Dystrophies and Cilium, Cell biology.
His study looks at the relationship between Retinal Dystrophies and fields such as Genotype, as well as how they intersect with chemical problems. His work on Penetrance, Retinoic acid, Model organism and Genetic architecture as part of general Gene study is frequently linked to Microcoria, therefore connecting diverse disciplines of science. His Bioinformatics study combines topics in areas such as DNA sequencing and Retinal dystrophy.
Jean-Michel Rozet focuses on Mutation, Genetics, Mutant, Compound heterozygosity and Ciliopathies. Mutation is a primary field of his research addressed under Gene. His is involved in several facets of Genetics study, as is seen by his studies on Exome sequencing and Mitochondrion.
His work is dedicated to discovering how Compound heterozygosity, Molecular biology are connected with Respiratory enzyme, Genetic analysis, Gene mapping, NDUFS2 and Respiratory chain and other disciplines. In Ciliopathies, Jean-Michel Rozet works on issues like Ciliopathy, which are connected to Structural variation, Copy-number variation, Haplotype, Genetic heterogeneity and Whole genome sequencing. His Retinal Dystrophies research includes elements of Missense mutation, Exome, Bardet–Biedl syndrome and Genotype.
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Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
Francis Rousseau;Jacky Bonaventure;Laurence Legeai-Mallet;Anna Pelet.
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis.
Perrault I;Rozet Jm;Calvas P;Gerber S.
Nature Genetics (1996)
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis.
Sylvain Hanein;Isabelle Perrault;Sylvie Gerber;Gaëlle Tanguy.
Human Mutation (2004)
X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus
P. Saugier-Veber;A. Munnich;D. Bonneau;J.-M. Rozet.
Nature Genetics (1994)
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault;Nathalie Delphin;Sylvain Hanein;Sylvie Gerber.
Human Mutation (2007)
Leber Congenital Amaurosis
Isabelle Perrault;Jean-Michel Rozet;Sylvie Gerber;Imad Ghazi.
Molecular Genetics and Metabolism (1999)
Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.
Isabelle Perrault;Sylvain Hanein;Sylvie Gerber;Fabienne Barbet.
American Journal of Human Genetics (2004)
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
Jean-Michel Rozet;Sylvie Gerber;Eric Souied;Isabelle Perrault.
European Journal of Human Genetics (1998)
A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1.
Josseline Kaplan;Sylvie Gerber;Dominique Larget-Piet;Jean-Michel Rozet.
Nature Genetics (1993)
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis
Sylvie Gerber;Isabelle Perrault;Sylvain Hanein;Fabienne Barbet.
European Journal of Human Genetics (2001)
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