Mise en évidence rapide de mutations déjà identifiées chez les apparentés à risque de patients atteints de rétinopathie pigmentaire dominante autosomique = Rapid recognition of mutations previously identified in families of patients with autosomic dominant retinitis pigmentosaSOUIED, E; ROZET, J.-M; GERBER, S et al.Journal français d'ophtalmologie. 1996, Vol 19, Num 4, pp 265-270, issn 0181-5512Article

Genetic heterogeneity of usher syndrome type 1 in french familiesLARGET-PIET, D; GERBER, S; MUNNICH, A et al.Genomics (San Diego, Calif.). 1994, Vol 21, Num 1, pp 138-143, issn 0888-7543Article

Age-related macular degeneration in grandparents of patients with Stargardt disease : Genetic studySOUIED, E. H; DUCROQ, D; KAPLAN, J et al.American journal of ophthalmology. 1999, Vol 128, Num 2, pp 173-178, issn 0002-9394Article

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and stargardt disease: evidence of clinical heterogeneity at this locusROZET, J.-M; GERBER, S; GHAZI, I et al.Journal of medical genetics. 1999, Vol 36, Num 6, pp 447-451, issn 0022-2593Article

Exclusion of the cone-specific α-subunit of the transduction gene in Stargardt's diseaseGERBER, S; ROZET, J.-M; BONNEAU, D et al.Human genetics. 1995, Vol 95, Num 4, pp 382-384, issn 0340-6717Article

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1OLIVEIRA, L; MINIOU, P; VIEGAS-PEQUIGNOT, E et al.Genomics (San Diego, Calif.). 1994, Vol 22, Num 2, pp 478-481, issn 0888-7543Article

Dinucleotide repeat polymorphism at the human recoverin RCVI gene losus on chromosome 17pDOLLFUS, H; ROZET, J.-M; MUSARELLA, M. A et al.Human molecular genetics (Print). 1993, Vol 2, Num 7, issn 0964-6906, p. 1081Article

Machado-Joseph disease is genetically different from holguin dominant ataxia (SCA2)SILVEIRA, I; MANAIA, A; LOUREIRO, J. E. L et al.Genomics (San Diego, Calif.). 1993, Vol 17, Num 3, pp 556-559, issn 0888-7543Article

Structure and refinement of the physical mapping of the γ-glutamylcysteine ligase regulatory subunit (GLCLR) gene to chromosome 1p22.1 within the critically deleted region of human malignant mesotheliomaROZET, J.-M; GERBER, S; PERRAULT, I et al.Cytogenetics and cell genetics. 1998, Vol 82, Num 1-2, pp 91-94, issn 0301-0171Conference Paper

A gene for Leber's congenital amaurosis maps to chromosome 17pCAMUZAT, A; DOLFUS, H; WEISSENBACH, J et al.Human molecular genetics (Print). 1995, Vol 4, Num 8, pp 1447-1452, issn 0964-6906Article

A gene for lage-onset fundus flavimaculatus with macular dystrophy maps to chromosome Ip13GERBER, S; ROZET, J.-M; BONNEAU, D et al.American journal of human genetics. 1995, Vol 56, Num 2, pp 396-399, issn 0002-9297Article

Apparent segregation of null alleles ascribed to deletions of the ornithine transcarbamylase gene in congenital hyperammonaemiaSEGUES, B; ROZET, J.-M; LYONNET, S et al.Prenatal diagnosis. 1995, Vol 15, Num 8, pp 757-761, issn 0197-3851Article

Five novel missense mutations of the rhodopsin gene in autosomal dominant retinitis pigmentosaSOUIED, E; GERBER, S; KAPLAN, J et al.Human molecular genetics (Print). 1994, Vol 3, Num 8, pp 1433-1434, issn 0964-6906Article

Physical and genetic localization of the γ subunit of the cyclic GMP phosphodiesterase on the long arm of chromosome 17 (17q25)DOLLFUS, H; MATTEI, M.-G; ROZET, J.-M et al.Genomics (San Diego, Calif.). 1993, Vol 17, Num 2, pp 526-528, issn 0888-7543Article

Amaurose congénitale de Leber : le point sur l'hétérogénéité génétique, actualisation de la définition clinique : Rétinopathies pigmentaires = Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update : Retinitis pigmentosaHANEIN, S; PERRAULT, I; GERBER, S et al.Journal français d'ophtalmologie. 2005, Vol 28, Num 1, pp 98-105, issn 0181-5512, 8 p.Article

Les dystrophies maculaires héréditaires : Rétinopathies pigmentaires = Hereditary macular dystrophies : Retinitis pigmentosaROZET, J.-M; GERBER, S; DUCROQ, D et al.Journal français d'ophtalmologie. 2005, Vol 28, Num 1, pp 113-124, issn 0181-5512, 12 p.Article

A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3CABOT, A; ROZET, J.-M; GERBER, S et al.American journal of human genetics. 1999, Vol 64, Num 4, pp 1141-1146, issn 0002-9297Article

Exclusion of five subunits of cGMP phosphodiesterase in Leber's congenital amaurosisPERRAULT, I; CHATELIN, S; KAPLAN, J et al.Human genetics. 1998, Vol 102, Num 3, pp 322-326, issn 0340-6717Article

Exclusion of the apoE gene in autosomal dominant retinitis pigmentosaSOUIED, E. H; BENLIAN, P; ROZET, J.-M et al.Vision research (Oxford). 1998, Vol 38, Num 24, pp 3829-3831, issn 0042-6989Article

Severe manifestions in carrier females in X linked retinitis pigmentosaSOUIED, E; SEGUES, B; DUFIER, J.-L et al.Journal of medical genetics. 1997, Vol 34, Num 10, pp 793-797, issn 0022-2593Article

Evidence for a fourth locus in Usher syndrome type IGERBER, S; LARGET-PIET, D; ROZET, J.-M et al.Journal of medical genetics. 1996, Vol 33, Num 1, pp 77-79, issn 0022-2593Article

DsaI polymorphism at the human cone transducin α-subunit (GNAT2) detected by PCRROZET, J.-M; GERBER, S; BONNEAU, D et al.Human molecular genetics (Print). 1994, Vol 3, Num 6, issn 0964-6906, p. 1030Article

A gene for usher syndrome type I (USH1A) maps to chromosome 14qKAPLAN, J; GERBER, S; MUNNICH, A et al.Genomics (San Diego, Calif.). 1992, Vol 14, Num 4, pp 979-987, issn 0888-7543Article

Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt diseaseGERBER, S; ROZET, J. M; VAN DE POL, T. J. R et al.Genomics (San Diego, Calif.). 1998, Vol 48, Num 1, pp 139-142, issn 0888-7543Article