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Results: 1-19 |
Results: 19
SPECTRUM OF ABCR GENE-MUTATIONS IN AUTOSOMAL RECESSIVE MACULAR DYSTROPHIES
Authors: ROZET JM GERBER S SOUIED E PERRAULT I CHATELIN S GHAZI I LEOWSKI C DUFIER JL MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., SPECTRUM OF ABCR GENE-MUTATIONS IN AUTOSOMAL RECESSIVE MACULAR DYSTROPHIES, European journal of human genetics, 6(3), 1998, pp. 291-295
MUTATIONS IN THE RETINAL GUANYLATE-CYCLASE (RETGC-1) GENE IN DOMINANTCONE-ROD DYSTROPHY
Authors: KELSELL RE GREGORYEVANS K PAYNE AN PERRAULT I KAPLAN J YANG RB GARBERS DL BIRD AC MOORE AT HUNT DM
Citation: Re. Kelsell et al., MUTATIONS IN THE RETINAL GUANYLATE-CYCLASE (RETGC-1) GENE IN DOMINANTCONE-ROD DYSTROPHY, Human molecular genetics (Print), 7(7), 1998, pp. 1179-1184
EXCLUSION OF 5 SUBUNITS OF CGMP PHOSPHODIESTERASE IN LEBERS-CONGENITAL-AMAUROSIS
Authors: PERRAULT I CHATELIN S NANCY V ROZET JM GERBER S GHAZI I SOUIED E DUFIER JL MUNNICH A DEGUNZBURG J KAPLAN J
Citation: I. Perrault et al., EXCLUSION OF 5 SUBUNITS OF CGMP PHOSPHODIESTERASE IN LEBERS-CONGENITAL-AMAUROSIS, Human genetics, 102(3), 1998, pp. 322-326
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
Authors: ROZET JM GERBER S PERRAULT I CALVAS P SOUIED E CHATELIN S VIEGASPEQUIGNOT E MOLINAGOMEZ D MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., 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, Cytogenetics and cell genetics, 82(1-2), 1998, pp. 91-94
A RETGC-1 MUTATION IN AUTOSOMAL-DOMINANT CONE-ROD DYSTROPHY
Authors: PERRAULT I ROZET JM GERBER S KELSELL RE SOUIED E CABOT A HUNT DM MUNNICH A KAPLAN J
Citation: I. Perrault et al., A RETGC-1 MUTATION IN AUTOSOMAL-DOMINANT CONE-ROD DYSTROPHY, American journal of human genetics, 63(2), 1998, pp. 651-654
LEBERS CONGENITAL AMAUROSIS DUE TO MUTATI ONS IN THE GENE CODING FOR A GUANYLYL CYCLASE
Authors: PERRAULT I ROZET JM MUNNICH A KAPLAN J
Citation: I. Perrault et al., LEBERS CONGENITAL AMAUROSIS DUE TO MUTATI ONS IN THE GENE CODING FOR A GUANYLYL CYCLASE, MS. Medecine sciences, 13(4), 1997, pp. 581-583
SEVERE MANIFESTATIONS IN CARRIER FEMALES AT THE RP3 LOCUS IN X-LINKEDRETINITIS-PIGMENTOSA
Authors: SOUIED EH ROZET JM SEGUES B GHAZI I GERBER S PERRAULT I CHATELIN S SOUBRANE G COSCAS G DUFFIER JL MUNNICH A KAPLAN J
Citation: Eh. Souied et al., SEVERE MANIFESTATIONS IN CARRIER FEMALES AT THE RP3 LOCUS IN X-LINKEDRETINITIS-PIGMENTOSA, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3696-3696
CANDIDATE GENE APPROACH IN LEBERS CONGENITAL AMAUROSIS
Authors: ROZET JM PERRAULT I GERBER S CHATELIN S SOUIED E MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., CANDIDATE GENE APPROACH IN LEBERS CONGENITAL AMAUROSIS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 3698-3698
TOWARDS THE GENE RESPONSIBLE FOR STARGARDTS-DISEASE AND FUNDUS FLAVIMACULATUS
Authors: GERBER S ROZET JM CALVAS P PERRAULT I SOUIED E CHATELIN S MUNNICH A KAPLAN J
Citation: S. Gerber et al., TOWARDS THE GENE RESPONSIBLE FOR STARGARDTS-DISEASE AND FUNDUS FLAVIMACULATUS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 5343-5343
EXPRESSION OF THE RETGC GENE RESPONSIBLE FOR LCA1 DURING EMBRYOGENESIS
Authors: PERRAULT I ROZET JM GERBER S CHATELIN S SOUIED E MUNNICH A KAPLAN J
Citation: I. Perrault et al., EXPRESSION OF THE RETGC GENE RESPONSIBLE FOR LCA1 DURING EMBRYOGENESIS, Investigative ophthalmology & visual science, 38(4), 1997, pp. 113-113
SEVERE MANIFESTATIONS IN CARRIER FEMALES IN X-LINKED RETINITIS-PIGMENTOSA
Authors: SOUIED E SEGUES B GHAZI I ROZET JM CHATELIN S GERBER S PERRAULT I MICHELAWAD A BRIARD ML PLESSIS G DUFIER JL MUNNICH A KAPLAN J
Citation: E. Souied et al., SEVERE MANIFESTATIONS IN CARRIER FEMALES IN X-LINKED RETINITIS-PIGMENTOSA, Journal of Medical Genetics, 34(10), 1997, pp. 793-797
A SINGLE-GENE ACCOUNTS FOR AT LEAST 3 DIFFERENT CONDITIONS - THE STARGARDTS PARADOX
Authors: ROZET JM GERBER S PERRAULT I CHATELIN S GHAZI I DUFIER JL FREZAL J MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., A SINGLE-GENE ACCOUNTS FOR AT LEAST 3 DIFFERENT CONDITIONS - THE STARGARDTS PARADOX, American journal of human genetics, 61(4), 1997, pp. 105-105
SEVERE MANIFESTATIONS IN CARRIER FEMALES AT THE RP3 LOCUS IN X-LINKEDRETINITIS-PIGMENTOSA
Authors: KAPLAN J SOUIED E ROZET JM SEGUES B GHAZI I GERBER S PERRAULT I CHATELIN S DUFIER JL MUNNICH A
Citation: J. Kaplan et al., SEVERE MANIFESTATIONS IN CARRIER FEMALES AT THE RP3 LOCUS IN X-LINKEDRETINITIS-PIGMENTOSA, American journal of human genetics, 61(4), 1997, pp. 1967-1967
RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS
Authors: PERRAULT I ROZET JM CALVAS P GERBER S CAMUZAT A DOLLFUS H CHATELIN S SOUIED E GHAZI I LEOWSKI C BONNEMAISON M LEPASLIER D FREZAL J DUFIER JL PITTLER S MUNNICH A KAPLAN J
Citation: I. Perrault et al., RETINAL-SPECIFIC GUANYLATE-CYCLASE GENE-MUTATIONS IN LEBERS CONGENITAL AMAUROSIS, Nature genetics, 14(4), 1996, pp. 461-464
STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD)
Authors: ROZET JM GERBER S PERRAULT I CAMUZAT A CALVAS P VIEGASPEQUIGNOT E MOLINAGOMES D LEPASLIER D CHUMAKOV I MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., STRUCTURE AND PHYSICAL MAPPING OF DR1, A TATA-BINDING PROTEIN-ASSOCIATED PHOSPHOPROTEIN GENE, TO CHROMOSOME 1P22.1 AND ITS EXCLUSION IN STARGARDT DISEASE (STGD), Genomics, 36(3), 1996, pp. 554-556
EVIDENCE OF GENETIC-HETEROGENEITY OF LEBERS CONGENITAL AMAUROSIS (LCA) AND MAPPING OF LCA1 TO CHROMOSOME 17P13
Authors: CAMUZAT A ROZET JM DOLLFUS H GERBER S PERRAULT I WEISSENBACH J MUNNICH A KAPLAN J
Citation: A. Camuzat et al., EVIDENCE OF GENETIC-HETEROGENEITY OF LEBERS CONGENITAL AMAUROSIS (LCA) AND MAPPING OF LCA1 TO CHROMOSOME 17P13, Human genetics, 97(6), 1996, pp. 798-801
STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN DR1 GENE AND EXCLUSION AS STARGARDTS-DISEASE CAUSAL GENE
Authors: ROZET JM GERBER S PERRAULT I CAMUZAT A VIEGASPEQUIGNOT E MOLINAGOMES D LEPASLIER D CHUMAKOV I MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., STRUCTURE AND CHROMOSOMAL LOCALIZATION OF THE HUMAN DR1 GENE AND EXCLUSION AS STARGARDTS-DISEASE CAUSAL GENE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4550-4550
EVIDENCE FOR GENETIC-HETEROGENEITY IN LEBERS CONGENITAL AMAUROSIS ANDFINE MAPPING OF LCA1 TO CHROMOSOME 17P13
Authors: CAMUZAT A ROZET JM DOLLFUS H GERBER S PERRAULT I BONNEAU D GHAZI I DUFIER JL MUNNICH A KAPLAN J
Citation: A. Camuzat et al., EVIDENCE FOR GENETIC-HETEROGENEITY IN LEBERS CONGENITAL AMAUROSIS ANDFINE MAPPING OF LCA1 TO CHROMOSOME 17P13, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4585-4585
TOWARDS THE IDENTIFICATION OF LEBERS CONGENITAL AMAUROSIS (LCA1) GENE
Authors: PERRAULT I ROZET JM CALVAS P CAMUZAT A GERBER S DOLLFUS H CHATELIN S SOUIED E GHAZI I DUFIER JL PITTLER S MUNNICH A KAPLAN J
Citation: I. Perrault et al., TOWARDS THE IDENTIFICATION OF LEBERS CONGENITAL AMAUROSIS (LCA1) GENE, Vision research, 36, 1996, pp. 3136-3136
Risultati: 1-19 |