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Results: 1-18 |
Results: 18
SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM
Authors: DUMANCHIN C CAMUZAT A CAMPION D VERPILLAT P HANNEQUIN D DUBOIS B SAUGIERVEBER P MARTIN C PENET C CHARBONNIER F AGID Y FREBOURG T BRICE A
Citation: C. Dumanchin et al., SEGREGATION OF A MISSENSE MUTATION IN THE MICROTUBULE-ASSOCIATED PROTEIN-TAU GENE WITH FAMILIAL FRONTOTEMPORAL DEMENTIA AND PARKINSONISM, Human molecular genetics (Print), 7(11), 1998, pp. 1825-1829
GENOMIC ORGANIZATION OF THE HUMAN SPOCK GENE AND ITS CHROMOSOMAL LOCALIZATION TO 5Q31
Authors: CHARBONNIER F PERIN JP MATTEI MG CAMUZAT A BONNET F GRESSIN L ALLIEL PM
Citation: F. Charbonnier et al., GENOMIC ORGANIZATION OF THE HUMAN SPOCK GENE AND ITS CHROMOSOMAL LOCALIZATION TO 5Q31, Genomics, 48(3), 1998, pp. 377-380
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
RETINITIS PUNCTATA ALBESCENS ASSOCIATED WITH ARG135TRP MUTATION IN THE RHODOPSIN GENE
Authors: SOUIED EH SOUBRANE G COSCAS G ROZET JM GERBER S CAMUZAT A MUNNICH A KAPLAN J
Citation: Eh. Souied et al., RETINITIS PUNCTATA ALBESCENS ASSOCIATED WITH ARG135TRP MUTATION IN THE RHODOPSIN GENE, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4562-4562
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
NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY
Authors: BONNEAU D SOUIED EH ROZET JM GERBER S CAMUZAT A DHAENS E MUNNICH A KAPLAN J
Citation: D. Bonneau et al., NO EVIDENCE OF GENETIC-HETEROGENEITY IN DOMINANT OPTIC ATROPHY, Investigative ophthalmology & visual science, 37(3), 1996, pp. 4588-4588
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
STRUCTURE AND CELLULAR-DISTRIBUTION OF MOUSE-BRAIN TESTICAN - ASSOCIATION WITH THE POSTSYNAPTIC AREA OF HIPPOCAMPUS PYRAMIDAL CELLS
Authors: BONNET F PERIN JP CHARBONNIER F CAMUZAT A ROUSSEL G NUSSBAUM JL ALLIEL PM
Citation: F. Bonnet et al., STRUCTURE AND CELLULAR-DISTRIBUTION OF MOUSE-BRAIN TESTICAN - ASSOCIATION WITH THE POSTSYNAPTIC AREA OF HIPPOCAMPUS PYRAMIDAL CELLS, The Journal of biological chemistry, 271(8), 1996, pp. 4373-4380
A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P
Authors: CAMUZAT A DOLLFUS H ROZET JM GERBER S BONNEAU D BONNEMAISON M BRIARD ML DUFIER JL GHAZI I LEOWSKI C WEISSENBACH J FREZAL J MUNNICH A KAPLAN J
Citation: A. Camuzat et al., A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P, Human molecular genetics, 4(8), 1995, pp. 1447-1452
GENES FOR CHILDHOOD RETINAL DYSTROPHIES
Authors: KAPLAN J ROZET JM GERBER S CAMUZAT A SOUIED E BONNEAU D LARGETPIET D DOLLFUS H DUFIER JL BRIARD ML FREZAL J MUNNICH A
Citation: J. Kaplan et al., GENES FOR CHILDHOOD RETINAL DYSTROPHIES, MS. Medecine sciences, 11(3), 1995, pp. 325-335
A GENE FOR LATE-ONSET FUNDUS-FLAVIMACULATUS WITH MACULAR DYSTROPHY MAPS TO CHROMOSOME-1P13
Authors: GERBER S ROZET JM BONNEAU D SOUIED E CAMUZAT A DUFIER JL AMALRIC P MUNNICH A KAPLAN J
Citation: S. Gerber et al., A GENE FOR LATE-ONSET FUNDUS-FLAVIMACULATUS WITH MACULAR DYSTROPHY MAPS TO CHROMOSOME-1P13, Investigative ophthalmology & visual science, 36(4), 1995, pp. 919-919
2 NOVEL MISSENSE MUTATIONS OF PERIPHERIN RDS GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP), IN PEDIGREES FROM FRANCE/
Authors: SOUIED E GERBER S ROZET JM CAMUZAT A DUFIER JL SOUBRANE G COSCAS G MUNNICH A KAPLAN J
Citation: E. Souied et al., 2 NOVEL MISSENSE MUTATIONS OF PERIPHERIN RDS GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA (ADRP), IN PEDIGREES FROM FRANCE/, Vision research, 35, 1995, pp. 367-367
A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P
Authors: KAPLAN J CAMUZAT A DOLLFUS H ROZET JM GERBER S BONNEAU D GHAZI I DUFIER JL MUNNICH A
Citation: J. Kaplan et al., A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P, Vision research, 35, 1995, pp. 3235-3235
A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P
Authors: KAPLAN J CAMUZAT A DOLLFUS H ROZET JM GERBER S BONNEAU D GHAZI I DUFIER JL MUNNICH A
Citation: J. Kaplan et al., A GENE FOR LEBERS CONGENITAL AMAUROSIS MAPS TO CHROMOSOME 17P, American journal of human genetics, 57(4), 1995, pp. 1120-1120
A GENE FOR LATE-ONSET FUNDUS FLAVIMACULATUS WITH MACULAR DYSTROPHY MAPS TO CHROMOSOME 1P13
Authors: GERBER S ROZET JM BONNEAU D SOUIED E CAMUZAT A DUFIER JL AMALRIC P WEISSENBACH J MUNNICH A KAPLAN J
Citation: S. Gerber et al., A GENE FOR LATE-ONSET FUNDUS FLAVIMACULATUS WITH MACULAR DYSTROPHY MAPS TO CHROMOSOME 1P13, American journal of human genetics, 56(2), 1995, pp. 396-399
Risultati: 1-18 |