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Results: 1-25 | 26-50 | 51-63
Results: 1-25/63
NOVEL INTRAGENIC DELETIONS AND POINT MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: CALVAS P SEGUES B ROZET JM RABIER D BONNEFOND JP MUNNICH A
Citation: P. Calvas et al., NOVEL INTRAGENIC DELETIONS AND POINT MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 1998, pp. 81-84
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
COMPLETE EXON-INTRON STRUCTURE OF THE RETINA-SPECIFIC ATP BINDING TRANSPORTER GENE (ABCR) ALLOWS THE IDENTIFICATION OF NOVEL MUTATIONS UNDERLYING STARGARDT-DISEASE
Authors: GERBER S ROZET JM VANDEPOL TJR HOYNG CB MUNNICH A BLANKENAGEL A KAPLAN J CREMERS FPM
Citation: S. Gerber et al., COMPLETE EXON-INTRON STRUCTURE OF THE RETINA-SPECIFIC ATP BINDING TRANSPORTER GENE (ABCR) ALLOWS THE IDENTIFICATION OF NOVEL MUTATIONS UNDERLYING STARGARDT-DISEASE, Genomics, 48(1), 1998, pp. 139-142
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
EXCLUSION OF THE APOE GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: SOUIED EH BENLIAN P ROZET JM GERBER S LAGARDE JP COSCAS G SOUBRANE G DUFFIER JL MUNNICH A KAPLAN J
Citation: Eh. Souied et al., EXCLUSION OF THE APOE GENE IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Vision research (Oxford), 38(24), 1998, pp. 3829-3831
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
APO-E GENE AND AGE-RELATED DRUSEN
Authors: SOUBRANE G SOUIED EH BENLIAN P RAZAVI S ROZET JM GERBER S COSCAS G MUNNICH A KAPLAN J
Citation: G. Soubrane et al., APO-E GENE AND AGE-RELATED DRUSEN, Investigative ophthalmology & visual science, 38(4), 1997, pp. 1659-1659
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
LINKAGE ANALYSIS IN A FAMILY WITH PSEUDO-DOMINANTLY INHERITED CONE-ROD DYSTROPHY AND RETINITIS-PIGMENTOSA SUGGESTS THAT THE DEFECTS RESIDE IN THE STARGARDT-DISEASE GENE ABCR
Authors: CREMERS F VANDEPOL D ROZET JM GERBER S VANHAREN F TIJMES N BLANKENAGEL A BERGEN A KNOERS N KREMER H DAHL N PINCKERS A DEUTMAN A KAPLAN J HOYNG C
Citation: F. Cremers et al., LINKAGE ANALYSIS IN A FAMILY WITH PSEUDO-DOMINANTLY INHERITED CONE-ROD DYSTROPHY AND RETINITIS-PIGMENTOSA SUGGESTS THAT THE DEFECTS RESIDE IN THE STARGARDT-DISEASE GENE ABCR, American journal of human genetics, 61(4), 1997, pp. 1930-1930
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
PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA
Authors: GILBERTDUSSARDIER B SEGUES B ROZET JM RABIER D CALVAS P DELUMLEY L BONNEFOND JP MUNNICH A
Citation: B. Gilbertdussardier et al., PARTIAL DUPLICATION [DUP-TCAC-(178)] AND NOVEL POINT MUTATIONS (T125M, G188R, A209V, AND H302L) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Human mutation, 8(1), 1996, pp. 74-76
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
MUTATIONS OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 GENE IN ACHONDROPLASIA
Authors: ROUSSEAU F BONAVENTURE J LEGEAIMALLET L PELET A ROZET JM MAROTEAUX P LEMERRER M MUNNICH A
Citation: F. Rousseau et al., MUTATIONS OF THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3 GENE IN ACHONDROPLASIA, Hormone research, 45(1-2), 1996, pp. 108-110
RAPID RECOGNITION OF MUTATIONS PREVIOUSLY IDENTIFIED IN FAMILIES OF PATIENTS WITH AUTOSOMIC DOMINANT RETINITIS-PIGMENTOSA
Authors: SOUIED E ROZET JM GERBER S MUNNICH A KAPLAN J
Citation: E. Souied et al., RAPID RECOGNITION OF MUTATIONS PREVIOUSLY IDENTIFIED IN FAMILIES OF PATIENTS WITH AUTOSOMIC DOMINANT RETINITIS-PIGMENTOSA, Journal francais d'ophtalmologie, 19(4), 1996, pp. 265-270
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
Risultati: 1-25 | 26-50 | 51-63