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Results: 1-25 | 26-29
Results: 1-25/29
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
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
RETINAL BRANCH VEIN OCCLUSION ASSOCIATED WITH MACULAR DYSTROPHY, MATERNALLY INHERITED DIABETES, AND DEAFNESS
Authors: SOUIED E MASHHOUR B MOREL X COHEN Y BONNEFOND JP MUNNICH A CHAUVAUD D RENARD G KAPLAN J
Citation: E. Souied et al., RETINAL BRANCH VEIN OCCLUSION ASSOCIATED WITH MACULAR DYSTROPHY, MATERNALLY INHERITED DIABETES, AND DEAFNESS, Ophthalmic genetics, 18(3), 1997, pp. 157-160
RETINITIS-PIGMENTOSA
Authors: SOUIED E KAPLAN J SOUBRANE G COSCAS G
Citation: E. Souied et al., RETINITIS-PIGMENTOSA, Journal francais d'ophtalmologie, 20(6), 1997, pp. 461-486
DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY
Authors: SOUIED E PISELLA PJ OSSAREH B BREZIN A JUNES P WILDDECRETTE C MUNNICH A BONNEFONT JP MONDON H
Citation: E. Souied et al., DIAGNOSIS OF LEBER HEREDITARY OPTIC NEURO PATHY USING MOLECULAR-BIOLOGY, Journal francais d'ophtalmologie, 20(1), 1997, pp. 65-70
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
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
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
APO-E GENE AND AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA
Authors: SOUIED E BENLIAN P ROZET JM GERBER S COSCAS G SOUBRANE G MUNNICH A KAPLAN J
Citation: E. Souied et al., APO-E GENE AND AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA, Vision research, 36, 1996, pp. 424-424
APO-E GENE AND AGE-RELATED DRUSEN
Authors: SOUIED E SOUBRANE G BENLIAN P ROZET JM GERBER S MUNNICH A KAPLAN J COSCAS G
Citation: E. Souied et al., APO-E GENE AND AGE-RELATED DRUSEN, Vision research, 36, 1996, pp. 428-428
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
RETINITIS PUNCTATA ALBESCENS ASSOCIATED WITH THE ARG135TRP MUTATION IN THE RHODOPSIN GENE
Authors: SOUIED E SOUBRANE G BENLIAN P COSCAS GJ GERBER S MUNNICH A KAPLAN J
Citation: E. Souied et al., RETINITIS PUNCTATA ALBESCENS ASSOCIATED WITH THE ARG135TRP MUTATION IN THE RHODOPSIN GENE, American journal of ophthalmology, 121(1), 1996, pp. 19-25
UNUSUAL ASSOCIATION OF JUVENILE MACULAR DYSTROPHY WITH CONGENITAL HYPOTRICHOSIS - OCCURRENCE IN 2 SIBLINGS SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE
Authors: SOUIED E AMALRIC P CHAUVET ML CHEVALLIER C LEHOANG P MUNNICH A KAPLAN J
Citation: E. Souied et al., UNUSUAL ASSOCIATION OF JUVENILE MACULAR DYSTROPHY WITH CONGENITAL HYPOTRICHOSIS - OCCURRENCE IN 2 SIBLINGS SUGGESTING AUTOSOMAL RECESSIVE INHERITANCE, Ophthalmic genetics, 16(1), 1995, pp. 11-15
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
EXCLUSION OF THE CONE-SPECIFIC ALPHA-SUBUNIT OF THE TRANSDUCIN GENE IN STARGARDTS-DISEASE
Authors: GERBER S ROZET JM BONNEAU D SOUIED E WEISSENBACH J FREZAL J MUNNICH A KAPLAN J
Citation: S. Gerber et al., EXCLUSION OF THE CONE-SPECIFIC ALPHA-SUBUNIT OF THE TRANSDUCIN GENE IN STARGARDTS-DISEASE, Human genetics, 95(4), 1995, pp. 382-384
EXCLUSION OF THE CONE-SPECIFIC ALPHA-SUBUNIT OF THE TRANSDUCIN GENE IN STARGARDTS-DISEASE
Authors: ROZET JM GERBER S BONNEAU D SOUIED E FREZAL J MUNNICH A KAPLAN J
Citation: Jm. Rozet et al., EXCLUSION OF THE CONE-SPECIFIC ALPHA-SUBUNIT OF THE TRANSDUCIN GENE IN STARGARDTS-DISEASE, Investigative ophthalmology & visual science, 36(4), 1995, pp. 919-919
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
PREVALENCE OF FAMILIAL CASES WITH AGE-RELATED MACULOPATHY
Authors: SOUBRANE G SOUIED E KAPLAN J OUBRAHAM H COSCAS G
Citation: G. Soubrane et al., PREVALENCE OF FAMILIAL CASES WITH AGE-RELATED MACULOPATHY, Investigative ophthalmology & visual science, 36(4), 1995, pp. 1001-1001
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
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