AAAAAA

   
Results: 1-25 | 26-27
Results: 1-25/27
FAMILIAR ASSOCIATION OF DISTAL ARTHROGRYPOSIS, MENTAL-RETARDATION, WHISTLING FACE AND PIERRE-ROBIN SEQUENCE
Authors: STOLL C DOLLFUS H BENOIT F PETER MO
Citation: C. Stoll et al., FAMILIAR ASSOCIATION OF DISTAL ARTHROGRYPOSIS, MENTAL-RETARDATION, WHISTLING FACE AND PIERRE-ROBIN SEQUENCE, European journal of human genetics, 6, 1998, pp. 1125-1125
FAMILIAL COARCTATION OF THE AORTA IN 3 GENERATIONS
Authors: DOLLFUS H ALEMBIK Y DOTT B STOLL C
Citation: H. Dollfus et al., FAMILIAL COARCTATION OF THE AORTA IN 3 GENERATIONS, European journal of human genetics, 6, 1998, pp. 1128-1128
EYE INVOLVEMENT IN CHILDRENS RHEUMATIC DISEASES
Authors: DOLLFUS H
Citation: H. Dollfus, EYE INVOLVEMENT IN CHILDRENS RHEUMATIC DISEASES, Bailliere's clinical rheumatology, 12(2), 1998, pp. 309-328
LONG-TERM RESULTS OF TRABECULECTOMY FOR CONGENITAL GLAUCOMA
Authors: DUREAU P DOLLFUS H CASSEGRAIN C DUFIER JL
Citation: P. Dureau et al., LONG-TERM RESULTS OF TRABECULECTOMY FOR CONGENITAL GLAUCOMA, Journal of pediatric ophthalmology and strabismus, 35(4), 1998, pp. 198-202
CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW
Authors: TELLIER AL CORMIERDAIRE V ABADIE V AMIEL J SIGAUDY S BONNET D DELONLAYDEBENEY P MORRISSEAUDURAND MP HUBERT P MICHEL JL JAN D DOLLFUS H BAUMANN C LABRUNE P LACOMBE D PHILIP N LEMERRER M BRIARD ML MUNNICH A LYONNET S
Citation: Al. Tellier et al., CHARGE SYNDROME - REPORT OF 47 CASES AND REVIEW, American journal of medical genetics, 76(5), 1998, pp. 402-409
GILLESPIE SYNDROME PHENOTYPE WITH A T(X-11)(P22.32-P12) DE-NOVO TRANSLOCATION
Authors: DOLLFUS H JOANNYFLINOIS O DOCOFENZY M VEYRE L JOANNYFLINOIS L KHOURY M JONVEAUX P ABITBOL M DUFIER JL
Citation: H. Dollfus et al., GILLESPIE SYNDROME PHENOTYPE WITH A T(X-11)(P22.32-P12) DE-NOVO TRANSLOCATION, American journal of ophthalmology, 125(3), 1998, pp. 397-399
UNUSUAL SCOTOMAS AFTER TRANSSPHENOIDAL SURGERY OF A PITUITARY MACROADENOMA
Authors: DOLLFUS H GOMBERG S TOURAINE P ORSSAUD C HAMDANI M DEROME P KUTTENN F DUFIER JL
Citation: H. Dollfus et al., UNUSUAL SCOTOMAS AFTER TRANSSPHENOIDAL SURGERY OF A PITUITARY MACROADENOMA, Journal of neuro-ophthalmology, 17(3), 1997, pp. 204-206
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
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
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
INSIDIOUS CRANIOSYNOSTOSIS AND CHRONIC PAPILLEDEMA IN CHILDHOOD
Authors: DOLLFUS H VINIKOFF L RENIER D DUFIER JL
Citation: H. Dollfus et al., INSIDIOUS CRANIOSYNOSTOSIS AND CHRONIC PAPILLEDEMA IN CHILDHOOD, American journal of ophthalmology, 122(6), 1996, pp. 910-911
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 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
AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH A 4-BASE PAIR INSERTION CODON-140 IN THE PERIPHERIN RDS GENE/
Authors: KIM RY DOLLFUS H KEEN TJ FITZKE FW ARDEN GB BHATTACHARYA SS BIRD AC
Citation: Ry. Kim et al., AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH A 4-BASE PAIR INSERTION CODON-140 IN THE PERIPHERIN RDS GENE/, Archives of ophthalmology, 113(4), 1995, pp. 451-455
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 STARGARDTS-DISEASE (FUNDUS-FLAVIMACULATUS) MAPS TO THE SHORT ARM OF CHROMOSOME-1
Authors: KAPLAN J GERBER S LARGETPIET D ROZET JM DOLLFUS H DUFIER JL ODENT S POSTELVINAY A JANIN N BRIARD ML FREZAL J MUNNICH A
Citation: J. Kaplan et al., A GENE FOR STARGARDTS-DISEASE (FUNDUS-FLAVIMACULATUS) MAPS TO THE SHORT ARM OF CHROMOSOME-1, Nature genetics, 6(2), 1994, pp. 214-214
HUMAN RETINAL GUANYLATE-CYCLASE (GUC2D) MAPS TO CHROMOSOME 17P13.1
Authors: OLIVEIRA L MINIOU P VIEGASPEQUIGNOT E ROZET JM DOLLFUS H PITTLER SJ
Citation: L. Oliveira et al., HUMAN RETINAL GUANYLATE-CYCLASE (GUC2D) MAPS TO CHROMOSOME 17P13.1, Genomics, 22(2), 1994, pp. 478-481
REFINING OF THE GENETIC-MAPPING OF US1A (14Q32)
Authors: KAPLAN J LARGETPIET D GERBER S BONNEAU D DOLLFUS H ROZET JM MUNNICH A
Citation: J. Kaplan et al., REFINING OF THE GENETIC-MAPPING OF US1A (14Q32), Cytogenetics and cell genetics, 66(1), 1994, pp. 13-13
HUMAN RETINAL GUANYLATE-CYCLASE MAPS TO 17P13.1
Authors: OLIVEIRA L MINIOU P VIEGASPEQUIGNOT E ROZET JM DOLLFUS H PITTLER SJ
Citation: L. Oliveira et al., HUMAN RETINAL GUANYLATE-CYCLASE MAPS TO 17P13.1, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1264-1264
AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH ANRDS PERIPHERIN GENE CODON 140-4-BP INSERTION/
Authors: KIM RY DOLLFUS H KEENE J FITZKE FW ARDEN GB BHATTACHARYA SS BIRD AC
Citation: Ry. Kim et al., AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH ANRDS PERIPHERIN GENE CODON 140-4-BP INSERTION/, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1479-1479
A GENE FOR STARGARDTS-DISEASE MAPS ON THE SHORT ARM OF CHROMOSOME-1
Authors: KAPLAN J GERBER S ROZET JM PIET DL DOLLFUS H MUNNICH A
Citation: J. Kaplan et al., A GENE FOR STARGARDTS-DISEASE MAPS ON THE SHORT ARM OF CHROMOSOME-1, Investigative ophthalmology & visual science, 35(4), 1994, pp. 1715-1715
A GENE FOR STARGARDTS-DISEASE (FUNDUS-FLAVIMACULATUS) MAPS TO THE SHORT ARM OF CHROMOSOME-1
Authors: KAPLAN J GERBER S LARGETPIET D ROZET JM DOLLFUS H DUFIER JL ODENT S POSTELVINAY A JANIN N BRIARD ML FREZAL J MUNNICH A
Citation: J. Kaplan et al., A GENE FOR STARGARDTS-DISEASE (FUNDUS-FLAVIMACULATUS) MAPS TO THE SHORT ARM OF CHROMOSOME-1, Nature genetics, 5(3), 1993, pp. 308-311
DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN RECOVERIN RCVI GENE LOCUS ON CHROMOSOME-17P
Authors: DOLLFUS H ROZET JM MUSARELLA MA KAPLAN J MUNNICH A
Citation: H. Dollfus et al., DINUCLEOTIDE REPEAT POLYMORPHISM AT THE HUMAN RECOVERIN RCVI GENE LOCUS ON CHROMOSOME-17P, Human molecular genetics, 2(7), 1993, pp. 1081-1081
Risultati: 1-25 | 26-27