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Results: 1-25 | 26-33
Results: 1-25/33
EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY, VILLEFRANCHE, 1997
Authors: BEIGHTON P DEPAEPE A STEINMANN B TSIPOURAS P WENSTRUP RJ
Citation: P. Beighton et al., EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY, VILLEFRANCHE, 1997, American journal of medical genetics, 77(1), 1998, pp. 31-37
PIEBALDISM WITH DEAFNESS - MOLECULAR EVIDENCE FOR AN EXPANDED SYNDROME
Authors: SPRITZ RA BEIGHTON P
Citation: Ra. Spritz et P. Beighton, PIEBALDISM WITH DEAFNESS - MOLECULAR EVIDENCE FOR AN EXPANDED SYNDROME, American journal of medical genetics, 75(1), 1998, pp. 101-103
GENETIC MUTATIONS IN LATE-ONSET DOMINANT AND SPORADIC ATAXIA IN SOUTH-AFRICA
Authors: BRYER A BARDIEN S BEIGHTON P RAMESAR RS
Citation: A. Bryer et al., GENETIC MUTATIONS IN LATE-ONSET DOMINANT AND SPORADIC ATAXIA IN SOUTH-AFRICA, Annals of neurology, 42(3), 1997, pp. 141-141
EXPANDED CAG REPEATS IN SPINOCEREBELLAR ATAXIA (SCA1) SEGREGATE WITH DISTINCT HAPLOTYPES IN SOUTH-AFRICAN FAMILIES
Authors: RAMESAR RS BARDIEN S BEIGHTON P BRYER A
Citation: Rs. Ramesar et al., EXPANDED CAG REPEATS IN SPINOCEREBELLAR ATAXIA (SCA1) SEGREGATE WITH DISTINCT HAPLOTYPES IN SOUTH-AFRICAN FAMILIES, Human genetics, 100(1), 1997, pp. 131-137
HETEROZYGOUS MANIFESTATIONS IN THE HERITABLE DISORDERS OF THE SKELETON
Authors: BEIGHTON P
Citation: P. Beighton, HETEROZYGOUS MANIFESTATIONS IN THE HERITABLE DISORDERS OF THE SKELETON, Pediatric radiology, 27(5), 1997, pp. 397-401
THE GENETICS OF CHILDHOOD DEAFNESS
Authors: GARDNER J BEIGHTON P SELLARS SL
Citation: J. Gardner et al., THE GENETICS OF CHILDHOOD DEAFNESS, South African medical journal, 87(12), 1997, pp. 1661-1662
MSELENI AND HANDIGODU FAMILIAL OSTEOARTHROPATHIES - SYNDROMIC IDENTITY
Authors: AGARWAL SS PHADKE SR FREDLUND V VILJOEN D BEIGHTON P
Citation: Ss. Agarwal et al., MSELENI AND HANDIGODU FAMILIAL OSTEOARTHROPATHIES - SYNDROMIC IDENTITY, American journal of medical genetics, 72(4), 1997, pp. 435-439
FAMILIAL STREPTOMYCIN OTOTOXICITY IN A SOUTH-AFRICAN FAMILY - A MITOCHONDRIAL DISORDER
Authors: GARDNER JC GOLIATH R VILJOEN D SELLARS S CORTOPASSI G HUTCHIN T GREENBERG J BEIGHTON P
Citation: Jc. Gardner et al., FAMILIAL STREPTOMYCIN OTOTOXICITY IN A SOUTH-AFRICAN FAMILY - A MITOCHONDRIAL DISORDER, Journal of Medical Genetics, 34(11), 1997, pp. 904-906
EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY VILLEFRANCHE, 1997
Authors: BEIGHTON P DEPAEPE A STEINMANN B TSIPOURAS P WENSTRUP RJ
Citation: P. Beighton et al., EHLERS-DANLOS-SYNDROMES - REVISED NOSOLOGY VILLEFRANCHE, 1997, American journal of human genetics, 61(4), 1997, pp. 260-260
RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL
Authors: FONTAINE B NICOLE S TOPALOGLU H BENHAMIDA C BEIGHTON P SPAANS F CANTU JMA BAKOURI S ROMERO N RICKER K BARROSNUNEZ P PONSOT G BENHAMIDA M WEISSENBACH J HENTATI F LEHMANNHORN F
Citation: B. Fontaine et al., RECESSIVE SCHWARTZ-JAMPEL SYNDROME (SJS) - CONFIRMATION OF LINKAGE TOCHROMOSOME 1P, EVIDENCE OF GENETIC HOMOGENEITY AND REDUCTION OF THE SJS LOCUS TO A 3-CM INTERVAL, Human genetics, 98(3), 1996, pp. 380-385
MSELENI JOINT DISEASE - A MOLECULAR-GENETIC APPROACH TO DEFINING THE ETIOLOGY
Authors: BALLO R VILJOEN D MACHADO M KEENE D HORTON W FREDLUND V JACOBS M MARTELL R BEIGHTON P RAMESAR R
Citation: R. Ballo et al., MSELENI JOINT DISEASE - A MOLECULAR-GENETIC APPROACH TO DEFINING THE ETIOLOGY, South African medical journal, 86(8), 1996, pp. 956-958
OSTEOCHONDRODYSPLASIAS IN SOUTH-AFRICA
Authors: BEIGHTON P
Citation: P. Beighton, OSTEOCHONDRODYSPLASIAS IN SOUTH-AFRICA, American journal of medical genetics, 63(1), 1996, pp. 7-11
MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY
Authors: RAMESAR RS GREENBERG J MARTIN R GOLIATH R BARDIEN S MUNDLOS S BEIGHTON P
Citation: Rs. Ramesar et al., MAPPING OF THE GENE FOR CLEIDOCRANIAL DYSPLASIA IN THE HISTORICAL CAPE-TOWN (ARNOLD) KINDRED AND EVIDENCE FOR LOCUS HOMOGENEITY, Journal of Medical Genetics, 33(6), 1996, pp. 511-514
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, A DISORDER AFFECTING SKELETAL STRENGTH AND VISION, IS ASSIGNED TO CHROMOSOME REGION 11Q12-13
Authors: GONG YQ VIKKULA M BOON L LIU J BEIGHTON P RAMESAR R PELTONEN L SOMER H HIROSE T DALLAPICCOLA B DEPAEPE A SWOBODA W ZABEL B SUPERTIFURGA A STEINMANN B BRUNNER HG JANS A BOLES RG ADKINS W VANDENBOOGAARD MJ OLSEN BR WARMAN ML
Citation: Yq. Gong et al., OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, A DISORDER AFFECTING SKELETAL STRENGTH AND VISION, IS ASSIGNED TO CHROMOSOME REGION 11Q12-13, American journal of human genetics, 59(1), 1996, pp. 146-151
LOCALIZATION OF THE SCHWARTZ-JAMPEL SYNDROME (SJS) LOCUS TO CHROMOSOME 1P34-P36.1 BY HOMOZYGOSITY MAPPING
Authors: NICOLE S BENHAMIDA C BEIGHTON P BAKOURI S BELAL S ROMERO N VILJOEN D PONSOT G SAMMOUD A WEISSENBACH J FARDEAU M HAMIDA MB FONTAINE B HENTATI F
Citation: S. Nicole et al., LOCALIZATION OF THE SCHWARTZ-JAMPEL SYNDROME (SJS) LOCUS TO CHROMOSOME 1P34-P36.1 BY HOMOZYGOSITY MAPPING, Human molecular genetics, 4(9), 1995, pp. 1633-1636
AN 8TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS LINKED TOCHROMOSOME-17Q
Authors: BARDIEN S EBENEZER N GREENBERG J INGLEHEARN CF BARTMANN L GOLIATH R BEIGHTON P RAMESAR R BHATTACHARYA SS
Citation: S. Bardien et al., AN 8TH LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS LINKED TOCHROMOSOME-17Q, Human molecular genetics, 4(8), 1995, pp. 1459-1462
MEDICAL GENETICS IN PRIMARY HEALTH-CARE
Authors: VILJOEN D BEIGHTON P HITZEROTH H
Citation: D. Viljoen et al., MEDICAL GENETICS IN PRIMARY HEALTH-CARE, South African medical journal, 85(1), 1995, pp. 1-3
SPONDYLOENCHONDROMATOSIS - SYNDROMIC IDENTITY AND EVOLUTION OF THE PHENOTYPE
Authors: ZACK P BEIGHTON P
Citation: P. Zack et P. Beighton, SPONDYLOENCHONDROMATOSIS - SYNDROMIC IDENTITY AND EVOLUTION OF THE PHENOTYPE, American journal of medical genetics, 55(4), 1995, pp. 478-482
CRANIOMETAPHYSEAL DYSPLASIA (CMD), AUTOSOMAL-DOMINANT FORM
Authors: BEIGHTON P
Citation: P. Beighton, CRANIOMETAPHYSEAL DYSPLASIA (CMD), AUTOSOMAL-DOMINANT FORM, Journal of Medical Genetics, 32(5), 1995, pp. 370-374
FINE LOCALIZATION OF THE LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME 17P
Authors: GOLIATH R SHUGART Y JANSSENS P WEISSENBACH J BEIGHTON P RAMASAR R GREENBERG J
Citation: R. Goliath et al., FINE LOCALIZATION OF THE LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON CHROMOSOME 17P, American journal of human genetics, 57(4), 1995, pp. 962-965
A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON THE SHORT ARM OF CHROMOSOME-17
Authors: GREENBERG J GOLIATH R BEIGHTON P RAMESAR R
Citation: J. Greenberg et al., A NEW LOCUS FOR AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA ON THE SHORT ARM OF CHROMOSOME-17, Human molecular genetics, 3(6), 1994, pp. 915-918
A SPLICE JUNCTION MUTATION IN PAX3 CAUSES WAARDENBURG SYNDROME IN A SOUTH-AFRICAN FAMILY
Authors: BUTT J GREENBERG J WINSHIP I SELLARS S BEIGHTON P RAMESAR R
Citation: J. Butt et al., A SPLICE JUNCTION MUTATION IN PAX3 CAUSES WAARDENBURG SYNDROME IN A SOUTH-AFRICAN FAMILY, Human molecular genetics, 3(1), 1994, pp. 197-198
BONE DYSPLASIAS OF INFANCY IN THE VIENNA COLLECTION
Authors: BEIGHTON P SUJANSKY E PATZAK B PORTELE KA
Citation: P. Beighton et al., BONE DYSPLASIAS OF INFANCY IN THE VIENNA COLLECTION, Pediatric radiology, 24(6), 1994, pp. 384-386
DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PREVALENCE IN SOUTH-AFRICA ANDMOLECULAR FINDINGS IN 128 PERSONS AFFECTED
Authors: BALLO R VILJOEN D BEIGHTON P
Citation: R. Ballo et al., DUCHENNE AND BECKER MUSCULAR-DYSTROPHY PREVALENCE IN SOUTH-AFRICA ANDMOLECULAR FINDINGS IN 128 PERSONS AFFECTED, South African medical journal, 84(8), 1994, pp. 494-497
GENETIC-MAPPING OF RETINITIS-PIGMENTOSA - IMPLICATIONS FOR SOUTH-AFRICAN PATIENTS - A REVIEW
Authors: GREENBERG J RAMESAR R BEIGHTON P
Citation: J. Greenberg et al., GENETIC-MAPPING OF RETINITIS-PIGMENTOSA - IMPLICATIONS FOR SOUTH-AFRICAN PATIENTS - A REVIEW, South African medical journal, 84(7), 1994, pp. 410-412
Risultati: 1-25 | 26-33