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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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