Beighton P - Search Results

1

Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.

Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Gong Y, et al. Among authors: beighton p. Am J Hum Genet. 1996 Jul;59(1):146-51. Am J Hum Genet. 1996. PMID: 8659519 Free PMC article.

2

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene.

Ballo R, Beighton PH, Ramesar RS. Ballo R, et al. Among authors: beighton ph. Am J Med Genet. 1998 Oct 30;80(1):6-11. doi: 10.1002/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0. Am J Med Genet. 1998. PMID: 9800905

3

Autosomal dominant (Beukes) premature degenerative osteoarthropathy of the hip joint unlinked to COL2A1.

Beighton P, Cilliers HJ, Ramesar R. Beighton P, et al. Am J Med Genet. 1994 Dec 1;53(4):348-51. doi: 10.1002/ajmg.1320530408. Am J Med Genet. 1994. PMID: 7864044

4

A new locus for autosomal dominant retinitis pigmentosa on the short arm of chromosome 17.

Greenberg J, Goliath R, Beighton P, Ramesar R. Greenberg J, et al. Among authors: beighton p. Hum Mol Genet. 1994 Jun;3(6):915-8. doi: 10.1093/hmg/3.6.915. Hum Mol Genet. 1994. PMID: 7951236

5

Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South african families.

Ramesar RS, Bardien S, Beighton P, Bryer A. Ramesar RS, et al. Among authors: beighton p. Hum Genet. 1997 Jul;100(1):131-7. doi: 10.1007/s004390050478. Hum Genet. 1997. PMID: 9225982

6

An eighth locus for autosomal dominant retinitis pigmentosa is linked to chromosome 17q.

Bardien S, Ebenezer N, Greenberg J, Inglehearn CF, Bartmann L, Goliath R, Beighton P, Ramesar R, Bhattacharya SS. Bardien S, et al. Among authors: beighton p. Hum Mol Genet. 1995 Aug;4(8):1459-62. doi: 10.1093/hmg/4.8.1459. Hum Mol Genet. 1995. PMID: 7581389

7

Spondyloepiphyseal dysplasia in a Cape Town family: linkage with the gene for type II collagen (COL2A1).

Ramesar R, Beighton P. Ramesar R, et al. Among authors: beighton p. Am J Med Genet. 1992 Jul 15;43(5):833-8. doi: 10.1002/ajmg.1320430516. Am J Med Genet. 1992. PMID: 1353665

8

Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin.

Greenberg J, Babaya M, Ramesar R, Beighton P. Greenberg J, et al. Among authors: beighton p. Clin Genet. 1992 Jun;41(6):322-5. doi: 10.1111/j.1399-0004.1992.tb03406.x. Clin Genet. 1992. PMID: 1623630

9

Mild spondyloepiphyseal dysplasia (Namaqualand type): genetic linkage to the type II collagen gene COL2A1.

Sher C, Ramesar R, Martell R, Learmonth I, Tsipouras P, Beighton P. Sher C, et al. Among authors: beighton p. Am J Hum Genet. 1991 Mar;48(3):518-24. Am J Hum Genet. 1991. PMID: 1671807 Free PMC article.

10

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3).

Bach I, Brunner HG, Beighton P, Ruvalcaba RH, Reardon W, Pembrey ME, van der Velde-Visser SD, Bruns GA, Cremers CW, Cremers FP, et al. Bach I, et al. Among authors: beighton p. Am J Hum Genet. 1992 Jul;51(1):38-44. Am J Hum Genet. 1992. PMID: 1609803 Free PMC article.

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