Beighton P - Search Results

1

X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats.

Bassi MT, Ramesar RS, Caciotti B, Winship IM, De Grandi A, Riboni M, Townes PL, Beighton P, Ballabio A, Borsani G. Bassi MT, et al. Among authors: beighton p. Am J Hum Genet. 1999 Jun;64(6):1604-16. doi: 10.1086/302408. Am J Hum Genet. 1999. PMID: 10330347 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

Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.

Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS. Ballo R, et al. Among authors: beighton ph. Am J Med Genet. 1997 Feb 11;68(4):396-400. Am J Med Genet. 1997. PMID: 9021009

4

X-linked inheritance of ocular albinism with late-onset sensorineural deafness.

Winship I, Gericke G, Beighton P. Winship I, et al. Among authors: beighton p. Am J Med Genet. 1984 Dec;19(4):797-803. doi: 10.1002/ajmg.1320190421. Am J Med Genet. 1984. PMID: 6542750

5

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

6

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

7

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

8

Boomerang dysplasia.

Winship I, Cremin B, Beighton P. Winship I, et al. Among authors: beighton p. Am J Med Genet. 1990 Aug;36(4):440-3. doi: 10.1002/ajmg.1320360413. Am J Med Genet. 1990. PMID: 2202214 Review.

9

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

10

Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Spritz RA, Holmes SA, Ramesar R, Greenberg J, Curtis D, Beighton P. Spritz RA, et al. Among authors: beighton p. Am J Hum Genet. 1992 Nov;51(5):1058-65. Am J Hum Genet. 1992. PMID: 1384325 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

399 results

Search Page

Filters