Beighton P - Search Results

1

Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur ST, Shiang R, Grange DK, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral AC, Sommer A, Raposo do Amaral CM, Gorlin RJ, Mulliken JB, Olsen BR. Reichenberger E, et al. Among authors: beighton p. Am J Hum Genet. 2001 Jun;68(6):1321-6. doi: 10.1086/320612. Epub 2001 Apr 16. Am J Hum Genet. 2001. PMID: 11326338 Free PMC article.

2

A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

Gleghorn L, Ramesar R, Beighton P, Wallis G. Gleghorn L, et al. Among authors: beighton p. Am J Hum Genet. 2005 Sep;77(3):484-90. doi: 10.1086/444401. Epub 2005 Jul 22. Am J Hum Genet. 2005. PMID: 16080123 Free PMC article.

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

Brachyolmia: an autosomal dominant form.

Gardner J, Beighton P. Gardner J, et al. Among authors: beighton p. Am J Med Genet. 1994 Feb 1;49(3):308-12. doi: 10.1002/ajmg.1320490313. Am J Med Genet. 1994. PMID: 8209891

6

Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.

Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J. Brunkow ME, et al. Among authors: beighton p. Am J Hum Genet. 2001 Mar;68(3):577-89. doi: 10.1086/318811. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179006 Free PMC article.

7

Craniometaphyseal dysplasia--variability of expression within a large family.

Beighton P, Hamersma H, Horan F. Beighton P, et al. Clin Genet. 1979 Mar;15(3):252-8. doi: 10.1111/j.1399-0004.1979.tb00976.x. Clin Genet. 1979. PMID: 421364

8

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

Beighton P, Hamersma H. Beighton P, et al. J Med Genet. 1980 Feb;17(1):53-6. doi: 10.1136/jmg.17.1.53. J Med Genet. 1980. PMID: 7189217 Free PMC article.

9

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

10

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

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