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Page 1
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: gardner jc. 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.
The natural history of sclerosteosis.
Hamersma H, Gardner J, Beighton P. Hamersma H, et al. Clin Genet. 2003 Mar;63(3):192-7. doi: 10.1034/j.1399-0004.2003.00036.x. Clin Genet. 2003. PMID: 12694228
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. 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.
Dental and oral manifestations of sclerosteosis.
Stephen LX, Hamersma H, Gardner J, Beighton P. Stephen LX, et al. Int Dent J. 2001 Aug;51(4):287-90. doi: 10.1002/j.1875-595x.2001.tb00840.x. Int Dent J. 2001. PMID: 11570544
Brachyolmia: an autosomal dominant form.
Gardner J, Beighton P. Gardner J, et al. Am J Med Genet. 1994 Feb 1;49(3):308-12. doi: 10.1002/ajmg.1320490313. Am J Med Genet. 1994. PMID: 8209891
The genetics of childhood deafness.
Gardner J, Beighton P, Sellars SL. Gardner J, et al. S Afr Med J. 1997 Dec;87(12):1661-2. S Afr Med J. 1997. PMID: 9497826 No abstract available.
The Gordon syndrome revisited.
Basel D, Sobey G, Gardner J, Beighton P. Basel D, et al. S Afr Med J. 2000 Sep;90(9):864-7. S Afr Med J. 2000. PMID: 11081133 No abstract available.
105 results