Hamersma H - Search Results

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: hamersma h. 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.

2

A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population.

Staehling-Hampton K, Proll S, Paeper BW, Zhao L, Charmley P, Brown A, Gardner JC, Galas D, Schatzman RC, Beighton P, Papapoulos S, Hamersma H, Brunkow ME. Staehling-Hampton K, et al. Among authors: hamersma h. Am J Med Genet. 2002 Jun 15;110(2):144-52. doi: 10.1002/ajmg.10401. Am J Med Genet. 2002. PMID: 12116252

3

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

4

Sclerosteosis in South Africa.

Beighton P, Hamersma H. Beighton P, et al. Among authors: hamersma h. S Afr Med J. 1979 May 12;55(20):783-8. S Afr Med J. 1979. PMID: 223247

5

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: hamersma h. 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.

6

Dental and oral manifestations of sclerosteosis.

Stephen LX, Hamersma H, Gardner J, Beighton P. Stephen LX, et al. Among authors: hamersma h. Int Dent J. 2001 Aug;51(4):287-90. doi: 10.1002/j.1875-595x.2001.tb00840.x. Int Dent J. 2001. PMID: 11570544

7

Sclerosteosis - an autosomal recessive disorder.

Beighton P, Davidson J, Durr L, Hamersma H. Beighton P, et al. Among authors: hamersma h. Clin Genet. 1977 Jan;11(1):1-7. doi: 10.1111/j.1399-0004.1977.tb01269.x. Clin Genet. 1977. PMID: 187366

8

The syndromic status of sclerosteosis and van Buchem disease.

Beighton P, Barnard A, Hamersma H, van der Wouden A. Beighton P, et al. Among authors: hamersma h. Clin Genet. 1984 Feb;25(2):175-81. doi: 10.1111/j.1399-0004.1984.tb00481.x. Clin Genet. 1984. PMID: 6323069

9

Frontometaphyseal dysplasia: autosomal dominant or X-linked?

Beighton P, Hamersma H. Beighton P, et al. Among authors: hamersma h. 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.

10

Bone mineral density in sclerosteosis; affected individuals and gene carriers.

Gardner JC, van Bezooijen RL, Mervis B, Hamdy NA, Löwik CW, Hamersma H, Beighton P, Papapoulos SE. Gardner JC, et al. Among authors: hamersma h. J Clin Endocrinol Metab. 2005 Dec;90(12):6392-5. doi: 10.1210/jc.2005-1235. Epub 2005 Sep 27. J Clin Endocrinol Metab. 2005. PMID: 16189254

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