Gardner JC - 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: 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.

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: gardner jc. 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

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.

5

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

6

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

7

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. 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

8

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.

9

Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder.

Gardner JC, Goliath R, Viljoen D, Sellars S, Cortopassi G, Hutchin T, Greenberg J, Beighton P. Gardner JC, et al. J Med Genet. 1997 Nov;34(11):904-6. doi: 10.1136/jmg.34.11.904. J Med Genet. 1997. PMID: 9391883 Free PMC article.

10

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.

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