Bowcock AM - Search Results

1

SNTG1, the gene encoding gamma1-syntrophin: a candidate gene for idiopathic scoliosis.

Bashiardes S, Veile R, Allen M, Wise CA, Dobbs M, Morcuende JA, Szappanos L, Herring JA, Bowcock AM, Lovett M. Bashiardes S, et al. Among authors: bowcock am. Hum Genet. 2004 Jun;115(1):81-9. doi: 10.1007/s00439-004-1121-y. Epub 2004 Apr 16. Hum Genet. 2004. PMID: 15088139

2

CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis.

Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, Weber S, Devroy S, Swaney S, Dobbs M, Morcuende J, Sheffield V, Lovett M, Bowcock A, Herring J, Wise C. Gao X, et al. Am J Hum Genet. 2007 May;80(5):957-65. doi: 10.1086/513571. Epub 2007 Mar 12. Am J Hum Genet. 2007. PMID: 17436250 Free PMC article.

3

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

Gurnett CA, Veile R, Zempel J, Blackburn L, Lovett M, Bowcock A. Gurnett CA, et al. Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550. Arch Neurol. 2008. PMID: 18413482

4

Direct genomic selection.

Bashiardes S, Veile R, Helms C, Mardis ER, Bowcock AM, Lovett M. Bashiardes S, et al. Among authors: bowcock am. Nat Methods. 2005 Jan;2(1):63-9. doi: 10.1038/nmeth0105-63. Nat Methods. 2005. PMID: 16152676 No abstract available.

5

Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.

Gurnett CA, Dobbs MB, Nordsieck EJ, Keppel C, Goldfarb CA, Morcuende JA, Bowcock AM. Gurnett CA, et al. Among authors: bowcock am. Am J Med Genet A. 2006 Aug 15;140(16):1744-8. doi: 10.1002/ajmg.a.31375. Am J Med Genet A. 2006. PMID: 16838310

6

Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.

Gurnett CA, Bowcock AM, Dietz FR, Morcuende JA, Murray JC, Dobbs MB. Gurnett CA, et al. Among authors: bowcock am. Am J Med Genet A. 2007 Jan 1;143A(1):27-32. doi: 10.1002/ajmg.a.31563. Am J Med Genet A. 2007. PMID: 17152067

7

Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.

Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Gurnett CA, et al. Among authors: bowcock am. Am J Hum Genet. 2008 Nov;83(5):616-22. doi: 10.1016/j.ajhg.2008.10.004. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950742 Free PMC article.

8

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT, Cao L, Roberson ED, Duan S, Helms CA, Nair RP, Duffin KC, Stuart PE, Goldgar D, Hayashi G, Olfson EH, Feng BJ, Pullinger CR, Kane JP, Wise CA, Goldbach-Mansky R, Lowes MA, Peddle L, Chandran V, Liao W, Rahman P, Krueger GG, Gladman D, Elder JT, Menter A, Bowcock AM. Jordan CT, et al. Among authors: bowcock am. Am J Hum Genet. 2012 May 4;90(5):796-808. doi: 10.1016/j.ajhg.2012.03.013. Epub 2012 Apr 19. Am J Hum Genet. 2012. PMID: 22521419 Free PMC article.

9

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. Speckman RA, et al. Among authors: bowcock am. Am J Hum Genet. 2000 Apr;66(4):1192-8. doi: 10.1086/302836. Am J Hum Genet. 2000. PMID: 10739751 Free PMC article.

10

Localization of susceptibility to familial idiopathic scoliosis.

Wise CA, Barnes R, Gillum J, Herring JA, Bowcock AM, Lovett M. Wise CA, et al. Among authors: bowcock am. Spine (Phila Pa 1976). 2000 Sep 15;25(18):2372-80. doi: 10.1097/00007632-200009150-00017. Spine (Phila Pa 1976). 2000. PMID: 10984791

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