Belmont JW - Search Results

1

Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

Roessler E, Pei W, Ouspenskaia MV, Karkera JD, Veléz JI, Banerjee-Basu S, Gibney G, Lupo PJ, Mitchell LE, Towbin JA, Bowers P, Belmont JW, Goldmuntz E, Baxevanis AD, Feldman B, Muenke M. Roessler E, et al. Among authors: belmont jw. Mol Genet Metab. 2009 Sep-Oct;98(1-2):225-34. doi: 10.1016/j.ymgme.2009.05.005. Epub 2009 May 27. Mol Genet Metab. 2009. PMID: 19553149 Free PMC article.

2

Recent progress in the molecular genetics of congenital heart defects.

Belmont JW. Belmont JW. Clin Genet. 1998 Jul;54(1):11-9. doi: 10.1111/j.1399-0004.1998.tb03685.x. Clin Genet. 1998. PMID: 9727732 Review.

3

The molecular basis of vascular disorders.

Towbin JA, Casey B, Belmont J. Towbin JA, et al. Am J Hum Genet. 1999 Mar;64(3):678-84. doi: 10.1086/302303. Am J Hum Genet. 1999. PMID: 10053000 Free PMC article. Review. No abstract available.

4

Molecular determinants of left and right outflow tract obstruction.

Towbin JA, Belmont J. Towbin JA, et al. Am J Med Genet. 2000 Winter;97(4):297-303. doi: 10.1002/1096-8628(200024)97:4<297::aid-ajmg1280>3.0.co;2-o. Am J Med Genet. 2000. PMID: 11376441 Review.

5

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Maheshwari M, et al. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

6

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Lalani SR, et al. Among authors: belmont jw. Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002. Am J Med Genet A. 2003. PMID: 12673657

7

Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects.

Ware SM, Peng J, Zhu L, Fernbach S, Colicos S, Casey B, Towbin J, Belmont JW. Ware SM, et al. Among authors: belmont jw. Am J Hum Genet. 2004 Jan;74(1):93-105. doi: 10.1086/380998. Epub 2003 Dec 16. Am J Hum Genet. 2004. PMID: 14681828 Free PMC article.

8

Molecular genetics of heterotaxy syndromes.

Belmont JW, Mohapatra B, Towbin JA, Ware SM. Belmont JW, et al. Curr Opin Cardiol. 2004 May;19(3):216-20. doi: 10.1097/00001573-200405000-00005. Curr Opin Cardiol. 2004. PMID: 15096953 Review.

9

A family-based association study of congenital left-sided heart malformations and 5,10 methylenetetrahydrofolate reductase.

McBride KL, Fernbach S, Menesses A, Molinari L, Quay E, Pignatelli R, Towbin JA, Belmont JW. McBride KL, et al. Among authors: belmont jw. Birth Defects Res A Clin Mol Teratol. 2004 Oct;70(10):825-30. doi: 10.1002/bdra.20049. Birth Defects Res A Clin Mol Teratol. 2004. PMID: 15390319

10

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Scaglia F, et al. Among authors: belmont jw. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086

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