Towbin J - Search Results

1

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Lalani SR, Ware SM, Wang X, Zapata G, Tian Q, Franco LM, Jiang Z, Bucasas K, Scott DA, Campeau PM, Hanchard N, Umaña L, Cast A, Patel A, Cheung SW, McBride KL, Bray M, Craig Chinault A, Boggs BA, Huang M, Baker MR, Hamilton S, Towbin J, Jefferies JL, Fernbach SD, Potocki L, Belmont JW. Lalani SR, et al. Among authors: towbin j. Hum Mol Genet. 2013 Nov 1;22(21):4339-48. doi: 10.1093/hmg/ddt283. Epub 2013 Jun 16. Hum Mol Genet. 2013. PMID: 23773997 Free PMC article.

2

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.

3

Genomic organization and chromosomal localization of the human Coxsackievirus B-adenovirus receptor gene.

Bowles KR, Gibson J, Wu J, Shaffer LG, Towbin JA, Bowles NE. Bowles KR, et al. Among authors: towbin ja. Hum Genet. 1999 Oct;105(4):354-9. doi: 10.1007/s004399900136. Hum Genet. 1999. PMID: 10543405

4

Genomic characterization of the human peptidyl-prolyl-cis-trans-isomerase, mitochondrial precursor gene: assessment of its role in familial dilated cardiomyopathy.

Bowles KR, Zintz C, Abraham SE, Brandon L, Bowles NE, Towbin JA. Bowles KR, et al. Among authors: towbin ja. Hum Genet. 1999 Dec;105(6):582-6. doi: 10.1007/s004399900173. Hum Genet. 1999. PMID: 10647893

5

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.

6

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. Among authors: towbin j. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

7

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: towbin ja. 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

8

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: towbin j. 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.

9

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.

10

Echocardiographic evaluation of asymptomatic parental and sibling cardiovascular anomalies associated with congenital left ventricular outflow tract lesions.

Lewin MB, McBride KL, Pignatelli R, Fernbach S, Combes A, Menesses A, Lam W, Bezold LI, Kaplan N, Towbin JA, Belmont JW. Lewin MB, et al. Pediatrics. 2004 Sep;114(3):691-6. doi: 10.1542/peds.2003-0782-L. Pediatrics. 2004. PMID: 15342840 Free PMC article.

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