Towbin J - Search Results

1

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

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

Revised fine mapping of the human voltage-dependent anion channel loci by radiation hybrid analysis.

Decker WK, Bowles KR, Schatte EC, Towbin JA, Craigen WJ. Decker WK, et al. Among authors: towbin ja. Mamm Genome. 1999 Oct;10(10):1041-2. doi: 10.1007/s003359901158. Mamm Genome. 1999. PMID: 10501981 No abstract available.

4

Construction of a high-resolution physical map of the chromosome 10q22-q23 dilated cardiomyopathy locus and analysis of candidate genes.

Bowles KR, Abraham SE, Brugada R, Zintz C, Comeaux J, Sorajja D, Tsubata S, Li H, Brandon L, Gibbs RA, Scherer SE, Bowles NE, Towbin JA. Bowles KR, et al. Among authors: towbin ja. Genomics. 2000 Jul 15;67(2):109-27. doi: 10.1006/geno.2000.6242. Genomics. 2000. PMID: 10903836

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

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

7

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.

Pignatelli RH, McMahon CJ, Dreyer WJ, Denfield SW, Price J, Belmont JW, Craigen WJ, Wu J, El Said H, Bezold LI, Clunie S, Fernbach S, Bowles NE, Towbin JA. Pignatelli RH, et al. Among authors: towbin ja. Circulation. 2003 Nov 25;108(21):2672-8. doi: 10.1161/01.CIR.0000100664.10777.B8. Epub 2003 Nov 17. Circulation. 2003. PMID: 14623814

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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