Fernbach SD - Search Results

1

SNP genotyping to screen for a common deletion in CHARGE syndrome.

Lalani SR, Safiullah AM, Fernbach SD, Phillips M, Bacino CA, Molinari LM, Glass NL, Towbin JA, Craigen WJ, Belmont JW. Lalani SR, et al. Among authors: fernbach sd. BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8. BMC Med Genet. 2005. PMID: 15710038 Free PMC article.

2

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

3

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: fernbach sd. 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

4

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. Circulation. 2003 Nov 25;108(21):2672-8. doi: 10.1161/01.CIR.0000100664.10777.B8. Epub 2003 Nov 17. Circulation. 2003. PMID: 14623814

5

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. 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.

6

SEMA3E mutation in a patient with CHARGE syndrome.

Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. Lalani SR, et al. Among authors: fernbach sd. J Med Genet. 2004 Jul;41(7):e94. doi: 10.1136/jmg.2003.017640. J Med Genet. 2004. PMID: 15235037 Free PMC article. No abstract available.

7

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.

8

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. 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

9

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: fernbach sd. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086

10

Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability.

McBride KL, Pignatelli R, Lewin M, Ho T, Fernbach S, Menesses A, Lam W, Leal SM, Kaplan N, Schliekelman P, Towbin JA, Belmont JW. McBride KL, et al. Am J Med Genet A. 2005 Apr 15;134A(2):180-6. doi: 10.1002/ajmg.a.30602. Am J Med Genet A. 2005. PMID: 15690347 Free PMC article.

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