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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: towbin ja. BMC Med Genet. 2005 Feb 14;6:8. doi: 10.1186/1471-2350-6-8. BMC Med Genet. 2005. PMID: 15710038 Free PMC article.
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.
20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits.
Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. Lalani SR, et al. Among authors: towbin ja. J Med Genet. 2009 Mar;46(3):168-75. doi: 10.1136/jmg.2008.061002. Epub 2008 Sep 23. J Med Genet. 2009. PMID: 18812404 Free PMC article.
Molecular genetics of heterotaxy syndromes.
Belmont JW, Mohapatra B, Towbin JA, Ware SM. Belmont JW, et al. Among authors: towbin ja. Curr Opin Cardiol. 2004 May;19(3):216-20. doi: 10.1097/00001573-200405000-00005. Curr Opin Cardiol. 2004. PMID: 15096953 Review.
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Among authors: towbin ja. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.
545 results