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Hirschsprung disease, associated syndromes and genetics: a review.
Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium. Amiel J, et al. Among authors: kashuk c. J Med Genet. 2008 Jan;45(1):1-14. doi: 10.1136/jmg.2007.053959. Epub 2007 Oct 26. J Med Genet. 2008. PMID: 17965226 Review.
Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability.
Emison ES, Garcia-Barcelo M, Grice EA, Lantieri F, Amiel J, Burzynski G, Fernandez RM, Hao L, Kashuk C, West K, Miao X, Tam PK, Griseri P, Ceccherini I, Pelet A, Jannot AS, de Pontual L, Henrion-Caude A, Lyonnet S, Verheij JB, Hofstra RM, Antiñolo G, Borrego S, McCallion AS, Chakravarti A. Emison ES, et al. Among authors: kashuk c. Am J Hum Genet. 2010 Jul 9;87(1):60-74. doi: 10.1016/j.ajhg.2010.06.007. Am J Hum Genet. 2010. PMID: 20598273 Free PMC article.
Genomic variation in multigenic traits: Hirschsprung disease.
McCallion AS, Emison ES, Kashuk CS, Bush RT, Kenton M, Carrasquillo MM, Jones KW, Kennedy GC, Portnoy ME, Green ED, Chakravarti A. McCallion AS, et al. Among authors: kashuk cs. Cold Spring Harb Symp Quant Biol. 2003;68:373-81. doi: 10.1101/sqb.2003.68.373. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338639 No abstract available.
Sequence variation within the fragile X locus.
Mathews DJ, Kashuk C, Brightwell G, Eichler EE, Chakravarti A. Mathews DJ, et al. Among authors: kashuk c. Genome Res. 2001 Aug;11(8):1382-91. doi: 10.1101/gr.172601. Genome Res. 2001. PMID: 11483579 Free PMC article.
A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.
Arking DE, Pfeufer A, Post W, Kao WH, Newton-Cheh C, Ikeda M, West K, Kashuk C, Akyol M, Perz S, Jalilzadeh S, Illig T, Gieger C, Guo CY, Larson MG, Wichmann HE, Marbán E, O'Donnell CJ, Hirschhorn JN, Kääb S, Spooner PM, Meitinger T, Chakravarti A. Arking DE, et al. Among authors: kashuk c. Nat Genet. 2006 Jun;38(6):644-51. doi: 10.1038/ng1790. Epub 2006 Apr 30. Nat Genet. 2006. PMID: 16648850
16 results