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Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Among authors: devaney jm. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.
Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).
Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, Larderet G, Brahmbhatt B, Brown K, Bauce B, Muriago M, Basso C, Thiene G, Danieli GA, Rampazzo A. Tiso N, et al. Among authors: devaney jm. Hum Mol Genet. 2001 Feb 1;10(3):189-94. doi: 10.1093/hmg/10.3.189. Hum Mol Genet. 2001. PMID: 11159936
Characterization of the ZBTB42 gene in humans and mice.
Devaney SA, Mate SE, Devaney JM, Hoffman EP. Devaney SA, et al. Among authors: devaney jm. Hum Genet. 2011 Apr;129(4):433-41. doi: 10.1007/s00439-010-0940-2. Epub 2010 Dec 31. Hum Genet. 2011. PMID: 21193930 Free PMC article.
AKT1 polymorphisms are associated with risk for metabolic syndrome.
Devaney JM, Gordish-Dressman H, Harmon BT, Bradbury MK, Devaney SA, Harris TB, Thompson PD, Clarkson PM, Price TB, Angelopoulos TJ, Gordon PM, Moyna NM, Pesca LS, VIsich PS, Zoeller RF, Seip RL, Seo J, Kim BH, Tosi LL, Garcia M, Li R, Zmuda J, Delmonico MJ, Lindsay RS, Howard BV, Kraus WE, Hoffman EP. Devaney JM, et al. Among authors: devaney sa. Hum Genet. 2011 Feb;129(2):129-39. doi: 10.1007/s00439-010-0910-8. Hum Genet. 2011. PMID: 21061022 Free PMC article.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Bai R, Cui H, Devaney JM, Allis KM, Balog AM, Liu X, Schnur RE, Shapiro FL, Brautbar A, Estrada-Veras JI, Hochstetler L, McConkie-Rosell A, McDonald MT, Solomon BD, Hofherr S, Richard G, Suchy SF. Bai R, et al. Among authors: devaney jm. Genet Med. 2021 Aug;23(8):1514-1521. doi: 10.1038/s41436-021-01166-1. Epub 2021 Apr 12. Genet Med. 2021. PMID: 33846581 Free article.
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A. Simons C, et al. Among authors: devaney jm. Am J Hum Genet. 2013 May 2;92(5):767-73. doi: 10.1016/j.ajhg.2013.03.018. Epub 2013 Apr 11. Am J Hum Genet. 2013. PMID: 23582646 Free PMC article.
IGF-II gene region polymorphisms related to exertional muscle damage.
Devaney JM, Hoffman EP, Gordish-Dressman H, Kearns A, Zambraski E, Clarkson PM. Devaney JM, et al. J Appl Physiol (1985). 2007 May;102(5):1815-23. doi: 10.1152/japplphysiol.01165.2006. Epub 2007 Feb 8. J Appl Physiol (1985). 2007. PMID: 17289909 Free article.
133 results