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Keppen-Lubinsky syndrome: Expanding the phenotype.
Basel-Vanagaite L, Shaffer L, Chitayat D. Basel-Vanagaite L, et al. Among authors: shaffer l. Am J Med Genet A. 2009 Aug;149A(8):1827-9. doi: 10.1002/ajmg.a.32975. Am J Med Genet A. 2009. PMID: 19610118 No abstract available.
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformation.
Handrigan GR, Chitayat D, Lionel AC, Pinsk M, Vaags AK, Marshall CR, Dyack S, Escobar LF, Fernandez BA, Stegman JC, Rosenfeld JA, Shaffer LG, Goodenberger M, Hodge JC, Cain JE, Babul-Hirji R, Stavropoulos DJ, Yiu V, Scherer SW, Rosenblum ND. Handrigan GR, et al. J Med Genet. 2013 Mar;50(3):163-73. doi: 10.1136/jmedgenet-2012-101288. Epub 2013 Jan 18. J Med Genet. 2013. PMID: 23335808
Duplication of the STS region in males is a benign copy-number variant.
Furrow A, Theisen A, Velsher L, Bawle EV, Sastry S, Mendelsohn NJ, Jarvis K, Shaffer LG, Chitayat D. Furrow A, et al. Among authors: shaffer lg. Am J Med Genet A. 2011 Aug;155A(8):1972-5. doi: 10.1002/ajmg.a.33985. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739574
Human chromosome 7: DNA sequence and biology.
Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Scherer SW, et al. Among authors: shaffer lg. Science. 2003 May 2;300(5620):767-72. doi: 10.1126/science.1083423. Epub 2003 Apr 10. Science. 2003. PMID: 12690205 Free PMC article.
551 results