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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1.
Theisen A, Rosenfeld JA, Shane K, McBride KL, Atkin JF, Gaba C, Hoo J, Kurczynski TW, Schnur RE, Coffey LB, Zackai EH, Schimmenti L, Friedman N, Zabukovec M, Ball S, Pagon R, Lucas A, Brasington CK, Spence JE, Sparks S, Banks V, Smith W, Friedberg T, Wyatt PR, Aust M, Tervo R, Crowley A, Skidmore D, Lamb AN, Ravnan B, Sahoo T, Schultz R, Torchia BS, Sgro M, Chitayat D, Shaffer LG. Theisen A, et al. Among authors: chitayat d. Mol Syndromol. 2010;1(5):262-271. doi: 10.1159/000328405. Epub 2011 May 18. Mol Syndromol. 2010. PMID: 22140379 Free PMC article.
Diagnostic utility of microarray testing in pregnancy loss.
Rosenfeld JA, Tucker ME, Escobar LF, Neill NJ, Torchia BS, McDaniel LD, Schultz RA, Chong K, Chitayat D. Rosenfeld JA, et al. Among authors: chitayat d. Ultrasound Obstet Gynecol. 2015 Oct;46(4):478-86. doi: 10.1002/uog.14866. Epub 2015 Sep 1. Ultrasound Obstet Gynecol. 2015. PMID: 25846569 Free article.
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: chitayat d. 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
Referral patterns for microarray testing in prenatal diagnosis.
Shaffer LG, Dabell MP, Rosenfeld JA, Neill NJ, Ballif BC, Coppinger J, Diwan NR, Chong K, Shohat M, Chitayat D. Shaffer LG, et al. Among authors: chitayat d. Prenat Diagn. 2012 Apr;32(4):344-50. doi: 10.1002/pd.3856. Prenat Diagn. 2012. PMID: 22467165
Keppen-Lubinsky syndrome: Expanding the phenotype.
Basel-Vanagaite L, Shaffer L, Chitayat D. Basel-Vanagaite L, et al. Among authors: chitayat d. 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.
565 results