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Down syndrome phenotypes: the consequences of chromosomal imbalance.
Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, et al. Korenberg JR, et al. Among authors: carpenter n. Proc Natl Acad Sci U S A. 1994 May 24;91(11):4997-5001. doi: 10.1073/pnas.91.11.4997. Proc Natl Acad Sci U S A. 1994. PMID: 8197171 Free PMC article.
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies.
Korbel JO, Tirosh-Wagner T, Urban AE, Chen XN, Kasowski M, Dai L, Grubert F, Erdman C, Gao MC, Lange K, Sobel EM, Barlow GM, Aylsworth AS, Carpenter NJ, Clark RD, Cohen MY, Doran E, Falik-Zaccai T, Lewin SO, Lott IT, McGillivray BC, Moeschler JB, Pettenati MJ, Pueschel SM, Rao KW, Shaffer LG, Shohat M, Van Riper AJ, Warburton D, Weissman S, Gerstein MB, Snyder M, Korenberg JR. Korbel JO, et al. Proc Natl Acad Sci U S A. 2009 Jul 21;106(29):12031-6. doi: 10.1073/pnas.0813248106. Epub 2009 Jul 13. Proc Natl Acad Sci U S A. 2009. PMID: 19597142 Free PMC article.
Down syndrome due to 21;21 translocation in a male twin.
Balfour B, Say B, Geffen WA, Morgan DG, Carpenter NJ, Munshi G. Balfour B, et al. Among authors: carpenter nj. Clin Genet. 1979 Dec;16(6):383-6. doi: 10.1111/j.1399-0004.1979.tb01345.x. Clin Genet. 1979. PMID: 160848
Familial deletion of chromosome 18 (p11.2).
Velagaleti GV, Harris S, Carpenter NJ, Coldwell J, Say B. Velagaleti GV, et al. Among authors: carpenter nj. Ann Genet. 1996;39(4):201-4. Ann Genet. 1996. PMID: 9037347
129 results