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917 results

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Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics.
Cheung SW, Shaw CA, Scott DA, Patel A, Sahoo T, Bacino CA, Pursley A, Li J, Erickson R, Gropman AL, Miller DT, Seashore MR, Summers AM, Stankiewicz P, Chinault AC, Lupski JR, Beaudet AL, Sutton VR. Cheung SW, et al. Among authors: scott da. Am J Med Genet A. 2007 Aug 1;143A(15):1679-86. doi: 10.1002/ajmg.a.31740. Am J Med Genet A. 2007. PMID: 17607705
Congenital diaphragmatic hernia in WAGR syndrome.
Scott DA, Cooper ML, Stankiewicz P, Patel A, Potocki L, Cheung SW. Scott DA, et al. Am J Med Genet A. 2005 May 1;134(4):430-3. doi: 10.1002/ajmg.a.30654. Am J Med Genet A. 2005. PMID: 15779010 Review.
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly.
Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, Bibat G, Patel A, Leroy JG, Scaglia F, Stankiewicz P, Lupski JR. Yatsenko SA, et al. Among authors: scott da. J Med Genet. 2005 Apr;42(4):328-35. doi: 10.1136/jmg.2004.028258. J Med Genet. 2005. PMID: 15805160 Free PMC article. No abstract available.
Congenital diaphragmatic hernia associated with duplication of 11q23-qter.
Klaassens M, Scott DA, van Dooren M, Hochstenbach R, Eussen HJ, Cai WW, Galjaard RJ, Wouters C, Poot M, Laudy J, Lee B, Tibboel D, de Klein A. Klaassens M, et al. Among authors: scott da. Am J Med Genet A. 2006 Jul 15;140(14):1580-6. doi: 10.1002/ajmg.a.31321. Am J Med Genet A. 2006. PMID: 16770801 Free PMC article.
Ovotestes and XY sex reversal in a female with an interstitial 9q33.3-q34.1 deletion encompassing NR5A1 and LMX1B causing features of Genitopatellar syndrome.
Schlaubitz S, Yatsenko SA, Smith LD, Keller KL, Vissers LE, Scott DA, Cai WW, Reardon W, Abdul-Rahman OA, Lammer EJ, Lifchez CA, Magenis E, Veltman JA, Stankiewicz P, Zabel BU, Lee B. Schlaubitz S, et al. Among authors: scott da. Am J Med Genet A. 2007 May 15;143A(10):1071-81. doi: 10.1002/ajmg.a.31685. Am J Med Genet A. 2007. PMID: 17431898
De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia.
Purandare SM, Mendoza-Londono R, Yatsenko SA, Napierala D, Scott DA, Sibai T, Casas K, Wilson P, Lee J, Muneer R, Leonard JC, Ramji FG, Lachman R, Li S, Stankiewicz P, Lee B, Mulvihill JJ. Purandare SM, et al. Among authors: scott da. Am J Med Genet A. 2008 Feb 15;146A(4):453-8. doi: 10.1002/ajmg.a.31750. Am J Med Genet A. 2008. PMID: 18203189 Free PMC article.
917 results