Scott DA - Search Results

1

Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability.

Grau C, Starkovich M, Azamian MS, Xia F, Cheung SW, Evans P, Henderson A, Lalani SR, Scott DA. Grau C, et al. Among authors: scott da. PLoS One. 2017 Apr 17;12(4):e0175962. doi: 10.1371/journal.pone.0175962. eCollection 2017. PLoS One. 2017. PMID: 28414775 Free PMC article.

2

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.

3

WAGR(O?) syndrome and congenital ptosis caused by an unbalanced t(11;15)(p13;p11.2)dn demonstrating a 7 megabase deletion by FISH.

Lennon PA, Scott DA, Lonsdorf D, Wargowski DS, Kirkpatrick S, Patel A, Cheung SW. Lennon PA, et al. Among authors: scott da. Am J Med Genet A. 2006 Jun 1;140(11):1214-8. doi: 10.1002/ajmg.a.31229. Am J Med Genet A. 2006. PMID: 16646034

4

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

5

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SH. Wat MJ, et al. Among authors: scott da. Am J Med Genet A. 2009 Aug;149A(8):1661-77. doi: 10.1002/ajmg.a.32896. Am J Med Genet A. 2009. PMID: 19606479 Free PMC article.

6

A 1q42 deletion involving DISC1, DISC2, and TSNAX in an autism spectrum disorder.

Williams JM, Beck TF, Pearson DM, Proud MB, Cheung SW, Scott DA. Williams JM, et al. Among authors: scott da. Am J Med Genet A. 2009 Aug;149A(8):1758-62. doi: 10.1002/ajmg.a.32941. Am J Med Genet A. 2009. PMID: 19606485 Free PMC article.

7

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.

Shinawi M, Liu P, Kang SH, Shen J, Belmont JW, Scott DA, Probst FJ, Craigen WJ, Graham BH, Pursley A, Clark G, Lee J, Proud M, Stocco A, Rodriguez DL, Kozel BA, Sparagana S, Roeder ER, McGrew SG, Kurczynski TW, Allison LJ, Amato S, Savage S, Patel A, Stankiewicz P, Beaudet AL, Cheung SW, Lupski JR. Shinawi M, et al. Among authors: scott da. J Med Genet. 2010 May;47(5):332-41. doi: 10.1136/jmg.2009.073015. Epub 2009 Nov 12. J Med Genet. 2010. PMID: 19914906 Free PMC article.

8

Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.

Ricks CB, Masand R, Fang P, Roney EK, Cheung SW, Scott DA. Ricks CB, et al. Among authors: scott da. Am J Med Genet A. 2010 Feb;152A(2):453-8. doi: 10.1002/ajmg.a.33227. Am J Med Genet A. 2010. PMID: 20101693

9

Severe mental retardation, seizures, and hypotonia due to deletions of MEF2C.

Nowakowska BA, Obersztyn E, Szymańska K, Bekiesińska-Figatowska M, Xia Z, Ricks CB, Bocian E, Stockton DW, Szczałuba K, Nawara M, Patel A, Scott DA, Cheung SW, Bohan TP, Stankiewicz P. Nowakowska BA, et al. Among authors: scott da. Am J Med Genet B Neuropsychiatr Genet. 2010 Jul;153B(5):1042-51. doi: 10.1002/ajmg.b.31071. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20333642

10

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Qidwai K, Pearson DM, Patel GS, Pober BR, Immken LL, Cheung SW, Scott DA. Qidwai K, et al. Among authors: scott da. Am J Med Genet A. 2010 Jun;152A(6):1588-90. doi: 10.1002/ajmg.a.33410. Am J Med Genet A. 2010. PMID: 20503342 Free PMC article. No abstract available.

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