Sutton VR - Search Results

1

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.

Liu P, Erez A, Nagamani SC, Bi W, Carvalho CM, Simmons AD, Wiszniewska J, Fang P, Eng PA, Cooper ML, Sutton VR, Roeder ER, Bodensteiner JB, Delgado MR, Prakash SK, Belmont JW, Stankiewicz P, Berg JS, Shinawi M, Patel A, Cheung SW, Lupski JR. Liu P, et al. Among authors: sutton vr. Hum Mol Genet. 2011 May 15;20(10):1975-88. doi: 10.1093/hmg/ddr078. Epub 2011 Feb 25. Hum Mol Genet. 2011. PMID: 21355048 Free PMC article.

2

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG. Shapira SK, et al. Among authors: sutton vr. Am J Hum Genet. 1997 Sep;61(3):642-50. doi: 10.1086/515520. Am J Hum Genet. 1997. PMID: 9326330 Free PMC article.

3

Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.

Wu YQ, Sutton VR, Nickerson E, Lupski JR, Potocki L, Korenberg JR, Greenberg F, Tassabehji M, Shaffer LG. Wu YQ, et al. Among authors: sutton vr. Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k. Am J Med Genet. 1998. PMID: 9637430

4

Search for imprinted regions on chromosome 14: comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion.

Sutton VR, Shaffer LG. Sutton VR, et al. Am J Med Genet. 2000 Aug 28;93(5):381-7. doi: 10.1002/1096-8628(20000828)93:5<381::aid-ajmg7>3.0.co;2-9. Am J Med Genet. 2000. PMID: 10951461 Review.

5

Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).

Sutton VR, McAlister WH, Bertin TK, Kaffe S, Wang JC, Yano S, Shaffer LG, Lee B, Epstein CJ, Villar AJ. Sutton VR, et al. Hum Genet. 2003 Oct;113(5):447-51. doi: 10.1007/s00439-003-0981-x. Epub 2003 Aug 21. Hum Genet. 2003. PMID: 12938037

6

Ethical and legal implications of genetic testing in androgen insensitivity syndrome.

Berg JS, French SL, McCullough LB, Kleppe S, Sutton VR, Gunn SK, Karaviti LP. Berg JS, et al. Among authors: sutton vr. J Pediatr. 2007 Apr;150(4):434-8. doi: 10.1016/j.jpeds.2006.12.037. J Pediatr. 2007. PMID: 17382127 No abstract available.

7

Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.

Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL. Probst FJ, et al. Among authors: sutton vr. Am J Med Genet A. 2007 Jun 15;143A(12):1358-65. doi: 10.1002/ajmg.a.31781. Am J Med Genet A. 2007. PMID: 17506108

8

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: sutton vr. 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

9

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. Ben-Shachar S, et al. Among authors: sutton vr. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 Free PMC article.

10

Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome.

Shchelochkov OA, Patel A, Weissenberger GM, Chinault AC, Wiszniewska J, Fernandes PH, Eng C, Kukolich MK, Sutton VR. Shchelochkov OA, et al. Among authors: sutton vr. Am J Med Genet A. 2008 Apr 15;146A(8):1042-8. doi: 10.1002/ajmg.a.32215. Am J Med Genet A. 2008. PMID: 18348260

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