Proud VK - Search Results

1

Polyhydramnios, fetal overgrowth, and macrocephaly: prenatal ultrasound findings of Costello syndrome.

Smith LP, Podraza J, Proud VK. Smith LP, et al. Among authors: proud vk. Am J Med Genet A. 2009 Feb 15;149A(4):779-84. doi: 10.1002/ajmg.a.32778. Am J Med Genet A. 2009. PMID: 19288554

2

Avoiding transmitting identified mutations to offspring using preimplantation genetic diagnosis.

Smith LP, Hughes MR, Thirumoorthi I, Proud VK, Penzias AS. Smith LP, et al. Among authors: proud vk. Obstet Gynecol. 2010 Feb;115(2 Pt 2):460-462. doi: 10.1097/AOG.0b013e3181c9b316. Obstet Gynecol. 2010. PMID: 20093880

3

Further delineation of cardiac abnormalities in Costello syndrome.

Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI Jr, Nicholson L. Lin AE, et al. Am J Med Genet. 2002 Aug 1;111(2):115-29. doi: 10.1002/ajmg.10558. Am J Med Genet. 2002. PMID: 12210337 Review.

4

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

5

Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: Proceedings from the 1st International Costello Syndrome Research Symposium 2007.

Rauen KA, Hefner E, Carrillo K, Taylor J, Messier L, Aoki Y, Gripp KW, Matsubara Y, Proud VK, Hammond P, Allanson JE, Delrue MA, Axelrad ME, Lin AE, Doyle DA, Kerr B, Carey JC, McCormick F, Silva AJ, Kieran MW, Hinek A, Nguyen TT, Schoyer L. Rauen KA, et al. Among authors: proud vk. Am J Med Genet A. 2008 May 1;146A(9):1205-17. doi: 10.1002/ajmg.a.32276. Am J Med Genet A. 2008. PMID: 18412122 No abstract available.

6

Prenatal mucolipidosis type II (I-cell disease) can present as Pacman dysplasia.

Saul RA, Proud V, Taylor HA, Leroy JG, Spranger J. Saul RA, et al. Am J Med Genet A. 2005 Jun 15;135(3):328-32. doi: 10.1002/ajmg.a.30716. Am J Med Genet A. 2005. PMID: 15887289

7

Weaver syndrome: autosomal dominant inheritance of the disorder.

Proud VK, Braddock SR, Cook L, Weaver DD. Proud VK, et al. Am J Med Genet. 1998 Oct 2;79(4):305-10. doi: 10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v. Am J Med Genet. 1998. PMID: 9781912

8

CNS malformation in a child with Kabuki (Niikawa-Kuroki) syndrome: report and review.

Chu DC, Finley SC, Young DW, Proud VK. Chu DC, et al. Among authors: proud vk. Am J Med Genet. 1997 Oct 17;72(2):205-9. Am J Med Genet. 1997. PMID: 9382144

9

Hardikar syndrome: new features.

Poley JR, Proud VK. Poley JR, et al. Among authors: proud vk. Am J Med Genet A. 2008 Oct 1;146A(19):2473-9. doi: 10.1002/ajmg.a.32266. Am J Med Genet A. 2008. PMID: 18792981

10

Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.

Surka WS, Kohlhase J, Neunert CE, Schneider DS, Proud VK. Surka WS, et al. Among authors: proud vk. Am J Med Genet. 2001 Aug 15;102(3):250-7. doi: 10.1002/1096-8628(20010815)102:3<250::aid-ajmg1479>3.0.co;2-q. Am J Med Genet. 2001. PMID: 11484202

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