Proud VK - Search Results

1

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

2

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

3

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

4

Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH. Tompson SW, et al. Among authors: proud vk. Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28. Am J Hum Genet. 2010. PMID: 21035103 Free PMC article.

5

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.

6

Family study of the inheritance of pectus excavatum.

Creswick HA, Stacey MW, Kelly RE Jr, Gustin T, Nuss D, Harvey H, Goretsky MJ, Vasser E, Welch JC, Mitchell K, Proud VK. Creswick HA, et al. Among authors: proud vk. J Pediatr Surg. 2006 Oct;41(10):1699-703. doi: 10.1016/j.jpedsurg.2006.05.071. J Pediatr Surg. 2006. PMID: 17011272

7

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.

8

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

9

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

10

Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III).

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, Chisholm E, Zackai EH, Lee BH, Edelmann L, Desnick RJ. Weaver DD, et al. Among authors: proud vk. Am J Med Genet A. 2015 May;167A(5):1061-70. doi: 10.1002/ajmg.a.36973. Epub 2015 Feb 27. Am J Med Genet A. 2015. PMID: 25728400

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