Proud VK - Search Results

1

Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum.

Stacey MW, Neumann SA, Dooley A, Segna K, Kelly RE, Nuss D, Kuhn AM, Goretsky MJ, Fecteau AH, Pastor A, Proud VK. Stacey MW, et al. Among authors: proud vk. Clin Genet. 2010 Nov;78(5):502-4. doi: 10.1111/j.1399-0004.2010.01492.x. Clin Genet. 2010. PMID: 21039430 No abstract available.

2

Classification of the dysmorphology of pectus excavatum.

Cartoski MJ, Nuss D, Goretsky MJ, Proud VK, Croitoru DP, Gustin T, Mitchell K, Vasser E, Kelly RE Jr. Cartoski MJ, et al. Among authors: proud vk. J Pediatr Surg. 2006 Sep;41(9):1573-81. doi: 10.1016/j.jpedsurg.2006.05.055. J Pediatr Surg. 2006. PMID: 16952594

3

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

4

Advancing our understanding of the inheritance and transmission of pectus excavatum.

Horth L, Stacey MW, Proud VK, Segna K, Rutherford C, Nuss D, Kelly RE. Horth L, et al. Among authors: proud vk. J Pediatr Genet. 2012 Sep;1(3):161-73. doi: 10.3233/PGE-2012-026. J Pediatr Genet. 2012. PMID: 27625818 Free PMC article.

5

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

6

Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.

Miller SF, Proud VK, Werner AL, Field FM, Wilcox WF, Lachman RS, Rimoin DL. Miller SF, et al. Among authors: proud vk. Pediatr Radiol. 2003 Apr;33(4):256-60. doi: 10.1007/s00247-002-0859-4. Epub 2003 Feb 5. Pediatr Radiol. 2003. PMID: 12709756

7

Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses.

Wold SM, Derkay CS, Darrow DH, Proud V. Wold SM, et al. Int J Pediatr Otorhinolaryngol. 2010 Jan;74(1):27-31. doi: 10.1016/j.ijporl.2009.09.042. Epub 2009 Nov 20. Int J Pediatr Otorhinolaryngol. 2010. PMID: 19931921

8

Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.

Vissers LE, Stankiewicz P, Yatsenko SA, Crawford E, Creswick H, Proud VK, de Vries BB, Pfundt R, Marcelis CL, Zackowski J, Bi W, van Kessel AG, Lupski JR, Veltman JA. Vissers LE, et al. Among authors: proud vk. Hum Genet. 2007 Jul;121(6):697-709. doi: 10.1007/s00439-007-0359-6. Epub 2007 Apr 25. Hum Genet. 2007. PMID: 17457615 Free PMC article.

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

Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.

Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N; Care4Rare Consortium; Saunders C, Boycott KM, Thiffault I. Kernohan KD, et al. Hum Mutat. 2017 May;38(5):511-516. doi: 10.1002/humu.23196. Epub 2017 Mar 6. Hum Mutat. 2017. PMID: 28185376

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

47 results

Search Page