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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.
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.
Bifid epiglottis and polydactyly: a new genetic syndrome.
McClay JE, Wiatrak B, Proud VK. McClay JE, et al. Among authors: proud vk. Otolaryngol Head Neck Surg. 1997 Jan;116(1):129-33. doi: 10.1016/S0194-59989770365-6. Otolaryngol Head Neck Surg. 1997. PMID: 9018273 No abstract available.
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8.
Toydemir RM, Chen H, Proud VK, Martin R, van Bokhoven H, Hamel BC, Tuerlings JH, Stratakis CA, Jorde LB, Bamshad MJ. Toydemir RM, et al. Among authors: proud vk. Am J Med Genet A. 2006 Nov 15;140(22):2387-93. doi: 10.1002/ajmg.a.31495. Am J Med Genet A. 2006. PMID: 17041932
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.
48 results