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Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO, Bochukova EG, Hansen RM, Taylor IB, Rannan-Eliya SV, Byren JC, Wall SA, Ramos L, Venâncio M, Hurst JA, O'Rourke AW, Williams LJ, Seller A, Lester T. Wilkie AO, et al. Am J Med Genet A. 2006 Dec 1;140(23):2631-9. doi: 10.1002/ajmg.a.31366. Am J Med Genet A. 2006. PMID: 16838304 Review.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Koolen DA, et al. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. J Med Genet. 2008. PMID: 18628315 Free PMC article.
Craniosynostosis.
Johnson D, Wilkie AO. Johnson D, et al. Eur J Hum Genet. 2011 Apr;19(4):369-76. doi: 10.1038/ejhg.2010.235. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248745 Free PMC article.
245 results