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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Rand CM, et al. Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821709
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee. Weese-Mayer DE, et al. Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST. Am J Respir Crit Care Med. 2010. PMID: 20208042
Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Repetto GM, et al. Acta Paediatr. 2009 Jan;98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16. Acta Paediatr. 2009. PMID: 18798833
Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
Diedrich A, Malow BA, Antic NA, Sato K, McEvoy RD, Mathias CJ, Robertson D, Berry-Kravis EM, Weese-Mayer DE. Diedrich A, et al. Clin Auton Res. 2007 Jun;17(3):177-85. doi: 10.1007/s10286-007-0421-4. Epub 2007 May 31. Clin Auton Res. 2007. PMID: 17541758
PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. Antic NA, et al. Am J Respir Crit Care Med. 2006 Oct 15;174(8):923-7. doi: 10.1164/rccm.200605-607CR. Epub 2006 Jul 27. Am J Respir Crit Care Med. 2006. PMID: 16873766
In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
Weese-Mayer DE, Berry-Kravis EM, Marazita ML. Weese-Mayer DE, et al. Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. doi: 10.1016/j.resp.2005.06.010. Epub 2005 Jul 28. Respir Physiol Neurobiol. 2005. PMID: 16054879 Review.
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