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Items: 9

1.

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schöber JG, Ravazzolo R, Ottonello G, Ceccherini I.

J Med Genet. 2004 May;41(5):373-80. No abstract available.

2.

In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.

Weese-Mayer DE, Berry-Kravis EM, Marazita ML.

Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.

PMID:
16054879
3.

Congenital central hypoventilation syndrome and the PHOX2B gene mutation.

Marion TL, Bradshaw WT.

Neonatal Netw. 2011 Nov-Dec;30(6):397-401. doi: 10.1891/0730-0832.30.6.397. Review.

PMID:
22052119
4.

Congenital central hypoventilation syndrome.

Ramanantsoa N, Gallego J.

Respir Physiol Neurobiol. 2013 Nov 1;189(2):272-9. doi: 10.1016/j.resp.2013.05.018. Epub 2013 May 18. Review.

PMID:
23692929
5.

[Congenital central hypoventilation syndrome: paradigm shifts and future prospects].

Hayasaka K, Sasaki A.

Nihon Rinsho. 2014 Feb;72(2):363-70. Review. Japanese.

PMID:
24605541
6.

Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.

Rand CM, Carroll MS, Weese-Mayer DE.

Clin Chest Med. 2014 Sep;35(3):535-45. doi: 10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26. Review.

PMID:
25156769
7.

Congenital central hypoventilation syndrome and sudden infant death syndrome: disorders of autonomic regulation.

Rand CM, Patwari PP, Carroll MS, Weese-Mayer DE.

Semin Pediatr Neurol. 2013 Mar;20(1):44-55. doi: 10.1016/j.spen.2013.01.005. Review.

PMID:
23465774
8.

Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.

Grigg-Damberger M, Wells A.

Semin Respir Crit Care Med. 2009 Jun;30(3):262-74. doi: 10.1055/s-0029-1222440. Epub 2009 May 18. Review.

PMID:
19452387
9.

Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.

Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.

PMID:
18579454

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