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Items: 1 to 20 of 180

1.

Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.

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

Respir Physiol Neurobiol. 2010 Oct 31;173(3):322-35. doi: 10.1016/j.resp.2010.06.013. Epub 2010 Jun 30. Review.

2.

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
3.

Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.

Patwari PP, Stewart TM, Rand CM, Carroll MS, Kuntz NL, Kenny AS, Brogadir CD, Weese-Mayer DE.

Pediatr Res. 2012 Mar;71(3):280-5. doi: 10.1038/pr.2011.38. Epub 2012 Jan 25.

PMID:
22278185
4.

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
5.

Respiratory and autonomic dysfunction in congenital central hypoventilation syndrome.

Moreira TS, Takakura AC, Czeisler C, Otero JJ.

J Neurophysiol. 2016 Aug 1;116(2):742-52. doi: 10.1152/jn.00026.2016. Epub 2016 May 25. Review.

6.

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
7.

Peripheral chemoreceptors in congenital central hypoventilation syndrome.

Perez IA, Keens TG.

Respir Physiol Neurobiol. 2013 Jan 1;185(1):186-93. doi: 10.1016/j.resp.2012.10.008. Epub 2012 Oct 23. Review.

PMID:
23099221
8.

A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation.

Trobliger R, Zaroff CM, Grayson RH, Higgins JJ.

Child Neuropsychol. 2010;16(2):202-8. doi: 10.1080/09297040903266897.

PMID:
19813116
9.

Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.

Pediatr Pulmonol. 2009 Jun;44(6):521-35. doi: 10.1002/ppul.21045. Review.

PMID:
19422034
10.

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
11.

PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.

Wang TC, Su YN, Lai MC.

Pediatr Neonatol. 2014 Feb;55(1):68-70. doi: 10.1016/j.pedneo.2012.12.003. Epub 2013 Jan 20.

12.

Hyperthyroidism hidden by congenital central hypoventilation syndrome.

Fox DA, Weese-Mayer DE, Wensley DF, Stewart LL.

J Pediatr Endocrinol Metab. 2015 May;28(5-6):705-8. doi: 10.1515/jpem-2014-0174.

PMID:
25581741
13.

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.

Am J Med Genet A. 2012 Sep;158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20.

PMID:
22821709
14.

A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.

Amimoto Y, Okada K, Nakano H, Sasaki A, Hayasaka K, Odajima H.

J Clin Sleep Med. 2014 Mar 15;10(3):327-9. doi: 10.5664/jcsm.3542.

15.

Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.

Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DE.

J Appl Physiol (1985). 2014 Feb 15;116(4):439-50. doi: 10.1152/japplphysiol.01310.2013. Epub 2013 Dec 31.

16.

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
17.

Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome.

Di Lascio S, Bachetti T, Saba E, Ceccherini I, Benfante R, Fornasari D.

Neurobiol Dis. 2013 Feb;50:187-200. doi: 10.1016/j.nbd.2012.10.019. Epub 2012 Oct 25.

PMID:
23103552
18.

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjöld A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet S, Amiel J.

Am J Hum Genet. 2005 Mar;76(3):421-6. Epub 2005 Jan 18. Erratum in: Am J Hum Genet. 2005 Apr;76(4):715. Niemann, Stephan [added].

19.

Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.

Trang H, Masri Zada T, Heraut F.

BMC Neurol. 2015 Mar 22;15:41. doi: 10.1186/s12883-015-0299-z.

20.

Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML.

Am J Med Genet A. 2003 Dec 15;123A(3):267-78.

PMID:
14608649

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