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Results: 1 to 20 of 108

1.

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.

PMID:
24634632
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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.

Acta Paediatr. 2009 Jan;98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16.

PMID:
18798833
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.

Chen LR, Tsao PN, Su YN, Fan PC, Chou HC, Chen CY, Chang YH, Hsieh WS.

J Formos Med Assoc. 2007 Jan;106(1):69-73.

PMID:
17282973
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

A case of congenital central hypoventilation syndrome with PHOX2B gene mutation in a Korean neonate.

Kwon KA, Park SE, Byun SY, Kim SY, Hwang SH.

J Korean Med Sci. 2010 Aug;25(8):1237-40. doi: 10.3346/jkms.2010.25.8.1237. Epub 2010 Jul 20.

PMID:
20676341
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Congenital Central Hypoventilation Syndrome.

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

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2004 Jan 28 [updated 2014 Jan 30].

11.

[The congenital central hypoventilation syndrome (CCHS): a late presentation].

Lamon T, Pontier S, Têtu L, Riviere D, Didier A.

Rev Mal Respir. 2012 Mar;29(3):426-9. doi: 10.1016/j.rmr.2011.09.047. Epub 2012 Feb 15. French.

PMID:
22440308
[PubMed - indexed for MEDLINE]
12.

Variable human phenotype associated with novel deletions of the PHOX2B gene.

Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE.

Pediatr Pulmonol. 2012 Feb;47(2):153-61. doi: 10.1002/ppul.21527. Epub 2011 Aug 9.

PMID:
21830319
[PubMed - indexed for MEDLINE]
13.

Heterozygous 24-polyalanine repeats in the PHOX2B gene with different manifestations across three generations.

Chuen-im P, Marwan S, Carter J, Kemp J, Rivera-Spoljaric K.

Pediatr Pulmonol. 2014 Feb;49(2):E13-6. doi: 10.1002/ppul.22731. Epub 2013 Mar 4.

PMID:
23460419
[PubMed - indexed for MEDLINE]
14.

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.

Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. Epub 2006 Aug 3.

PMID:
16888290
[PubMed - indexed for MEDLINE]
15.

[Congenital central hypoventilation syndrome, report of three cases].

Wang Y, He XY, Yang Y, Chen XC.

Zhonghua Er Ke Za Zhi. 2013 Nov;51(11):852-5. Chinese.

PMID:
24484562
[PubMed - indexed for MEDLINE]
16.

Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.

Hennewig U, Hadzik B, Vogel M, Meissner T, Goecke T, Peters H, Selzer G, Mayatepek E, Hoehn T.

J Hum Genet. 2008;53(6):573-7. doi: 10.1007/s10038-008-0275-1. Epub 2008 Mar 14.

PMID:
18340402
[PubMed - indexed for MEDLINE]
17.

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.

PMID:
23597545
[PubMed - in process]
18.

PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.

Lee P, Su YN, Yu CJ, Yang PC, Wu HD.

Chest. 2009 Feb;135(2):537-44. doi: 10.1378/chest.08-1664.

PMID:
19201717
[PubMed - indexed for MEDLINE]
19.

Haddad syndrome with PHOX2B gene mutation in a Korean infant.

Lee CW, Lee JH, Jung EY, Choi SO, Kim CS, Lee SL, Kim DK.

J Korean Med Sci. 2011 Feb;26(2):312-5. doi: 10.3346/jkms.2011.26.2.312. Epub 2011 Jan 24.

PMID:
21286029
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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].

PMID:
15657873
[PubMed - indexed for MEDLINE]
Free PMC Article

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