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Items: 1 to 20 of 160

1.

Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome.

Meguro T, Yoshida Y, Hayashi M, Toyota K, Otagiri T, Mochizuki N, Kishikawa Y, Sasaki A, Hayasaka K.

J Hum Genet. 2012 May;57(5):335-7. doi: 10.1038/jhg.2012.27. Epub 2012 Mar 22.

PMID:
22437207
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
3.

Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.

Arai H, Otagiri T, Sasaki A, Umetsu K, Hayasaka K.

J Hum Genet. 2010 Jan;55(1):4-7. doi: 10.1038/jhg.2009.109. Epub 2009 Oct 30.

PMID:
19881470
4.

Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR.

Clin Genet. 2010 Sep;78(3):289-93. doi: 10.1111/j.1399-0004.2010.01383.x. Epub 2010 Feb 11.

PMID:
20236122
5.

Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism.

Bachetti T, Di Duca M, Della Monica M, Grappone L, Scarano G, Ceccherini I.

Pediatr Pulmonol. 2014 Mar;49(3):E45-7. doi: 10.1002/ppul.22790. Epub 2013 Mar 4.

PMID:
23460545
6.

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
7.

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
8.

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].

9.

Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I.

Hum Mutat. 2008 Jan;29(1):206.

PMID:
18157832
10.

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

Bachetti T, Parodi S, Di Duca M, Santamaria G, Ravazzolo R, Ceccherini I.

J Mol Med (Berl). 2011 May;89(5):505-13. doi: 10.1007/s00109-010-0718-y. Epub 2011 Feb 19.

PMID:
21336852
11.

Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.

Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.

Diagn Mol Pathol. 2010 Dec;19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff.

PMID:
21051998
12.

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
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
14.

De novo polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: unequal sister chromatid exchange during paternal gametogenesis.

Arai H, Otagiri T, Sasaki A, Hashimoto T, Umetsu K, Tokunaga K, Hayasaka K.

J Hum Genet. 2007;52(11):921-5. Epub 2007 Oct 11.

PMID:
17928950
15.

Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents.

Hammel M, Klein M, Trips T, Priessmann H, Ankermann T, Holzinger A.

Klin Padiatr. 2009 Sep;221(5):286-9. doi: 10.1055/s-0029-1220941. Epub 2009 Aug 25.

PMID:
19707990
16.

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J.

Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11. Epub 2007 Dec 13.

PMID:
18079495
17.

[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
18.

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
19.

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.

20.

A commentary on the importance of knowing from whence your PHOX2B mutation comes.

Rand CM, Weese-Mayer DE.

J Hum Genet. 2012 Jun;57(6):345-6. doi: 10.1038/jhg.2012.44. Epub 2012 May 3. No abstract available.

PMID:
22551899
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