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Results: 1 to 20 of 105

1.

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 - in process]
2.

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]
3.

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]
4.

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]
5.

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]
6.

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].

PMID:
20301600
[PubMed]
Books & Documents
7.

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]
8.

Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.

Hung CC, Su YN, Tsao PN, Chen PC, Lin SJ, Lin CH, Mu SC, Liu CA, Chang YC, Lin WL, Hsieh WS, Hsu SM.

Electrophoresis. 2007 Mar;28(6):894-9.

PMID:
17300129
[PubMed - indexed for MEDLINE]
9.

Congenital central hypoventilation syndrome with PHOX2B gene mutation.

Lingappa L, Panigrahi NK, Chirla DK, Burton-Jones S, Williams MM.

Indian J Pediatr. 2012 Nov;79(11):1526-8. doi: 10.1007/s12098-012-0789-6. Epub 2012 Jun 7.

PMID:
22674249
[PubMed - indexed for MEDLINE]
10.

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]
11.

Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.

Al Rashdi I, Al Ghafri M, Al Hanshi S, Al Macki N.

Oman Med J. 2011 Sep;26(5):356-8. doi: 10.5001/omj.2011.87.

PMID:
22125732
[PubMed]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

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]
14.

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S.

Nat Genet. 2003 Apr;33(4):459-61. Epub 2003 Mar 17.

PMID:
12640453
[PubMed - indexed for MEDLINE]
15.

PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.

Kwon MJ, Lee GH, Lee MK, Kim JY, Yoo HS, Ki CS, Chang YS, Kim JW, Park WS.

Eur J Pediatr. 2011 Oct;170(10):1267-71. doi: 10.1007/s00431-011-1434-5. Epub 2011 Mar 4.

PMID:
21373876
[PubMed - indexed for MEDLINE]
16.

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
17.

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 - in process]
18.

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]
19.

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
[PubMed - indexed for MEDLINE]
20.

Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence.

Fine-Goulden MR, Manna S, Durward A.

Pediatr Crit Care Med. 2009 Jul;10(4):e41-2. doi: 10.1097/PCC.0b013e318198b219.

PMID:
19584633
[PubMed - indexed for MEDLINE]

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