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Results: 1 to 20 of 132

1.

Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.

Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE.

Pediatr Res. 2006 Jan;59(1):39-45. Epub 2005 Dec 2.

PMID:
16327002
[PubMed - indexed for MEDLINE]
2.

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]
3.

Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.

Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML.

Pediatrics. 2006 Aug;118(2):e408-14.

PMID:
16882781
[PubMed - indexed for MEDLINE]
Free Article
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.

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]
6.

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]
7.

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]
8.

Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.

Diedrich A, Malow BA, Antic NA, Sato K, McEvoy RD, Mathias CJ, Robertson D, Berry-Kravis EM, Weese-Mayer DE.

Clin Auton Res. 2007 Jun;17(3):177-85. Epub 2007 May 31.

PMID:
17541758
[PubMed - indexed for MEDLINE]
9.

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
10.

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.

Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE.

Am J Respir Crit Care Med. 2006 Oct 15;174(8):923-7. Epub 2006 Jul 27.

PMID:
16873766
[PubMed - indexed for MEDLINE]
11.

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]
12.

Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.

Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.

Pediatr Pulmonol. 2008 Jan;43(1):77-86.

PMID:
18041756
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
14.

Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome.

Bachetti T, Robbiano A, Parodi S, Matera I, Merello E, Capra V, Baglietto MP, Rossi A, Ceccherini I, Ottonello G.

Am J Respir Crit Care Med. 2006 Sep 15;174(6):706-9. Epub 2006 Jun 8.

PMID:
16763219
[PubMed - indexed for MEDLINE]
15.

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]
16.

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]
17.

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
[PubMed - indexed for MEDLINE]
18.

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]
19.

Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.

Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.

Pediatr Pulmonol. 2010 Jan;45(1):92-8. doi: 10.1002/ppul.21170.

PMID:
19960523
[PubMed - indexed for MEDLINE]
20.

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]

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