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Items: 1 to 20 of 73

1.

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.

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.

PMID:
22821709
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.

PMID:
22278185
4.

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.

PMID:
21830319
5.

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.

PMID:
21336852
6.

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
7.

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. Review.

8.

Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel.

Straus C, Trang H, Becquemin MH, Touraine P, Similowski T.

Respir Physiol Neurobiol. 2010 Apr 30;171(2):171-4. doi: 10.1016/j.resp.2010.03.015.

PMID:
20303419
9.

Congenital Central Hypoventilation Syndrome.

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

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2004 Jan 28 [updated 2014 Jan 30].

10.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee..

Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.

PMID:
20208042
11.

Carbon dioxide chemoreception and hypoventilation syndromes with autonomic dysregulation.

Carroll MS, Patwari PP, Weese-Mayer DE.

J Appl Physiol (1985). 2010 Apr;108(4):979-88. doi: 10.1152/japplphysiol.00004.2010. Review.

12.

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
13.

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.

PMID:
18798833
14.

Endocrine manifestations of the rapid-onset obesity with hypoventilation, hypothalamic, autonomic dysregulation, and neural tumor syndrome in childhood.

Bougnères P, Pantalone L, Linglart A, Rothenbühler A, Le Stunff C.

J Clin Endocrinol Metab. 2008 Oct;93(10):3971-80. doi: 10.1210/jc.2008-0238.

PMID:
18628522
15.

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
16.

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood.

Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE.

Pediatrics. 2007 Jul;120(1):e179-88.

PMID:
17606542
17.

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
18.

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.

PMID:
16888290
19.

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
20.

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.

PMID:
16873766

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