425 related articles for article (PubMed ID: 18798833)
1. 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. PubMed ID: 18798833
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 17300129
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 23460419
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 23103552
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19422034
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 22278185
[TBL] [Abstract][Full Text] [Related]
7. 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; 149(1-3):73-82. PubMed ID: 16054879
[TBL] [Abstract][Full Text] [Related]
8. 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; 174(8):923-7. PubMed ID: 16873766
[TBL] [Abstract][Full Text] [Related]
9. Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene.
Klaskova E; Drabek J; Hobzova M; Smolka V; Seda M; Hyjanek J; Slavkovsky R; Stranska J; Prochazka M
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2016 Dec; 160(4):495-498. PubMed ID: 27485184
[TBL] [Abstract][Full Text] [Related]
10. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
Lai D; Schroer B
J Child Neurol; 2008 Mar; 23(3):341-3. PubMed ID: 18230845
[TBL] [Abstract][Full Text] [Related]
11. 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; 123A(3):267-78. PubMed ID: 14608649
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 21051998
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 19881470
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 18041756
[TBL] [Abstract][Full Text] [Related]
15. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
Cross SH; Morgan JE; Pattyn A; West K; McKie L; Hart A; Thaung C; Brunet JF; Jackson IJ
Hum Mol Genet; 2004 Jul; 13(14):1433-9. PubMed ID: 15150159
[TBL] [Abstract][Full Text] [Related]
16. Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.
Grigg-Damberger M; Wells A
Semin Respir Crit Care Med; 2009 Jun; 30(3):262-74. PubMed ID: 19452387
[TBL] [Abstract][Full Text] [Related]
17. 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; 174(10):1139-44. PubMed ID: 16888290
[TBL] [Abstract][Full Text] [Related]
18. [Congenital central hypoventilation syndrome: analysis of PHOX2B gene mutation in a case].
Yan Y; Yi B; Liu D; Zhao F; Zhang C; Chen X; Hao S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2015 Oct; 32(5):665-9. PubMed ID: 26418987
[TBL] [Abstract][Full Text] [Related]
19. 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; 177(8):906-11. PubMed ID: 18079495
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 19584633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
