358 related articles for article (PubMed ID: 22440308)
1. [The congenital central hypoventilation syndrome (CCHS): a late presentation].
Lamon T; Pontier S; Têtu L; Riviere D; Didier A
Rev Mal Respir; 2012 Mar; 29(3):426-9. PubMed ID: 22440308
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 23103552
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Congenital central hypoventilation syndrome: a case report.
Crowell BA; Bissinger RL; Conway-Orgel M
Adv Neonatal Care; 2011 Jun; 11(3):167-72. PubMed ID: 21730909
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
Marion TL; Bradshaw WT
Neonatal Netw; 2011; 30(6):397-401. PubMed ID: 22052119
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Late onset congenital central hypoventilation syndrome after exposure to general anesthesia.
Mahfouz AK; Rashid M; Khan MS; Reddy P
Can J Anaesth; 2011 Dec; 58(12):1105-9. PubMed ID: 21989548
[TBL] [Abstract][Full Text] [Related]
10. Congenital central hypoventilation syndrome.
Ramanantsoa N; Gallego J
Respir Physiol Neurobiol; 2013 Nov; 189(2):272-9. PubMed ID: 23692929
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. PHOX2B mutation in a Taiwanese newborn with congenital central hypoventilation syndrome.
Wang TC; Su YN; Lai MC
Pediatr Neonatol; 2014 Feb; 55(1):68-70. PubMed ID: 23597545
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.
Hino A; Terada J; Kasai H; Shojima H; Ohgino K; Sasaki A; Hayasaka K; Tatsumi K
J Clin Sleep Med; 2020 Nov; 16(11):1891-1900. PubMed ID: 32741443
[TBL] [Abstract][Full Text] [Related]
15. Carbamazepine Improves Apneic Episodes in Congenital Central Hypoventilation Syndrome (CCHS) With a Novel
Schirwani S; Pysden K; Chetcuti P; Blyth M
J Clin Sleep Med; 2017 Nov; 13(11):1359-1362. PubMed ID: 28992836
[TBL] [Abstract][Full Text] [Related]
16. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.
Lee P; Su YN; Yu CJ; Yang PC; Wu HD
Chest; 2009 Feb; 135(2):537-544. PubMed ID: 19201717
[TBL] [Abstract][Full Text] [Related]
17. Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation.
Magalhães J; Madureira N; Medeiros R; Fernandes PC; Oufadem M; Amiel J; Estêvão MH; Reis MG
Sleep Breath; 2015 Mar; 19(1):55-60. PubMed ID: 24792884
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. [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]
[Next] [New Search]
