361 related articles for article (PubMed ID: 17541758)
1. 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. PubMed ID: 17541758
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 22278185
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15657873
[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. 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]
6. 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]
7. New evidence of baroreflex dysfunction in congenital central hypoventilation syndrome.
van de Borne P
Clin Sci (Lond); 2005 Mar; 108(3):215-6. PubMed ID: 15634194
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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. PubMed ID: 16882781
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22821709
[TBL] [Abstract][Full Text] [Related]
11. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
Charnay AJ; Antisdel-Lomaglio JE; Zelko FA; Rand CM; Le M; Gordon SC; Vitez SF; Tse JW; Brogadir CD; Nelson MN; Berry-Kravis EM; Weese-Mayer DE
Chest; 2016 Mar; 149(3):809-15. PubMed ID: 26378991
[TBL] [Abstract][Full Text] [Related]
12. 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]
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. PubMed ID: 18798833
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.
Rand CM; Carroll MS; Weese-Mayer DE
Clin Chest Med; 2014 Sep; 35(3):535-45. PubMed ID: 25156769
[TBL] [Abstract][Full Text] [Related]
16. Adult With
Kasi AS; Kun SS; Keens TG; Perez IA
J Clin Sleep Med; 2018 Dec; 14(12):2079-2081. PubMed ID: 30518452
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. [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]
20. Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease.
Paglietti MG; Cherchi C; Porcaro F; Agolini E; Schiavino A; Petreschi F; Novelli A; Cutrera R
Ital J Pediatr; 2019 Apr; 45(1):49. PubMed ID: 30999961
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
