402 related articles for article (PubMed ID: 27485184)
1. 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]
2. 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]
3. 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]
4. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
Katwa U; D'Gama AM; Qualls AE; Donovan LM; Heffernan J; Shi J; Agrawal PB
Am J Med Genet A; 2018 Jul; 176(7):1627-1631. PubMed ID: 29704303
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [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]
7. 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]
8. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
Pace NP; Pace Bardon M; Borg I
Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel
Kasi AS; Jurgensen TJ; Yen S; Kun SS; Keens TG; Perez IA
J Clin Sleep Med; 2017 Jul; 13(7):925-927. PubMed ID: 28633714
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
Meylemans A; Depuydt P; De Baere E; Hertegonne K; Derom E; Dermaut B; Hemelsoet D
Acta Neurol Belg; 2021 Feb; 121(1):23-35. PubMed ID: 32335870
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H
J Clin Sleep Med; 2014 Mar; 10(3):327-9. PubMed ID: 24634632
[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]
