175 related articles for article (PubMed ID: 28422456)
1. Variable phenotype in a novel mutation in PHOX2B.
Lombardo RC; Kramer E; Cnota JF; Sawnani H; Hopkin RJ
Am J Med Genet A; 2017 Jun; 173(6):1705-1709. PubMed ID: 28422456
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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. PubMed ID: 21830319
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.
Cain JT; Kim DI; Quast M; Shivega WG; Patrick RJ; Moser C; Reuter S; Perez M; Myers A; Weimer JM; Roux KJ; Landsverk M
Am J Med Genet A; 2017 May; 173(5):1200-1207. PubMed ID: 28371199
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]