BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

287 related articles for article (PubMed ID: 21830319)

  • 1. 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]  

  • 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. 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]  

  • 4. 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]  

  • 5. Causative and common PHOX2B variants define a broad phenotypic spectrum.
    Bachetti T; Ceccherini I
    Clin Genet; 2020 Jan; 97(1):103-113. PubMed ID: 31444792
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Haddad syndrome with PHOX2B gene mutation in a Korean infant.
    Lee CW; Lee JH; Jung EY; Choi SO; Kim CS; Lee SL; Kim DK
    J Korean Med Sci; 2011 Feb; 26(2):312-5. PubMed ID: 21286029
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
    Sivan Y; Zhou A; Jennings LJ; Berry-Kravis EM; Yu M; Zhou L; Rand CM; Weese-Mayer DE
    Am J Med Genet A; 2019 Mar; 179(3):503-506. PubMed ID: 30672101
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature.
    Kwon MJ; Lee GH; Lee MK; Kim JY; Yoo HS; Ki CS; Chang YS; Kim JW; Park WS
    Eur J Pediatr; 2011 Oct; 170(10):1267-71. PubMed ID: 21373876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. [Congenital central hypoventilation syndrome, report of three cases].
    Wang Y; He XY; Yang Y; Chen XC
    Zhonghua Er Ke Za Zhi; 2013 Nov; 51(11):852-5. PubMed ID: 24484562
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.
    Khorasanian R; Mojbafan M; Khosravi N
    Mol Biol Rep; 2021 Dec; 48(12):8239-8243. PubMed ID: 34626313
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Oncologic Phenotype of Peripheral Neuroblastic Tumors Associated With PHOX2B Non-Polyalanine Repeat Expansion Mutations.
    Heide S; Masliah-Planchon J; Isidor B; Guimier A; Bodet D; Coze C; Deville A; Thebault E; Pasquier CJ; Cassagnau E; Pierron G; Clément N; Schleiermacher G; Amiel J; Delattre O; Peuchmaur M; Bourdeaut F
    Pediatr Blood Cancer; 2016 Jan; 63(1):71-7. PubMed ID: 26375764
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.