BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

307 related articles for article (PubMed ID: 21051998)

  • 21. Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion.
    Arai H; Otagiri T; Sasaki A; Umetsu K; Hayasaka K
    J Hum Genet; 2010 Jan; 55(1):4-7. PubMed ID: 19881470
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [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]  

  • 23. 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]  

  • 24. [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]  

  • 25. 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]  

  • 26. [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]  

  • 27. 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]  

  • 28. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.
    Parodi S; Bachetti T; Lantieri F; Di Duca M; Santamaria G; Ottonello G; Matera I; Ravazzolo R; Ceccherini I
    Hum Mutat; 2008 Jan; 29(1):206. PubMed ID: 18157832
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse).
    Trochet D; de Pontual L; Estêvao MH; Mathieu Y; Munnich A; Feingold J; Goridis C; Lyonnet S; Amiel J
    Hum Mutat; 2008 May; 29(5):770. PubMed ID: 18407552
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant.
    Kaymakçi A; Narter F; Yazar AS; Yilmaz MS
    Turk J Pediatr; 2012; 54(5):519-22. PubMed ID: 23427517
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. 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]  

  • 38. Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.
    Grigg-Damberger M; Wells A
    Semin Respir Crit Care Med; 2009 Jun; 30(3):262-74. PubMed ID: 19452387
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?
    Wo LL; Itani R; Keens TG; Marachelian A; Ji J; Perez IA
    J Clin Sleep Med; 2023 Jun; 19(6):1161-1164. PubMed ID: 36798979
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 16.