BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

276 related articles for article (PubMed ID: 18407552)

  • 21. Sinus vein thrombosis as presenting finding in the congenital central hypoventilation syndrome: an insight on the pathophysiology of the association.
    Joseph L; Goldberg S; Shahroor S; Gomori M; Mimouni FB; Picard E
    Pediatr Pulmonol; 2011 Aug; 46(8):826-8. PubMed ID: 21465679
    [TBL] [Abstract][Full Text] [Related]  

  • 22. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
    Trochet D; de Pontual L; Straus C; Gozal D; Trang H; Landrieu P; Munnich A; Lyonnet S; Gaultier C; Amiel J
    Am J Respir Crit Care Med; 2008 Apr; 177(8):906-11. PubMed ID: 18079495
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
    Amiel J; Laudier B; Attié-Bitach T; Trang H; de Pontual L; Gener B; Trochet D; Etchevers H; Ray P; Simonneau M; Vekemans M; Munnich A; Gaultier C; Lyonnet S
    Nat Genet; 2003 Apr; 33(4):459-61. PubMed ID: 12640453
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. [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]  

  • 26. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome.
    Weese-Mayer DE; Berry-Kravis EM; Marazita ML
    Respir Physiol Neurobiol; 2005 Nov; 149(1-3):73-82. PubMed ID: 16054879
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE.
    Hung CC; Su YN; Tsao PN; Chen PC; Lin SJ; Lin CH; Mu SC; Liu CA; Chang YC; Lin WL; Hsieh WS; Hsu SM
    Electrophoresis; 2007 Mar; 28(6):894-9. PubMed ID: 17300129
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation.
    Ou-Yang MC; Yang SN; Hsu YM; Ou-Yang MH; Haung HC; Lee SY; Hsieh WS; Su YN; Liu CA
    J Pediatr Surg; 2007 Feb; 42(2):e9-11. PubMed ID: 17270534
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. [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]  

  • 31. 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]  

  • 32. 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]  

  • 33. [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]  

  • 34. Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents.
    Hammel M; Klein M; Trips T; Priessmann H; Ankermann T; Holzinger A
    Klin Padiatr; 2009 Sep; 221(5):286-9. PubMed ID: 19707990
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A Novel c.676_677insG
    Ye G; Han D; Jiang Y; Wang Z; Zhou Y; Lin X; Chen W; Chen M; Xu J; Yang Y; Guo Q
    J Clin Sleep Med; 2019 Mar; 15(3):509-513. PubMed ID: 30853048
    [No Abstract]   [Full Text] [Related]  

  • 37. Genetics and early disturbances of breathing control.
    Gaultier C; Amiel J; Dauger S; Trang H; Lyonnet S; Gallego J; Simonneau M
    Pediatr Res; 2004 May; 55(5):729-33. PubMed ID: 14739359
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Late-onset central hypoventilation syndrome: a family genetic study.
    Doherty LS; Kiely JL; Deegan PC; Nolan G; McCabe S; Green AJ; Ennis S; McNicholas WT
    Eur Respir J; 2007 Feb; 29(2):312-6. PubMed ID: 17264323
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 14.