BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 17097025)

  • 1. PHOX2B mutations in three Chinese patients with congenital central hypoventilation syndrome.
    Or SF; Tong MF; Lo FM; Law CW; Miu TY; Trochet D; Lam TS
    Chin Med J (Engl); 2006 Oct; 119(20):1749-52. PubMed ID: 17097025
    [No Abstract]   [Full Text] [Related]  

  • 2. PHOX2B gene mutation in a patient with late-onset central hypoventilation.
    Trang H; Laudier B; Trochet D; Munnich A; Lyonnet S; Gaultier C; Amiel J
    Pediatr Pulmonol; 2004 Oct; 38(4):349-51. PubMed ID: 15334515
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. PHOX2B in respiratory control: lessons from congenital central hypoventilation syndrome and its mouse models.
    Amiel J; Dubreuil V; Ramanantsoa N; Fortin G; Gallego J; Brunet JF; Goridis C
    Respir Physiol Neurobiol; 2009 Aug; 168(1-2):125-32. PubMed ID: 19712905
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE; Rand CM; Berry-Kravis EM; Jennings LJ; Loghmanee DA; Patwari PP; Ceccherini I
    Pediatr Pulmonol; 2009 Jun; 44(6):521-35. PubMed ID: 19422034
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
    Cross SH; Morgan JE; Pattyn A; West K; McKie L; Hart A; Thaung C; Brunet JF; Jackson IJ
    Hum Mol Genet; 2004 Jul; 13(14):1433-9. PubMed ID: 15150159
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital central hypoventilation syndrome (CCHS) with Hirschsprung disease (Haddad syndrome): an unusual cause of reduced baseline variability of the fetal heart rate.
    Majumdar S; Wood P
    J Obstet Gynaecol; 2009 Feb; 29(2):152-3. PubMed ID: 19274556
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.
    Weese-Mayer DE; Berry-Kravis EM; Zhou L
    Am J Respir Crit Care Med; 2005 Jan; 171(1):88. PubMed ID: 15615891
    [No Abstract]   [Full Text] [Related]  

  • 11. 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]  

  • 12. Congenital central hypoventilation syndrome and the PHOX2B gene mutation.
    Marion TL; Bradshaw WT
    Neonatal Netw; 2011; 30(6):397-401. PubMed ID: 22052119
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Pediatric disorders with autonomic dysfunction: what role for PHOX2B?
    Gaultier C; Trang H; Dauger S; Gallego J
    Pediatr Res; 2005 Jul; 58(1):1-6. PubMed ID: 15901893
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Late-onset hypoventilation without PHOX2B mutation or hypothalamic abnormalities.
    D'Alessandro V; Mason T; Pallone MN; Patano J; Marcus CL
    J Clin Sleep Med; 2005 Apr; 1(2):169-72. PubMed ID: 17561633
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. [Ondine syndrome or central congenital hypoventilation syndrome].
    Trang H
    Rev Prat; 2006 Jan; 56(2):125-8. PubMed ID: 16584036
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.