These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 18198276)

  • 21. 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]  

  • 22. 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]  

  • 23. Residual chemosensitivity to ventilatory challenges in genotyped congenital central hypoventilation syndrome.
    Carroll MS; Patwari PP; Kenny AS; Brogadir CD; Stewart TM; Weese-Mayer DE
    J Appl Physiol (1985); 2014 Feb; 116(4):439-50. PubMed ID: 24381123
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. A novel mutation which causes a frameshift in the PHOX2B gene causes Haddad syndrome.
    Guzoglu N; Aslan MK; Gunay YD; Atasoy P; Ceylaner S; Aliefendioglu D
    Clin Dysmorphol; 2020 Jul; 29(3):152-154. PubMed ID: 32073407
    [No Abstract]   [Full Text] [Related]  

  • 26. 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]  

  • 27. Chemosensitive Phox2b-expressing neurons are crucial for hypercapnic ventilatory response in the nucleus tractus solitarius.
    Fu C; Xue J; Wang R; Chen J; Ma L; Liu Y; Wang X; Guo F; Zhang Y; Zhang X; Wang S
    J Physiol; 2017 Jul; 595(14):4973-4989. PubMed ID: 28488367
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Phox2b-expressing neurons of the parafacial region regulate breathing rate, inspiration, and expiration in conscious rats.
    Abbott SB; Stornetta RL; Coates MB; Guyenet PG
    J Neurosci; 2011 Nov; 31(45):16410-22. PubMed ID: 22072691
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. 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]  

  • 31. A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease.
    Miura Y; Watanabe T; Uchida T; Nawa T; Endo N; Fukuzawa T; Ohkubo R; Takeyama J; Sasaki A; Hayasaka K
    Eur J Med Genet; 2019 Sep; 62(9):103541. PubMed ID: 30227298
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons.
    Dubreuil V; Thoby-Brisson M; Rallu M; Persson K; Pattyn A; Birchmeier C; Brunet JF; Fortin G; Goridis C
    J Neurosci; 2009 Nov; 29(47):14836-46. PubMed ID: 19940179
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [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]  

  • 37. Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
    Di Lascio S; Benfante R; Di Zanni E; Cardani S; Adamo A; Fornasari D; Ceccherini I; Bachetti T
    Hum Mutat; 2018 Feb; 39(2):219-236. PubMed ID: 29098737
    [TBL] [Abstract][Full Text] [Related]  

  • 38. MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth.
    Blanchi B; Kelly LM; Viemari JC; Lafon I; Burnet H; Bévengut M; Tillmanns S; Daniel L; Graf T; Hilaire G; Sieweke MH
    Nat Neurosci; 2003 Oct; 6(10):1091-100. PubMed ID: 14513037
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Central chemoreception: lessons from mouse and human genetics.
    Goridis C; Brunet JF
    Respir Physiol Neurobiol; 2010 Oct; 173(3):312-21. PubMed ID: 20307691
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 17.