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 *

126 related articles for article (PubMed ID: 33881351)

  • 21. 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]  

  • 22. Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.
    Di Zanni E; Adamo A; Belligni E; Lerone M; Martucciello G; Mattioli G; Pini Prato A; Ravazzolo R; Silengo M; Bachetti T; Ceccherini I
    Biochim Biophys Acta Mol Basis Dis; 2017 Jul; 1863(7):1770-1777. PubMed ID: 28433712
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Pupillometry in congenital central hypoventilation syndrome (CCHS): quantitative evidence of autonomic nervous system dysregulation.
    Patwari PP; Stewart TM; Rand CM; Carroll MS; Kuntz NL; Kenny AS; Brogadir CD; Weese-Mayer DE
    Pediatr Res; 2012 Mar; 71(3):280-5. PubMed ID: 22278185
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.
    Bachetti T; Matera I; Borghini S; Di Duca M; Ravazzolo R; Ceccherini I
    Hum Mol Genet; 2005 Jul; 14(13):1815-24. PubMed ID: 15888479
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells.
    Borghini S; Bachetti T; Fava M; Di Duca M; Cargnin F; Fornasari D; Ravazzolo R; Ceccherini I
    Biochem J; 2006 Apr; 395(2):355-61. PubMed ID: 16402914
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. PHOX2B mutations and ventilatory control.
    Gallego J; Dauger S
    Respir Physiol Neurobiol; 2008 Dec; 164(1-2):49-54. PubMed ID: 18675942
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. [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]  

  • 32. Dysregulation of locus coeruleus development in congenital central hypoventilation syndrome.
    Nobuta H; Cilio MR; Danhaive O; Tsai HH; Tupal S; Chang SM; Murnen A; Kreitzer F; Bravo V; Czeisler C; Gokozan HN; Gygli P; Bush S; Weese-Mayer DE; Conklin B; Yee SP; Huang EJ; Gray PA; Rowitch D; Otero JJ
    Acta Neuropathol; 2015 Aug; 130(2):171-83. PubMed ID: 25975378
    [TBL] [Abstract][Full Text] [Related]  

  • 33. The Hlx homeobox transcription factor is required early in enteric nervous system development.
    Bates MD; Dunagan DT; Welch LC; Kaul A; Harvey RP
    BMC Dev Biol; 2006 Jul; 6():33. PubMed ID: 16854219
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
    Jennings LJ; Yu M; Zhou L; Rand CM; Berry-Kravis EM; Weese-Mayer DE
    Diagn Mol Pathol; 2010 Dec; 19(4):224-31. PubMed ID: 21051998
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. A Histone2BCerulean BAC transgene identifies differential expression of Phox2b in migrating enteric neural crest derivatives and enteric glia.
    Corpening JC; Cantrell VA; Deal KK; Southard-Smith EM
    Dev Dyn; 2008 Apr; 237(4):1119-32. PubMed ID: 18351668
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A single rostrocaudal colonization of the rodent intestine by enteric neuron precursors is revealed by the expression of Phox2b, Ret, and p75 and by explants grown under the kidney capsule or in organ culture.
    Young HM; Hearn CJ; Ciampoli D; Southwell BR; Brunet JF; Newgreen DF
    Dev Biol; 1998 Oct; 202(1):67-84. PubMed ID: 9758704
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.
    Trochet D; Hong SJ; Lim JK; Brunet JF; Munnich A; Kim KS; Lyonnet S; Goridis C; Amiel J
    Hum Mol Genet; 2005 Dec; 14(23):3697-708. PubMed ID: 16249188
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells.
    Cardani S; Di Lascio S; Belperio D; Di Biase E; Ceccherini I; Benfante R; Fornasari D
    Exp Cell Res; 2018 Sep; 370(2):671-679. PubMed ID: 30036539
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.