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 *

141 related articles for article (PubMed ID: 38454954)

  • 1. Pulmonary hypertension in an adult patient with congenital central hypoventilation syndrome: a case report.
    Terui Y; Ohura S; Nozaki T; Yagi T
    Eur Heart J Case Rep; 2024 Mar; 8(3):ytae109. PubMed ID: 38454954
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. Recurrent apnoea and respiratory failure in an infant: congenital central hypoventilation syndrome with a novel
    Anand N; Leu RM; Simon D; Kasi AS
    BMJ Case Rep; 2021 Mar; 14(3):. PubMed ID: 33741569
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [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]  

  • 5. Variable phenotypes in congenital central hypoventilation syndrome with
    Kasi AS; Li H; Jurgensen TJ; Guglani L; Keens TG; Perez IA
    J Clin Sleep Med; 2021 Oct; 17(10):2049-2055. PubMed ID: 33983112
    [TBL] [Abstract][Full Text] [Related]  

  • 6. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood.
    Lee P; Su YN; Yu CJ; Yang PC; Wu HD
    Chest; 2009 Feb; 135(2):537-544. PubMed ID: 19201717
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Reversal of pulmonary hypertension after diaphragm pacing in an adult patient with congenital central hypoventilation syndrome.
    Morélot-Panzini C; Gonzalez-Bermejo J; Straus C; Similowski T
    Int J Artif Organs; 2013 Jun; 36(6):434-8. PubMed ID: 23653299
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital central hypoventilation syndrome: diagnostic and management challenges.
    Kasi AS; Perez IA; Kun SS; Keens TG
    Pediatric Health Med Ther; 2016; 7():99-107. PubMed ID: 29388615
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.
    Mei M; Yang L; Lu Y; Wang L; Cheng G; Cao Y; Chen C; Qian L; Zhou W
    Transl Pediatr; 2021 Apr; 10(4):733-745. PubMed ID: 34012823
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation.
    Meylemans A; Depuydt P; De Baere E; Hertegonne K; Derom E; Dermaut B; Hemelsoet D
    Acta Neurol Belg; 2021 Feb; 121(1):23-35. PubMed ID: 32335870
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Congenital Central Hypoventilation Syndrome Presenting with Seizures.
    Binmanee A; Alfadhel A; Alzamil N; ALBanyan S; Alammar M
    Cureus; 2020 Jan; 12(1):e6680. PubMed ID: 31976189
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.