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 *

135 related articles for article (PubMed ID: 33524248)

  • 21. 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]  

  • 22. Rare cause of neonatal apnea from congenital central hypoventilation syndrome.
    Tovichien P; Rattananont K; Kulthamrongsri N; Chanvanichtrakool M; Yangthara B
    BMC Pediatr; 2022 Feb; 22(1):105. PubMed ID: 35209861
    [TBL] [Abstract][Full Text] [Related]  

  • 23. [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]  

  • 24. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children.
    Charnay AJ; Antisdel-Lomaglio JE; Zelko FA; Rand CM; Le M; Gordon SC; Vitez SF; Tse JW; Brogadir CD; Nelson MN; Berry-Kravis EM; Weese-Mayer DE
    Chest; 2016 Mar; 149(3):809-15. PubMed ID: 26378991
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. Genetic study of a patient with congenital central hypoventilation syndrome in Iran: a case report.
    Khorasanian R; Mojbafan M; Khosravi N
    Mol Biol Rep; 2021 Dec; 48(12):8239-8243. PubMed ID: 34626313
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. 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]  

  • 29. 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]  

  • 30. 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]  

  • 31. Variable human phenotype associated with novel deletions of the PHOX2B gene.
    Jennings LJ; Yu M; Rand CM; Kravis N; Berry-Kravis EM; Patwari PP; Weese-Mayer DE
    Pediatr Pulmonol; 2012 Feb; 47(2):153-61. PubMed ID: 21830319
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. 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]  

  • 34. 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]  

  • 35. Anesthetic Considerations for Patients With Congenital Central Hypoventilation Syndrome: A Systematic Review of the Literature.
    Basu SM; Chung FF; AbdelHakim SF; Wong J
    Anesth Analg; 2017 Jan; 124(1):169-178. PubMed ID: 27918326
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.
    Pace NP; Pace Bardon M; Borg I
    Mol Genet Genomic Med; 2020 Dec; 8(12):e1528. PubMed ID: 33047879
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Obstructive Apneas in a Mouse Model of Congenital Central Hypoventilation Syndrome.
    Madani A; Pitollat G; Sizun E; Cardoit L; Ringot M; Bourgeois T; Ramanantsoa N; Delclaux C; Dauger S; d'Ortho MP; Thoby-Brisson M; Gallego J; Matrot B
    Am J Respir Crit Care Med; 2021 Nov; 204(10):1200-1210. PubMed ID: 34478357
    [No Abstract]   [Full Text] [Related]  

  • 38. Health-related quality of life in young adults with congenital central hypoventilation syndrome due to PHOX2B mutations: a cross-sectional study.
    Verkaeren E; Brion A; Hurbault A; Chenivesse C; Morelot-Panzini C; Gonzalez-Bermejo J; Attali V; Similowski T; Straus C
    Respir Res; 2015 Jun; 16(1):80. PubMed ID: 26122307
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Life-threatening cardiac arrhythmias in congenital central hypoventilation syndrome.
    Laifman E; Keens TG; Bar-Cohen Y; Perez IA
    Eur J Pediatr; 2020 May; 179(5):821-825. PubMed ID: 31950261
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

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