BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

332 related articles for article (PubMed ID: 29098737)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
    Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H
    J Clin Sleep Med; 2014 Mar; 10(3):327-9. PubMed ID: 24634632
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.
    Di Zanni E; Bachetti T; Parodi S; Bocca P; Prigione I; Di Lascio S; Fornasari D; Ravazzolo R; Ceccherini I
    Neurobiol Dis; 2012 Jan; 45(1):508-18. PubMed ID: 21964250
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.
    Katwa U; D'Gama AM; Qualls AE; Donovan LM; Heffernan J; Shi J; Agrawal PB
    Am J Med Genet A; 2018 Jul; 176(7):1627-1631. PubMed ID: 29704303
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.
    Parodi S; Di Zanni E; Di Lascio S; Bocca P; Prigione I; Fornasari D; Pennuto M; Bachetti T; Ceccherini I
    J Mol Med (Berl); 2012 Sep; 90(9):1025-35. PubMed ID: 22307522
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 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. Alanine Expansions Associated with Congenital Central Hypoventilation Syndrome Impair PHOX2B Homeodomain-mediated Dimerization and Nuclear Import.
    Di Lascio S; Belperio D; Benfante R; Fornasari D
    J Biol Chem; 2016 Jun; 291(25):13375-93. PubMed ID: 27129232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Characteristics and outcomes in children with congenital central hypoventilation syndrome on long-term mechanical ventilation in the Netherlands.
    Evers-Bikker EE; de Weerd W; Wijkstra PJ; Corel L; Verweij LP; Vosse BAH
    Eur J Pediatr; 2024 Feb; 183(2):791-797. PubMed ID: 38001308
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype.
    Berry-Kravis EM; Zhou L; Rand CM; Weese-Mayer DE
    Am J Respir Crit Care Med; 2006 Nov; 174(10):1139-44. PubMed ID: 16888290
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.