BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

410 related articles for article (PubMed ID: 16882781)

  • 1. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome.
    Todd ES; Scott NM; Weese-Mayer DE; Weinberg SM; Berry-Kravis EM; Silvestri JM; Kenny AS; Hauptman SA; Zhou L; Marazita ML
    Pediatrics; 2006 Aug; 118(2):e408-14. PubMed ID: 16882781
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology.
    Todd ES; Weinberg SM; Berry-Kravis EM; Silvestri JM; Kenny AS; Rand CM; Zhou L; Maher BS; Marazita ML; Weese-Mayer DE
    Pediatr Res; 2006 Jan; 59(1):39-45. PubMed ID: 16327002
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE; Rand CM; Berry-Kravis EM; Jennings LJ; Loghmanee DA; Patwari PP; Ceccherini I
    Pediatr Pulmonol; 2009 Jun; 44(6):521-35. PubMed ID: 19422034
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome.
    Diedrich A; Malow BA; Antic NA; Sato K; McEvoy RD; Mathias CJ; Robertson D; Berry-Kravis EM; Weese-Mayer DE
    Clin Auton Res; 2007 Jun; 17(3):177-85. PubMed ID: 17541758
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Haddad syndrome with PHOX2B gene mutation in a Korean infant.
    Lee CW; Lee JH; Jung EY; Choi SO; Kim CS; Lee SL; Kim DK
    J Korean Med Sci; 2011 Feb; 26(2):312-5. PubMed ID: 21286029
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
    Antic NA; Malow BA; Lange N; McEvoy RD; Olson AL; Turkington P; Windisch W; Samuels M; Stevens CA; Berry-Kravis EM; Weese-Mayer DE
    Am J Respir Crit Care Med; 2006 Oct; 174(8):923-7. PubMed ID: 16873766
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Haddad syndrome: a case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease.
    Lai D; Schroer B
    J Child Neurol; 2008 Mar; 23(3):341-3. PubMed ID: 18230845
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 21.