BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

98 related articles for article (PubMed ID: 25085640)

  • 1. Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases.
    Bagnall RD; Crompton DE; Cutmore C; Regan BM; Berkovic SF; Scheffer IE; Semsarian C
    Neurology; 2014 Sep; 83(11):1018-21. PubMed ID: 25085640
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. PHOX2B polyalanine repeat length is associated with sudden infant death syndrome and unclassified sudden infant death in the Dutch population.
    Liebrechts-Akkerman G; Liu F; Lao O; Ooms AH; van Duijn K; Vermeulen M; Jaddoe VW; Hofman A; Engelberts AC; Kayser M
    Int J Legal Med; 2014 Jul; 128(4):621-9. PubMed ID: 24442913
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing.
    Coll M; Allegue C; Partemi S; Mates J; Del Olmo B; Campuzano O; Pascali V; Iglesias A; Striano P; Oliva A; Brugada R
    Int J Legal Med; 2016 Mar; 130(2):331-9. PubMed ID: 26423924
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
    Bagnall RD; Crompton DE; Petrovski S; Lam L; Cutmore C; Garry SI; Sadleir LG; Dibbens LM; Cairns A; Kivity S; Afawi Z; Regan BM; Duflou J; Berkovic SF; Scheffer IE; Semsarian C
    Ann Neurol; 2016 Apr; 79(4):522-34. PubMed ID: 26704558
    [TBL] [Abstract][Full Text] [Related]  

  • 8. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.
    Trochet D; de Pontual L; Straus C; Gozal D; Trang H; Landrieu P; Munnich A; Lyonnet S; Gaultier C; Amiel J
    Am J Respir Crit Care Med; 2008 Apr; 177(8):906-11. PubMed ID: 18079495
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Increased risk of sudden unexpected death in epilepsy in females using lamotrigine: a nested, case-control study.
    Aurlien D; Larsen JP; Gjerstad L; Taubøll E
    Epilepsia; 2012 Feb; 53(2):258-66. PubMed ID: 22126371
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy.
    Leu C; Balestrini S; Maher B; Hernández-Hernández L; Gormley P; Hämäläinen E; Heggeli K; Schoeler N; Novy J; Willis J; Plagnol V; Ellis R; Reavey E; O'Regan M; Pickrell WO; Thomas RH; Chung SK; Delanty N; McMahon JM; Malone S; Sadleir LG; Berkovic SF; Nashef L; Zuberi SM; Rees MI; Cavalleri GL; Sander JW; Hughes E; Helen Cross J; Scheffer IE; Palotie A; Sisodiya SM
    EBioMedicine; 2015 Sep; 2(9):1063-70. PubMed ID: 26501104
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sudden unexpected death in epilepsy: a search for risk factors.
    Hitiris N; Suratman S; Kelly K; Stephen LJ; Sills GJ; Brodie MJ
    Epilepsy Behav; 2007 Feb; 10(1):138-41. PubMed ID: 17196884
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Sudden unexpected death in epilepsy in children and adolescents].
    Morentin B; Alcaraz R
    Rev Neurol; 2002 Mar 1-15; 34(5):462-5. PubMed ID: 12040516
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death.
    Gronli JO; Santucci BA; Leurgans SE; Berry-Kravis EM; Weese-Mayer DE
    Pediatr Pulmonol; 2008 Jan; 43(1):77-86. PubMed ID: 18041756
    [TBL] [Abstract][Full Text] [Related]  

  • 15. rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.
    Glas J; Seiderer J; Pasciuto G; Tillack C; Diegelmann J; Pfennig S; Konrad A; Schmechel S; Wetzke M; Török HP; Stallhofer J; Jürgens M; Griga T; Klein W; Epplen JT; Schiemann U; Mussack T; Lohse P; Göke B; Ochsenkühn T; Folwaczny M; Müller-Myhsok B; Brand S
    Am J Gastroenterol; 2009 Mar; 104(3):665-72. PubMed ID: 19262523
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome.
    Cross SH; Morgan JE; Pattyn A; West K; McKie L; Hart A; Thaung C; Brunet JF; Jackson IJ
    Hum Mol Genet; 2004 Jul; 13(14):1433-9. PubMed ID: 15150159
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
    Ueda A; Osawa M; Naito H; Ochiai E; Kakimoto Y
    PLoS One; 2022; 17(4):e0267751. PubMed ID: 35486589
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Sensitive detection of polyalanine expansions in PHOX2B by polymerase chain reaction using bisulfite-converted DNA.
    Horiuchi H; Sasaki A; Osawa M; Kijima K; Ino Y; Matoba R; Hayasaka K
    J Mol Diagn; 2005 Nov; 7(5):638-40. PubMed ID: 16258163
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus.
    Tu E; Bagnall RD; Duflou J; Lynch M; Twigg SM; Semsarian C
    Hum Pathol; 2010 Mar; 41(3):392-400. PubMed ID: 20004937
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 5.