BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 18462864)

  • 1. Expansion of the ARX spectrum.
    Wallerstein R; Sugalski R; Cohn L; Jawetz R; Friez M
    Clin Neurol Neurosurg; 2008 Jun; 110(6):631-4. PubMed ID: 18462864
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.
    Poirier K; Eisermann M; Caubel I; Kaminska A; Peudonnier S; Boddaert N; Saillour Y; Dulac O; Souville I; Beldjord C; Lascelles K; Plouin P; Chelly J; Bahi-Buisson N
    Epilepsy Res; 2008 Aug; 80(2-3):224-8. PubMed ID: 18468866
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
    Rujirabanjerd S; Tongsippunyoo K; Sripo T; Limprasert P
    Eur J Med Genet; 2007; 50(5):346-54. PubMed ID: 17613295
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms.
    Shinozaki Y; Osawa M; Sakuma H; Komaki H; Nakagawa E; Sugai K; Sasaki M; Goto Y
    Brain Dev; 2009 Jun; 31(6):469-72. PubMed ID: 18823727
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.
    Turner G; Partington M; Kerr B; Mangelsdorf M; Gecz J
    Am J Med Genet; 2002 Nov; 112(4):405-11. PubMed ID: 12376946
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.
    Guerrini R; Moro F; Kato M; Barkovich AJ; Shiihara T; McShane MA; Hurst J; Loi M; Tohyama J; Norci V; Hayasaka K; Kang UJ; Das S; Dobyns WB
    Neurology; 2007 Jul; 69(5):427-33. PubMed ID: 17664401
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.
    Troester MM; Trachtenberg T; Narayanan V
    J Child Neurol; 2007 Jun; 22(6):744-8. PubMed ID: 17641262
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [ARX mutations and mental retardation of unknown etiology: three new cases in Spain].
    Romero-Rubio MT; Andrés-Celma M; Castelló-Pomares ML; Roselló M; Ferrer-Bolufer I; Martínez-Castellano F
    Rev Neurol; 2008 Dec 16-31; 47(12):634-7. PubMed ID: 19085879
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The ARX story: a new twist.
    Hahn CD
    Neurology; 2007 Jul; 69(5):421-2. PubMed ID: 17664398
    [No Abstract]   [Full Text] [Related]  

  • 10. Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
    Partington MW; Turner G; Boyle J; Gécz J
    Clin Genet; 2004 Jul; 66(1):39-45. PubMed ID: 15200506
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
    Gestinari-Duarte Rde S; Santos-Rebouças CB; Boy RT; Pimentel MM
    Eur J Med Genet; 2006; 49(3):269-75. PubMed ID: 16762829
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.
    Ekşioğlu YZ; Pong AW; Takeoka M
    Epilepsia; 2011 May; 52(5):984-92. PubMed ID: 21426321
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [ARX gene mutations].
    Fernández-Fernández MA; Rufo-Campos M; Madruga-Garrido M; Blanco-Martínez B; Candau Fernández-Mensaque R
    Rev Neurol; 2009 May 16-31; 48(10):560. PubMed ID: 19434596
    [No Abstract]   [Full Text] [Related]  

  • 14. A new paradigm for West syndrome based on molecular and cell biology.
    Kato M
    Epilepsy Res; 2006 Aug; 70 Suppl 1():S87-95. PubMed ID: 16806828
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.
    Fullston T; Finnis M; Hackett A; Hodgson B; Brueton L; Baynam G; Norman A; Reish O; Shoubridge C; Gecz J
    Clin Genet; 2011 Dec; 80(6):510-22. PubMed ID: 21496008
    [TBL] [Abstract][Full Text] [Related]  

  • 16. ARX spectrum disorders: making inroads into the molecular pathology.
    Shoubridge C; Fullston T; Gécz J
    Hum Mutat; 2010 Aug; 31(8):889-900. PubMed ID: 20506206
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Frameshift mutations of the ARX gene in familial Ohtahara syndrome.
    Kato M; Koyama N; Ohta M; Miura K; Hayasaka K
    Epilepsia; 2010 Sep; 51(9):1679-84. PubMed ID: 20384723
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
    Szczaluba K; Nawara M; Poirier K; Pilch J; Gajdulewicz M; Spodar K; Chelly J; Bal J; Mazurczak T
    Neurology; 2006 Dec; 67(11):2073-5. PubMed ID: 17082467
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes.
    Sherr EH
    Curr Opin Pediatr; 2003 Dec; 15(6):567-71. PubMed ID: 14631200
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of the ARX gene: rethinking the ARX phenotype in females.
    Bettella E; Di Rosa G; Polli R; Leonardi E; Tortorella G; Sartori S; Murgia A
    Clin Genet; 2013 Jul; 84(1):82-5. PubMed ID: 23039062
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.