BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

174 related articles for article (PubMed ID: 12689693)

  • 1. X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.
    Hirose S; Mitsudome A
    Brain Dev; 2003 Apr; 25(3):161-5. PubMed ID: 12689693
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
    Fullston T; Brueton L; Willis T; Philip S; MacPherson L; Finnis M; Gecz J; Morton J
    Eur J Hum Genet; 2010 Feb; 18(2):157-62. PubMed ID: 19738637
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
    Mandel JL; Chelly J
    Eur J Hum Genet; 2004 Sep; 12(9):689-93. PubMed ID: 15319782
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.
    Kitamura K; Itou Y; Yanazawa M; Ohsawa M; Suzuki-Migishima R; Umeki Y; Hohjoh H; Yanagawa Y; Shinba T; Itoh M; Nakamura K; Goto Y
    Hum Mol Genet; 2009 Oct; 18(19):3708-24. PubMed ID: 19605412
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.
    Marsh E; Fulp C; Gomez E; Nasrallah I; Minarcik J; Sudi J; Christian SL; Mancini G; Labosky P; Dobyns W; Brooks-Kayal A; Golden JA
    Brain; 2009 Jun; 132(Pt 6):1563-76. PubMed ID: 19439424
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. Genetics of the epilepsies.
    Gutierrez-Delicado E; Serratosa JM
    Curr Opin Neurol; 2004 Apr; 17(2):147-53. PubMed ID: 15021241
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [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]  

  • 13. Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.
    Strømme P; Mangelsdorf ME; Scheffer IE; Gécz J
    Brain Dev; 2002 Aug; 24(5):266-8. PubMed ID: 12142061
    [TBL] [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. 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]  

  • 16. 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]  

  • 17. [ARX--one gene--many phenotypes].
    Lisik M; Sieroń AL
    Neurol Neurochir Pol; 2008; 42(4):338-44. PubMed ID: 18975239
    [TBL] [Abstract][Full Text] [Related]  

  • 18. XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.
    Stepp ML; Cason AL; Finnis M; Mangelsdorf M; Holinski-Feder E; Macgregor D; MacMillan A; Holden JJ; Gecz J; Stevenson RE; Schwartz CE
    BMC Med Genet; 2005 Apr; 6():16. PubMed ID: 15850492
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX.
    Poeta L; Fusco F; Drongitis D; Shoubridge C; Manganelli G; Filosa S; Paciolla M; Courtney M; Collombat P; Lioi MB; Gecz J; Ursini MV; Miano MG
    Am J Hum Genet; 2013 Jan; 92(1):114-25. PubMed ID: 23246292
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.