These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

224 related articles for article (PubMed ID: 12142061)

  • 1. 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]  

  • 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. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.
    Scheffer IE; Wallace RH; Phillips FL; Hewson P; Reardon K; Parasivam G; Stromme P; Berkovic SF; Gecz J; Mulley JC
    Neurology; 2002 Aug; 59(3):348-56. PubMed ID: 12177367
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
    Strømme P; Mangelsdorf ME; Shaw MA; Lower KM; Lewis SM; Bruyere H; Lütcherath V; Gedeon AK; Wallace RH; Scheffer IE; Turner G; Partington M; Frints SG; Fryns JP; Sutherland GR; Mulley JC; Gécz J
    Nat Genet; 2002 Apr; 30(4):441-5. PubMed ID: 11889467
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy.
    Nabbout R; Depienne C; Chipaux M; Girard B; Souville I; Trouillard O; Dulac O; Chelly J; Afenjar A; Héron D; Leguern E; Beldjord C; Bienvenu T; Bahi-Buisson N
    Epilepsy Res; 2009 Nov; 87(1):25-30. PubMed ID: 19734009
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.
    Kalscheuer VM; Tao J; Donnelly A; Hollway G; Schwinger E; Kübart S; Menzel C; Hoeltzenbein M; Tommerup N; Eyre H; Harbord M; Haan E; Sutherland GR; Ropers HH; Gécz J
    Am J Hum Genet; 2003 Jun; 72(6):1401-11. PubMed ID: 12736870
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.
    Olivetti PR; Noebels JL
    Curr Opin Neurobiol; 2012 Oct; 22(5):859-65. PubMed ID: 22565167
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
    Moey C; Topper S; Karn M; Johnson AK; Das S; Vidaurre J; Shoubridge C
    Eur J Hum Genet; 2016 May; 24(5):681-9. PubMed ID: 26306640
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
    Shoubridge C; Jackson M; Grinton B; Berkovic SF; Scheffer IE; Huskins S; Thomas A; Ware T
    Am J Med Genet A; 2019 Aug; 179(8):1483-1490. PubMed ID: 31145546
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. The phenotypic spectrum of ARX mutations.
    Suri M
    Dev Med Child Neurol; 2005 Feb; 47(2):133-7. PubMed ID: 15707237
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational screening of ARX gene in Iranian families with X-linked intellectual disability.
    Abedini SS; Kahrizi K; Behjati F; Banihashemi S; Ghasemi Firoozabadi S; Najmabadi H
    Arch Iran Med; 2012 Jun; 15(6):361-5. PubMed ID: 22642246
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.