BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

168 related articles for article (PubMed ID: 15199382)

  • 1. Screening of the ARX gene in 682 retarded males.
    Grønskov K; Hjalgrim H; Nielsen IM; Brøndum-Nielsen K
    Eur J Hum Genet; 2004 Sep; 12(9):701-5. PubMed ID: 15199382
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. ARX: a gene for all seasons.
    Gécz J; Cloosterman D; Partington M
    Curr Opin Genet Dev; 2006 Jun; 16(3):308-16. PubMed ID: 16650978
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.
    Arikan Y; Bilgen T; Koken R; Turan S; Mihci E; Keser I
    Genet Couns; 2012; 23(3):367-73. PubMed ID: 23072184
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
    Cossée M; Faivre L; Philippe C; Hichri H; de Saint-Martin A; Laugel V; Bahi-Buisson N; Lemaitre JF; Leheup B; Delobel B; Demeer B; Poirier K; Biancalana V; Pinoit JM; Julia S; Chelly J; Devys D; Mandel JL
    Am J Med Genet A; 2011 Jan; 155A(1):98-105. PubMed ID: 21204215
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.
    Poirier K; Lacombe D; Gilbert-Dussardier B; Raynaud M; Desportes V; de Brouwer AP; Moraine C; Fryns JP; Ropers HH; Beldjord C; Chelly J; Bienvenu T
    Neurogenetics; 2006 Mar; 7(1):39-46. PubMed ID: 16235064
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 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. 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]  

  • 20. Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene.
    Shoubridge C; Cloosterman D; Parkinson-Lawerence E; Brooks D; Gécz J
    Genomics; 2007 Jul; 90(1):59-71. PubMed ID: 17490853
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.