BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 30255221)

  • 21. Further Delineation of Duplications of
    Poeta L; Malacarne M; Padula A; Drongitis D; Verrillo L; Lioi MB; Chiariello AM; Bianco S; Nicodemi M; Piccione M; Salzano E; Coviello D; Miano MG
    Int J Mol Sci; 2022 Mar; 23(6):. PubMed ID: 35328505
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay.
    Sirisena ND; McElreavey K; Bashamboo A; de Silva KS; Jayasekara RW; Dissanayake VH
    Sex Dev; 2014; 8(4):156-9. PubMed ID: 25074490
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. A New Role for LOC101928437 in Non-Syndromic Intellectual Disability: Findings from a Family-Based Association Test.
    Zhou S; Shi Z; Cui M; Li J; Ma Z; Shi Y; Zheng Z; Zhang F; Jin T; Geng T; Chen C; Guo Y; Zhou J; Huang S; Guo X; Gao L; Gong P; Gao X; Zhang K
    PLoS One; 2015; 10(8):e0135669. PubMed ID: 26287547
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
    Ishibashi M; Manning E; Shoubridge C; Krecsmarik M; Hawkins TA; Giacomotto J; Zhao T; Mueller T; Bader PI; Cheung SW; Stankiewicz P; Bain NL; Hackett A; Reddy CC; Mechaly AS; Peers B; Wilson SW; Lenhard B; Bally-Cuif L; Gecz J; Becker TS; Rinkwitz S
    Hum Genet; 2015 Nov; 134(11-12):1163-82. PubMed ID: 26337422
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
    Kharbanda M; Kannike K; Lampe A; Berg J; Timmusk T; Sepp M
    Eur J Med Genet; 2016 Jun; 59(6-7):310-4. PubMed ID: 27132474
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Mutation screening of the ARX gene in patients with autism.
    Chaste P; Nygren G; Anckarsäter H; Råstam M; Coleman M; Leboyer M; Gillberg C; Betancur C
    Am J Med Genet B Neuropsychiatr Genet; 2007 Mar; 144B(2):228-30. PubMed ID: 17044103
    [TBL] [Abstract][Full Text] [Related]  

  • 29. 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]  

  • 30. ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons.
    Lee K; Ireland K; Bleeze M; Shoubridge C
    Neuroscience; 2017 Aug; 357():220-231. PubMed ID: 28627419
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX).
    Loring KE; Mattiske T; Lee K; Zysk A; Jackson MR; Noebels JL; Shoubridge C
    Neurobiol Dis; 2021 Jun; 153():105329. PubMed ID: 33711494
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.
    Marques I; Sá MJ; Soares G; Mota Mdo C; Pinheiro C; Aguiar L; Amado M; Soares C; Calado A; Dias P; Sousa AB; Fortuna AM; Santos R; Howell KB; Ryan MM; Leventer RJ; Sachdev R; Catford R; Friend K; Mattiske TR; Shoubridge C; Jorge P
    Mol Genet Genomic Med; 2015 May; 3(3):203-14. PubMed ID: 26029707
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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]  

  • 35. 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]  

  • 36. Generation of FLAG-tagged Arx knock-in mouse model.
    Lim Y; Cho IT; Golden JA; Cho G
    Genesis; 2022 Jul; 60(6-7):e23479. PubMed ID: 35656878
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. 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]  

  • 39. High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies.
    Quillé ML; Carat S; Quéméner-Redon S; Hirchaud E; Baron D; Benech C; Guihot J; Placet M; Mignen O; Férec C; Houlgatte R; Friocourt G
    PLoS One; 2011; 6(9):e25181. PubMed ID: 21966449
    [TBL] [Abstract][Full Text] [Related]  

  • 40. ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.
    Kwong AK; Chu VL; Rodenburg RJT; Smeitink J; Fung CW
    Brain Dev; 2019 Nov; 41(10):883-887. PubMed ID: 31324350
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.