BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 28150386)

  • 1. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
    Mattiske T; Moey C; Vissers LE; Thorne N; Georgeson P; Bakshi M; Shoubridge C
    Hum Mutat; 2017 May; 38(5):548-555. PubMed ID: 28150386
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.
    Kato M; Das S; Petras K; Kitamura K; Morohashi KI; Abuelo DN; Barr M; Bonneau D; Brady AF; Carpenter NJ; Cipero KL; Frisone F; Fukuda T; Guerrini R; Iida E; Itoh M; Lewanda AF; Nanba Y; Oka A; Proud VK; Saugier-Veber P; Schelley SL; Selicorni A; Shaner R; Silengo M; Stewart F; Sugiyama N; Toyama J; Toutain A; Vargas AL; Yanazawa M; Zackai EH; Dobyns WB
    Hum Mutat; 2004 Feb; 23(2):147-159. PubMed ID: 14722918
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene.
    Hartmann H; Uyanik G; Gross C; Hehr U; Lücke T; Arslan-Kirchner M; Antosch B; Das AM; Winkler J
    Neuropediatrics; 2004 Jun; 35(3):157-60. PubMed ID: 15248097
    [TBL] [Abstract][Full Text] [Related]  

  • 4. ARX mutations in X-linked lissencephaly with abnormal genitalia.
    Uyanik G; Aigner L; Martin P; Gross C; Neumann D; Marschner-Schäfer H; Hehr U; Winkler J
    Neurology; 2003 Jul; 61(2):232-5. PubMed ID: 12874405
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
    Shoubridge C; Tan MH; Seiboth G; Gécz J
    Hum Mol Genet; 2012 Apr; 21(7):1639-47. PubMed ID: 22194193
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. [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]  

  • 11. 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]  

  • 12. 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]  

  • 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. Further characterisation of
    Gras M; Heide S; Keren B; Valence S; Garel C; Whalen S; Jansen AC; Keymolen K; Stouffs K; Jennesson M; Poirsier C; Lesca G; Depienne C; Nava C; Rastetter A; Curie A; Cuisset L; Des Portes V; Milh M; Charles P; Mignot C; Héron D
    J Med Genet; 2024 Jan; 61(2):103-108. PubMed ID: 37879892
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. Basal ganglia involvement in
    Curie A; Friocourt G; des Portes V; Roy A; Nazir T; Brun A; Cheylus A; Marcorelles P; Retzepi K; Maleki N; Bussy G; Paulignan Y; Reboul A; Ibarrola D; Kong J; Hadjikhani N; Laquerrière A; Gollub RL
    Neuroimage Clin; 2018; 19():454-465. PubMed ID: 29984154
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.
    Kitamura K; Yanazawa M; Sugiyama N; Miura H; Iizuka-Kogo A; Kusaka M; Omichi K; Suzuki R; Kato-Fukui Y; Kamiirisa K; Matsuo M; Kamijo S; Kasahara M; Yoshioka H; Ogata T; Fukuda T; Kondo I; Kato M; Dobyns WB; Yokoyama M; Morohashi K
    Nat Genet; 2002 Nov; 32(3):359-69. PubMed ID: 12379852
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
    Thai MHN; Gardner A; Redpath L; Mattiske T; Dearsley O; Shaw M; Vulto-van Silfhout AT; Pfundt R; Dixon J; McGaughran J; Pérez-Jurado LA; Gécz J; Shoubridge C
    Hum Mutat; 2020 Aug; 41(8):1407-1424. PubMed ID: 32383243
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.