BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

255 related articles for article (PubMed ID: 15921244)

  • 1. X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
    Kato M; Dobyns WB
    J Child Neurol; 2005 Apr; 20(4):392-7. PubMed ID: 15921244
    [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. Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG).
    Okazaki S; Ohsawa M; Kuki I; Kawawaki H; Koriyama T; Ri S; Ichiba H; Hai E; Inoue T; Nakamura H; Goto Y; Tomiwa K; Yamano T; Kitamura K; Itoh M
    Acta Neuropathol; 2008 Oct; 116(4):453-62. PubMed ID: 18458920
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome.
    Spinosa MJ; Liberalesso PB; Vieira SC; Olmos AS; Löhr A
    Arq Neuropsiquiatr; 2006 Dec; 64(4):1023-6. PubMed ID: 17221017
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Inactivation of Arx, the murine ortholog of the X-linked lissencephaly with ambiguous genitalia gene, leads to severe disorganization of the ventral telencephalon with impaired neuronal migration and differentiation.
    Colombo E; Collombat P; Colasante G; Bianchi M; Long J; Mansouri A; Rubenstein JL; Broccoli V
    J Neurosci; 2007 Apr; 27(17):4786-98. PubMed ID: 17460091
    [TBL] [Abstract][Full Text] [Related]  

  • 11. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.
    Bonneau D; Toutain A; Laquerrière A; Marret S; Saugier-Veber P; Barthez MA; Radi S; Biran-Mucignat V; Rodriguez D; Gélot A
    Ann Neurol; 2002 Mar; 51(3):340-9. PubMed ID: 11891829
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Neuronal migration disorders, genetics, and epileptogenesis.
    Guerrini R; Filippi T
    J Child Neurol; 2005 Apr; 20(4):287-99. PubMed ID: 15921228
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. [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]  

  • 16. Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.
    Jagła M; Kruczek P; Kwinta P
    J Clin Ultrasound; 2008; 36(6):387-90. PubMed ID: 18412232
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18.
    Siehr MS; Massey CA; Noebels JL
    Dis Model Mech; 2020 Mar; 13(3):. PubMed ID: 32033960
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.
    Price MG; Yoo JW; Burgess DL; Deng F; Hrachovy RA; Frost JD; Noebels JL
    J Neurosci; 2009 Jul; 29(27):8752-63. PubMed ID: 19587282
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development.
    Beguin S; Crépel V; Aniksztejn L; Becq H; Pelosi B; Pallesi-Pocachard E; Bouamrane L; Pasqualetti M; Kitamura K; Cardoso C; Represa A
    Cereb Cortex; 2013 Jun; 23(6):1484-94. PubMed ID: 22628459
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.