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Items: 1 to 20 of 175

1.

Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARX.

Oegema R, Maat-Kievit A, Lequin MH, Schot R, Nanninga-van den Neste VM, Doornbos ME, de Wit MC, Halley DJ, Mancini GM.

Am J Med Genet A. 2012 Jun;158A(6):1472-6. doi: 10.1002/ajmg.a.35365. Epub 2012 May 14.

PMID:
22585566
2.

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Kato M, Das S, Petras K, Kitamura K, Morohashi K, 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):147-59.

PMID:
14722918
3.
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.

PMID:
17641262
5.

A new paradigm for West syndrome based on molecular and cell biology.

Kato M.

Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review.

PMID:
16806828
6.

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. doi: 10.1038/ejhg.2009.139. Epub 2009 Sep 9.

7.

[ARX--one gene--many phenotypes].

Lisik M, Sieroń AL.

Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Review. Polish.

PMID:
18975239
8.

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 31;69(5):427-33.

PMID:
17664401
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. doi: 10.1016/j.braindev.2008.08.006. Epub 2008 Sep 26.

PMID:
18823727
10.
11.

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 Sep-Oct;50(5):346-54. Epub 2007 May 27.

PMID:
17613295
12.

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. Epub 2005 Oct 19.

PMID:
16235064
13.

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J.

Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review.

PMID:
20506206
14.

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 1;21(7):1639-47. doi: 10.1093/hmg/ddr601. Epub 2011 Dec 21.

PMID:
22194193
15.

Genetic malformations of cortical development.

Guerrini R, Marini C.

Exp Brain Res. 2006 Aug;173(2):322-33. Epub 2006 May 25. Review.

PMID:
16724181
16.

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. doi: 10.1111/j.1399-0004.2011.01685.x. Epub 2011 May 18.

PMID:
21496008
17.

The phenotypic spectrum of ARX mutations.

Suri M.

Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review.

PMID:
15707237
18.

Arx polyalanine expansion in mice leads to reduced pancreatic α-cell specification and increased α-cell death.

Wilcox CL, Terry NA, May CL.

PLoS One. 2013 Nov 13;8(11):e78741. doi: 10.1371/journal.pone.0078741. eCollection 2013.

19.

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. doi: 012156/AIM.009.

20.

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.

PMID:
15248097

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