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Items: 1 to 20 of 31

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.
3.

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX.

Conti V, Marini C, Gana S, Sudi J, Dobyns WB, Guerrini R.

Am J Med Genet A. 2011 Apr;155A(4):892-7. doi: 10.1002/ajmg.a.33923. Epub 2011 Mar 17.

PMID:
21416597
4.

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. doi: 10.1002/ajmg.a.33785.

PMID:
21204215
5.

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
6.

Aicardi Syndrome.

Sutton VR, Van den Veyver IB.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Jun 30 [updated 2014 Nov 6].

7.

DCX-Related Disorders.

Hehr U, Uyanik G, Aigner L, Couillard-Despres S, Winkler J.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2007 Oct 19 [updated 2011 Mar 24].

8.

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.

9.

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 1;18(19):3708-24. doi: 10.1093/hmg/ddp318. Epub 2009 Jul 15.

PMID:
19605412
10.

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 Jr, Noebels JL.

J Neurosci. 2009 Jul 8;29(27):8752-63. doi: 10.1523/JNEUROSCI.0915-09.2009.

11.

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. doi: 10.1093/brain/awp107. Epub 2009 May 12.

12.

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

Lisik M, Sieroń AL.

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

PMID:
18975239
13.

Expansion of the ARX spectrum.

Wallerstein R, Sugalski R, Cohn L, Jawetz R, Friez M.

Clin Neurol Neurosurg. 2008 Jun;110(6):631-4. doi: 10.1016/j.clineuro.2008.03.007. Epub 2008 May 6.

PMID:
18462864
14.

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

PMID:
17613295
16.

[Genetic and clinical aspects of lissencephaly].

Verloes A, Elmaleh M, Gonzales M, Laquerrière A, Gressens P.

Rev Neurol (Paris). 2007 May;163(5):533-47. Review. French.

PMID:
17571022
17.

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
18.

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
19.

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

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