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Items: 1 to 20 of 241

1.

Clinical study of two brothers with a novel 33 bp duplication in the ARX gene.

Demos MK, Fullston T, Partington MW, Gécz J, Gibson WT.

Am J Med Genet A. 2009 Jul;149A(7):1482-6. doi: 10.1002/ajmg.a.32851.

PMID:
19507262
2.

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
3.

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
4.

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
5.

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 May-Jun;49(3):269-75. Epub 2005 Sep 26.

PMID:
16762829
6.

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome).

Kato M, Saitoh S, Kamei A, Shiraishi H, Ueda Y, Akasaka M, Tohyama J, Akasaka N, Hayasaka K.

Am J Hum Genet. 2007 Aug;81(2):361-6. Epub 2007 Jun 11.

7.

A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations.

Reish O, Fullston T, Regev M, Heyman E, Gecz J.

Am J Med Genet A. 2009 Aug;149A(8):1655-60. doi: 10.1002/ajmg.a.32842.

PMID:
19606478
8.

Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.

Turner G, Partington M, Kerr B, Mangelsdorf M, Gecz J.

Am J Med Genet. 2002 Nov 1;112(4):405-11.

PMID:
12376946
9.

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms.

Conti V, Marini C, Mei D, Falchi M, Ferrari AR, Guerrini R.

Am J Med Genet A. 2011 Jan;155A(1):164-7. doi: 10.1002/ajmg.a.33753. Epub 2010 Dec 10.

PMID:
21204226
10.

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
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.
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.

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
15.

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Bienvenu T, Poirier K, Friocourt G, Bahi N, Beaumont D, Fauchereau F, Ben Jeema L, Zemni R, Vinet MC, Francis F, Couvert P, Gomot M, Moraine C, van Bokhoven H, Kalscheuer V, Frints S, Gecz J, Ohzaki K, Chaabouni H, Fryns JP, Desportes V, Beldjord C, Chelly J.

Hum Mol Genet. 2002 Apr 15;11(8):981-91.

PMID:
11971879
16.

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.

17.

Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.

de Souza Gestinari-Duarte R, Santos-Rebouças CB, Pimentel MM.

J Hum Genet. 2006;51(8):737-40. Epub 2006 Jul 15.

PMID:
16845484
18.

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Strømme P, Mangelsdorf ME, Scheffer IE, Gécz J.

Brain Dev. 2002 Aug;24(5):266-8.

PMID:
12142061
19.

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
20.

[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].

Romero-Rubio MT, Andrés-Celma M, Castelló-Pomares ML, Roselló M, Ferrer-Bolufer I, Martínez-Castellano F.

Rev Neurol. 2008 Dec 16-31;47(12):634-7. Spanish.

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