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Items: 1 to 20 of 307

1.

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
2.
3.

Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.

Frints SG, Froyen G, Marynen P, Willekens D, Legius E, Fryns JP.

Am J Med Genet. 2002 Nov 1;112(4):427-8. No abstract available.

PMID:
12376949
4.

Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.

Partington MW, Turner G, Boyle J, Gécz J.

Clin Genet. 2004 Jul;66(1):39-45.

PMID:
15200506
5.

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
6.

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
7.

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
8.

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
9.

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
10.

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
11.

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
12.

Combination of infantile spasms, non-epileptic seizures and complex movement disorder: a new case of ARX-related epilepsy.

Poirier K, Eisermann M, Caubel I, Kaminska A, Peudonnier S, Boddaert N, Saillour Y, Dulac O, Souville I, Beldjord C, Lascelles K, Plouin P, Chelly J, Bahi-Buisson N.

Epilepsy Res. 2008 Aug;80(2-3):224-8. doi: 10.1016/j.eplepsyres.2008.03.019. Epub 2008 May 12.

PMID:
18468866
13.

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
14.

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
15.

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
16.

[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.

17.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.

Strømme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, Bruyere H, Lütcherath V, Gedeon AK, Wallace RH, Scheffer IE, Turner G, Partington M, Frints SG, Fryns JP, Sutherland GR, Mulley JC, Gécz J.

Nat Genet. 2002 Apr;30(4):441-5. Epub 2002 Mar 11.

PMID:
11889467
18.

The ARX mutations: a frequent cause of X-linked mental retardation.

Nawara M, Szczaluba K, Poirier K, Chrzanowska K, Pilch J, Bal J, Chelly J, Mazurczak T.

Am J Med Genet A. 2006 Apr 1;140(7):727-32.

PMID:
16523516
19.

X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX.

Scheffer IE, Wallace RH, Phillips FL, Hewson P, Reardon K, Parasivam G, Stromme P, Berkovic SF, Gecz J, Mulley JC.

Neurology. 2002 Aug 13;59(3):348-56.

PMID:
12177367
20.

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

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