Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 147

1.

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.

PMID:
22642246
[PubMed - indexed for MEDLINE]
Free Article
2.

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
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.

Stepp ML, Cason AL, Finnis M, Mangelsdorf M, Holinski-Feder E, Macgregor D, MacMillan A, Holden JJ, Gecz J, Stevenson RE, Schwartz CE.

BMC Med Genet. 2005 Apr 25;6:16.

PMID:
15850492
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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
[PubMed - indexed for MEDLINE]
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
19738637
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
[PubMed - indexed for MEDLINE]
13.

Mutation screening of the ARX gene in patients with autism.

Chaste P, Nygren G, Anckarsäter H, Råstam M, Coleman M, Leboyer M, Gillberg C, Betancur C.

Am J Med Genet B Neuropsychiatr Genet. 2007 Mar 5;144B(2):228-30.

PMID:
17044103
[PubMed - indexed for MEDLINE]
14.

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. Review.

PMID:
14631200
[PubMed - indexed for MEDLINE]
15.

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

Lisik M, Sieroń AL.

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

PMID:
18975239
[PubMed - indexed for MEDLINE]
16.

Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.

McKenzie O, Ponte I, Mangelsdorf M, Finnis M, Colasante G, Shoubridge C, Stifani S, Gécz J, Broccoli V.

Neuroscience. 2007 Apr 25;146(1):236-47. Epub 2007 Feb 27.

PMID:
17331656
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
Free Article
19.

A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.

Ekşioğlu YZ, Pong AW, Takeoka M.

Epilepsia. 2011 May;52(5):984-92. doi: 10.1111/j.1528-1167.2011.02980.x. Epub 2011 Mar 22.

PMID:
21426321
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk