100 related articles for article (PubMed ID: 24727054)
1. Mosaicism for c.431_454dup in ARX causes a mild Partington syndrome phenotype.
Grønskov K; Diness B; Stahlhut M; Zilmer M; Tümer Z; Bisgaard AM; Brøndum-Nielsen K
Eur J Med Genet; 2014; 57(6):284-7. PubMed ID: 24727054
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17641262
[TBL] [Abstract][Full Text] [Related]
3. 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; 50(5):346-54. PubMed ID: 17613295
[TBL] [Abstract][Full Text] [Related]
4. Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
Szczaluba K; Nawara M; Poirier K; Pilch J; Gajdulewicz M; Spodar K; Chelly J; Bal J; Mazurczak T
Neurology; 2006 Dec; 67(11):2073-5. PubMed ID: 17082467
[TBL] [Abstract][Full Text] [Related]
5. 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; 112(4):405-11. PubMed ID: 12376946
[TBL] [Abstract][Full Text] [Related]
6. [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. PubMed ID: 19085879
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 19507262
[TBL] [Abstract][Full Text] [Related]
8. C.428_451 dup(24bp) mutation of the ARX gene detected in a Turkish family.
Arikan Y; Bilgen T; Koken R; Turan S; Mihci E; Keser I
Genet Couns; 2012; 23(3):367-73. PubMed ID: 23072184
[TBL] [Abstract][Full Text] [Related]
9. Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
Poirier K; Abriol J; Souville I; Laroche-Raynaud C; Beldjord C; Gilbert B; Chelly J; Bienvenu T
Hum Genet; 2005 Oct; 118(1):45-8. PubMed ID: 16078051
[TBL] [Abstract][Full Text] [Related]
10. [ARX--one gene--many phenotypes].
Lisik M; Sieroń AL
Neurol Neurochir Pol; 2008; 42(4):338-44. PubMed ID: 18975239
[TBL] [Abstract][Full Text] [Related]
11. Expansion of the ARX spectrum.
Wallerstein R; Sugalski R; Cohn L; Jawetz R; Friez M
Clin Neurol Neurosurg; 2008 Jun; 110(6):631-4. PubMed ID: 18462864
[TBL] [Abstract][Full Text] [Related]
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; 49(3):269-75. PubMed ID: 16762829
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 19606478
[TBL] [Abstract][Full Text] [Related]
14. 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. PubMed ID: 15200506
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21204215
[TBL] [Abstract][Full Text] [Related]
16. X-linked mental deficiency.
des Portes V
Handb Clin Neurol; 2013; 111():297-306. PubMed ID: 23622180
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 16235064
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 18823727
[TBL] [Abstract][Full Text] [Related]
19. Screening of the ARX gene in 682 retarded males.
Grønskov K; Hjalgrim H; Nielsen IM; Brøndum-Nielsen K
Eur J Hum Genet; 2004 Sep; 12(9):701-5. PubMed ID: 15199382
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 22642246
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]