These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
24. [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]
25. 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]
26. 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]
27. ARX: a gene for all seasons. Gécz J; Cloosterman D; Partington M Curr Opin Genet Dev; 2006 Jun; 16(3):308-16. PubMed ID: 16650978 [TBL] [Abstract][Full Text] [Related]
28. 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. PubMed ID: 21426321 [TBL] [Abstract][Full Text] [Related]
29. CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. Nabbout R; Depienne C; Chipaux M; Girard B; Souville I; Trouillard O; Dulac O; Chelly J; Afenjar A; Héron D; Leguern E; Beldjord C; Bienvenu T; Bahi-Buisson N Epilepsy Res; 2009 Nov; 87(1):25-30. PubMed ID: 19734009 [TBL] [Abstract][Full Text] [Related]
30. 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; 144B(2):228-30. PubMed ID: 17044103 [TBL] [Abstract][Full Text] [Related]
31. ARX spectrum disorders: making inroads into the molecular pathology. Shoubridge C; Fullston T; Gécz J Hum Mutat; 2010 Aug; 31(8):889-900. PubMed ID: 20506206 [TBL] [Abstract][Full Text] [Related]
32. Frameshift mutations of the ARX gene in familial Ohtahara syndrome. Kato M; Koyama N; Ohta M; Miura K; Hayasaka K Epilepsia; 2010 Sep; 51(9):1679-84. PubMed ID: 20384723 [TBL] [Abstract][Full Text] [Related]
33. The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR). Fullenkamp AN; El-Hodiri HM Biochem Biophys Res Commun; 2008 Dec; 377(1):73-8. PubMed ID: 18835247 [TBL] [Abstract][Full Text] [Related]
34. Alport syndrome. Molecular genetic aspects. Hertz JM Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970 [TBL] [Abstract][Full Text] [Related]
37. Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. de Souza Gestinari-Duarte R; Santos-Rebouças CB; Pimentel MMG J Hum Genet; 2006; 51(8):737-740. PubMed ID: 16845484 [TBL] [Abstract][Full Text] [Related]
38. 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]
40. [HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family]. Zhao XL; Meng JP; Sun M; Ao Y; Wu AH; Lo HY; Zhang X Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Feb; 22(1):5-9. PubMed ID: 15696469 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]