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

作者信息

Frints Suzanna G M, Froyen Guy, Marynen Peter, Willekens Diane, Legius Eric, Fryns Jean-Pierre

出版信息

Am J Med Genet. 2002 Nov 1;112(4):427-8. doi: 10.1002/ajmg.10628.

DOI:10.1002/ajmg.10628
PMID:12376949
Abstract
摘要

相似文献

1
Re-evaluation of MRX36 family after discovery of an ARX gene mutation reveals mild neurological features of Partington syndrome.
Am J Med Genet. 2002 Nov 1;112(4):427-8. doi: 10.1002/ajmg.10628.
2
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation.两个患有相同ARX基因突变的家族中智力迟钝、自闭症、癫痫和张力障碍性手部运动的可变表现。
Am J Med Genet. 2002 Nov 1;112(4):405-11. doi: 10.1002/ajmg.10714.
3
A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.一名患有非综合征性智力障碍男性的ARX基因新突变。
J Child Neurol. 2007 Jun;22(6):744-8. doi: 10.1177/0883073807304000.
4
Clinical study and haplotype analysis in two brothers with Partington syndrome.
Am J Med Genet. 2002 Nov 1;112(4):361-8. doi: 10.1002/ajmg.10630.
5
[ARX gene mutations].[ARX基因突变]
Rev Neurol. 2009;48(10):560.
6
[ARX mutations and mental retardation of unknown etiology: three new cases in Spain].[ARX 突变与病因不明的智力障碍:西班牙的三例新病例]
Rev Neurol. 2008;47(12):634-7.
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Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.泰国发育迟缓儿科患者中无尾相关同源盒(ARX)基因的突变筛查:泰国的首次报告
Eur J Med Genet. 2007 Sep-Oct;50(5):346-54. doi: 10.1016/j.ejmg.2007.05.003. Epub 2007 May 27.
8
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.三个由ARX基因中428 - 451dup(24bp)突变导致的X连锁智力障碍新家族。
Clin Genet. 2004 Jul;66(1):39-45. doi: 10.1111/j.0009-9163.2004.00268.x.
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Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice.三种人类ARX突变在小鼠中导致了类似无脑回畸形以及伴有癫痫样多效性表型的智力迟钝。
Hum Mol Genet. 2009 Oct 1;18(19):3708-24. doi: 10.1093/hmg/ddp318. Epub 2009 Jul 15.
10
TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.在对一个X连锁智力发育迟缓(XLMR)家系进行神经心理学评估后,重新考虑TM4SF2基因的参与情况。
Am J Med Genet. 2002 Nov 1;112(4):400-4. doi: 10.1002/ajmg.10564.

引用本文的文献

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Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with Gene Mutation c.558_560dup p.(Pro187dup).一名成年患者携带c.558_560dup p.(Pro187dup)基因突变,表现为智力残疾、肌张力障碍和帕金森病
Case Rep Genet. 2023 Feb 9;2023:3636748. doi: 10.1155/2023/3636748. eCollection 2023.
2
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.ARX基因的c.429_452重复:肢体运动性失用症的独特发育模型。
Orphanet J Rare Dis. 2014 Feb 14;9:25. doi: 10.1186/1750-1172-9-25.
3
Fragile X and X-linked intellectual disability: four decades of discovery.
脆性 X 综合征与 X 连锁智力障碍:四十年的探索历程。
Am J Hum Genet. 2012 Apr 6;90(4):579-90. doi: 10.1016/j.ajhg.2012.02.018.
4
Mutations in ARX Result in Several Defects Involving GABAergic Neurons.ARX 基因突变导致涉及 GABA 能神经元的几种缺陷。
Front Cell Neurosci. 2010 Mar 11;4:4. doi: 10.3389/fncel.2010.00004. eCollection 2010.
5
Identification of Arx transcriptional targets in the developing basal forebrain.发育中的基底前脑内Arx转录靶点的鉴定
Hum Mol Genet. 2008 Dec 1;17(23):3740-60. doi: 10.1093/hmg/ddn271. Epub 2008 Sep 16.
6
MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions.具有无触角X重复24碱基对突变的MRX87家族及其对聚丙氨酸扩展的影响。
BMC Med Genet. 2007 May 4;8:25. doi: 10.1186/1471-2350-8-25.
7
Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology.对病因不明的巴西智障男性进行ARX基因的突变筛查。
J Hum Genet. 2006;51(8):737-740. doi: 10.1007/s10038-006-0014-4. Epub 2006 Jul 15.
8
Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis.智障家庭中ARX基因的筛查:对分子诊断策略的影响
Neurogenetics. 2006 Mar;7(1):39-46. doi: 10.1007/s10048-005-0014-0. Epub 2005 Oct 19.
9
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene.MRX家族29、32、33和38中的X连锁智力低下(XLMR)是由ARX(无翅相关同源框)基因中的dup24突变引起的。
BMC Med Genet. 2005 Apr 25;6:16. doi: 10.1186/1471-2350-6-16.
10
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.CDKL5基因突变会导致一种伴有婴儿痉挛和智力迟钝的严重神经发育障碍。
Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18.