Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation

Published:2005-08-03 Issue:1 Volume:118 Page:45-48
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Poirier K.,Abriol J.,Souville I.,Laroche-Raynaud C.,Beldjord C.,Gilbert B.,Chelly J.,Bienvenu T.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-005-0011-2.pdf

Reference11 articles.

1. Bienvenu T, Poirier K, Friocourt G, Ben Jeema L, Zemni R, Beaumont D, Vinet MC, Bahi N, Couvert P, Francis F, Desportes V, Moraine C, Van Bockhoven H, Kalscheuer V, Frints S, Gecz J, Chaabouni H, Fryns JP, Beldjord C, Chelly J (2002) ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 11:981–991

2. Gronskov K, Hjalgrim H, Nielsen IM, Brondum-Nielsen K (2004) Screening of the ARX gene in 682 retarded males. Eur J Hum Genet 12:701–705

3. Kato M, Das S, Petras K, Kitamura K, Morohashi KI, Abuelo DN, Barr M, Bonneau D, Brady AF, Carpenter NJ, Cipero KL, Frisone F, Fukuda T, Guerrini R, Iida E, Itoh M, Feldman Lewanda A, 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 (2004) Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation. Hum Mutat 23:147–159

4. Kitamura K, Yanazawa M, Sugiyama N, Miura H, Iizuka-Kogo A, Kusaka M, Omichi K, Kato-Fukui Y, Mamiirisa K, Matsuo M, Kamijo SI, Kasahara M, Yoshioka H, Ogata T, Fukuda T, Kondo I, Kato M, Dobyns WB, Yokoyama M, Morohashi KI (2002) Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. Nat Genet 32:359–369

5. Miura H, Yanazawa M, Kato K, Kitamura K (1997) Expression of a novel aristaless related homeobox gene ‘ARX’ in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev 65:99–109

Cited by 19 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Inherited Developmental and Epileptic Encephalopathies;Neurology International;2021-11-03

2. Molecular mechanisms underlying nucleotide repeat expansion disorders;Nature Reviews Molecular Cell Biology;2021-06-17

3. Aristaless-Related Homeobox (ARX): Epilepsy Phenotypes beyond Lissencephaly and Brain Malformations;Journal of Pediatric Neurology;2021-04-13

4. Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience;Molecular Case Studies;2020-05-05

5. Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy;Neurobiology of Disease;2017-09

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号京ICP备18003416号-3