Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1)

Published:2004-09-08 Issue:4 Volume:66 Page:318-326
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Kleefstra T,Franken CE,Arens YHJM,Ramakers GJA,Yntema HG,Sistermans EA,Hulsmans CFCH,Nillesen WN,Van Bokhoven H,De Vries BBA,Hamel BCJ

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2004.00308.x/fullpdf

Reference28 articles.

1. XLMR Genes: update 2000;Chiurazzi;Eur J Hum Genet,2001

2. Nonsyndromic X-linked mental retardation: where are the missing mutations?;Ropers;Trends Genet,2003

3. Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation;Shoichet;Am J Hum Genet,2003

4. Mutations in the Polyglutamine Binding Protein 1 gene cause X-linked mental retardation;Kalscheuer;Nat Genet,2003

5. Clinical and molecular contributions to the understanding of X-linked mental retardation;Stevenson;Cytogenet Genome Res,2002

Cited by 37 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. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome;Molecular Psychiatry;2023-11-29

2. The role of PQBP1 in neural development and function;Biochemical Society Transactions;2023-02-23

3. Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome;2022-05-30

4. A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation;Applied Neuropsychology: Child;2021-09-01

5. Comparative Transcriptomics Reveals the Molecular Genetic Basis of Cave Adaptability in Sinocyclocheilus Fish Species;Frontiers in Ecology and Evolution;2020-10-16

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