A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing theHMGB1andKATNAL1genes

Published:2014-03-24 Issue:5 Volume:164 Page:1277-1283
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet

Author:

Bartholdi Deborah¹,Stray-Pedersen Asbjørg²³,Azzarello-Burri Silvia¹,Kibaek Maria⁴,Kirchhoff Maria⁵,Oneda Beatrice¹,Rødningen Olaug²,Schmitt-Mechelke Thomas⁶,Rauch Anita¹,Kjaergaard Susanne⁵

Affiliation:

1. Institute of Medical Genetics; University of Zürich; Zurich Switzerland

2. Department of Medical Genetics; Oslo University Hospital; Oslo Norway

3. Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

4. Department of Pediatrics; Odense University Hospital; Odense Denmark

5. Department of Clinical Genetics; University Hospital of Copenhagen, Rigshospitalet; Copenhagen Denmark

6. Pediatric Neurology; Children's Hospital; Lucerne Switzerland

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. An essential role for katanin in severing microtubules in the neuron;Ahmad;J Cell Biol,1999

2. 13q Deletion and central nervous system anomalies: Further insights from karyotype-phenotype analyses of 14 patients;Ballarati;J Med Genet,2007

3. Flexing DNA: HMG-box proteins and their partners;Bianchi;Am J Hum Genet,1998

4. The lack of chromosomal protein Hmg1 does not disrupt cell growth but causes lethal hypoglycaemia in newborn mice;Calogero;Nat Genet,1999

5. De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype;Cirillo;Am J Med Genet Part A,2012

Cited by 26 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. KATNAL2 mutations link ciliary dysfunction to hydrocephalus and autism;Proceedings of the National Academy of Sciences;2024-07-15

2. Loss of Katnal2 leads to ependymal ciliary hyperfunction and autism-related phenotypes in mice;PLOS Biology;2024-05-08

3. Increased burden of rare protein‐truncating variants in constrained, brain‐specific and synaptic genes in extremely impulsively violent males with antisocial personality disorder;Genes, Brain and Behavior;2024-02

4. A Gene-Based Algorithm for Identifying Factors That May Affect a Speaker’s Voice;Entropy;2023-06-02

5. Combinatorial and antagonistic effects of tubulin glutamylation and glycylation on katanin microtubule severing;Developmental Cell;2022-11

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