Haploinsufficiency ofANO6, NELL2andDBX2in a boy with intellectual disability and growth delay-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Haploinsufficiency ofANO6, NELL2andDBX2in a boy with intellectual disability and growth delay

Published:2015-04-06 Issue:8 Volume:167 Page:1890-1896
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Carlsen Ellen Ø.¹,Frengen Eirik¹,Fannemel Madeleine¹,Misceo Doriana¹

Affiliation:

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

Funder

Ella og Kristian Nyerrøds stiftelse for medisinsk forskning

University of Oslo Research Fund (UNIFOR)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37079/fullpdf

Reference26 articles.

1. A family with a 1.17 Mb deletion of 12q12: Refining genotype-phenotype correlation;Adam;Am J Med Genet Part A,2010

2. A neuron-specific EGF family protein, NELL2, promotes survival of neurons through mitogen-activated protein kinases;Aihara;Brain Res Mol Brain Res,2003

3. Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome;Castoldi;Blood,2011

4. 12q12 deletion: A new patient contributing to genotype-phenotype correlation;Failla;Am J Med Genet Part A,2008

5. NELL2, a neuron-specific EGF-like protein, is selectively expressed in glutamatergic neurons and contributes to the glutamatergic control of GnRH neurons at puberty;Ha;Neuroendocrinology,2008

Cited by 12 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. Limb development genes underlie variation in human fingerprint patterns;Cell;2022-01

2. Case Report: Two New Cases of Chromosome 12q14 Deletions and Review of the Literature;Frontiers in Genetics;2021-09-01

3. Loss of histone methyltransferase ASH1L in the developing mouse brain causes autistic-like behaviors;Communications Biology;2021-06-18

4. Dbx2 regulation in limbs suggests inter TAD sharing of enhancers;Developmental Dynamics;2021-03

5. HOX13-MEDIATED DBX2 REGULATION IN LIMBS SUGGESTS INTER-TAD SHARING OF ENHANCERS;2020-11-17

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