Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Dandy-Walker malformation, genitourinary abnormalities, and intellectual disability in two families

Published:2015-06-24 Issue:11 Volume:167 Page:2503-2507
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Zaki Maha S.¹,Masri Amira²,Gregor Anne³,Gleeson Joseph G.³,Rosti Rasim Ozgur³

Affiliation:

1. Human Genetics and Genome Research Division; Clinical Genetics Department; National Research Centre; Cairo Egypt

2. Division of Child Neurology; Faculty of Medicine; Department of Pediatrics; The University of Jordan; Amman Jordan

3. Laboratory for Pediatric Brain Diseases; Howard Hughes Medical Institute; The Rockefeller University; New York New York

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. Further delineation of the acro-renal-ocular syndrome;Aalfs;Am J Med Genet Part A,1996

2. SALL1 mutation analysis in Townes-Brocks syndrome: Twelve novel mutations and expansion of the phenotype;Botzenhart;Hum Mutat,2005

3. Townes-Brocks syndrome: Twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region;Botzenhart;Hum Mutat,2007

4. Townes-Brocks syndrome in two mentally retarded youngsters;Cameron;Am J Med Genet Part A,1991

5. Sall1 regulates cortical neurogenesis and laminar fate specification in mice: Implications for neural abnormalities in Townes-Brocks syndrome;Harrison;Dis Model Mech,2012

Cited by 8 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. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;Fluids and Barriers of the CNS;2024-03-04

2. The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact;2023-12-04

3. Novel association of Dandy–Walker malformation with CAPN15 variants expands the phenotype of oculogastrointestinal neurodevelopmental syndrome;American Journal of Medical Genetics Part A;2023-08-19

4. Clinical Aspects of the Inherited Cerebellar Malformations;Contemporary Clinical Neuroscience;2023

5. Malformación de Dandy-Walker asociada a malformaciones extracraneales en un neonato;Archivos Argentinos de Pediatria;2021-10-01

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