Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1

Published:2013-12 Issue:4 Volume:53 Page:155-159
ISSN:0914-3505
Container-title:Congenital Anomalies
language:en
Short-container-title:Congenital Anomalies

Author:

Shimojima Keiko¹,Shimada Shino¹,Sugawara Midori¹,Yoshikawa Naomi²,Niijima Shinichi²,Urao Masahiko³,Yamamoto Toshiyuki¹

Affiliation:

1. Institute for Integrated Medical Sciences; Tokyo Women's Medical University; Tokyo Japan

2. Department of Pediatrics; Juntendo University Nerima Hospital; Tokyo Japan

3. Department of Pediatrics Surgery; Juntendo University Nerima Hospital; Tokyo Japan

Publisher

Wiley

Subject

Developmental Biology,Embryology,General Medicine,Pediatrics, Perinatology and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1741-4520.2012.00384.x/fullpdf

Reference17 articles.

1. Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I);Chetty-John;Am J Med Genet A,2010

2. Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification;Ferrante;Nat Genet,2006

3. X-inactivation and human disease: X-linked dominant male-lethal disorders;Franco;Curr Opin Genet Dev,2006

4. Oral-facial-digital syndromes: review and diagnostic guidelines;Gurrieri;Am J Med Genet A,2007

5. The androgen receptor CAG repeat polymorphism and X-chromosome inactivation in Australian Caucasian women with infertility related to polycystic ovary syndrome;Hickey;J Clin Endocrinol Metab,2002

Cited by 3 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. Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait;Human Genome Variation;2024-05-15

2. X-chromosome inactivation and its implications for human disease;2017-03-07

3. Tooth agenesis and orofacial clefting: genetic brothers in arms?;Human Genetics;2016-10-03

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