Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Liver anomalies as a phenotype parameter of Bardet-Biedl syndrome

Published:2015-11-24 Issue:4 Volume:89 Page:507-509
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Branfield Day L.¹,Quammie C.²,Héon E.¹³⁴,Bhan A.³⁴,Batmanabane V.³⁴,Dai T.⁴,Kamath B.M.¹²

Affiliation:

1. Department of Medicine; University of Toronto; Toronto Ontario Canada

2. Division of Gastroenterology, Hepatology and Nutrition; The Hospital for Sick Children; Toronto Ontario Canada

3. Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children; Toronto Ontario Canada

4. The Program of Genetics and Genomics Medicine, The Hospital for Sick Children; Toronto Ontario Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference9 articles.

1. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition;Deveault;Hum Mutat,2011

2. Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders;Lewis;Am J Med Genet,1994

3. Liver and kidney disease in ciliopathies;Gunay-Aygun;Am J Med Genet C Semin Med Genet,2009

4. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey;Beales;J Med Genet.,1999

5. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome;Green;N Engl J Med,1989

Cited by 15 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. Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome;2024-03-04

2. Exome sequencing in a Romanian Bardet‐Biedl syndrome cohort revealed an overabundance of causal BBS12 variants;American Journal of Medical Genetics Part A;2023-06-09

3. Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook;Therapeutics and Clinical Risk Management;2023-01

4. Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS);Methods in Cell Biology;2023

5. Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do;Journal of Multidisciplinary Healthcare;2022-09

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