Recurrence of a <scp><i>BBS1</i></scp> variant in <scp>Bardet–Biedl</scp> patients from Prince Edward Island-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Recurrence of a BBS1 variant in Bardet–Biedl patients from Prince Edward Island

Published:2023-08-23 Issue:6 Volume:104 Page:713-715
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Alghaith Fahad A.¹,MacKay Sara²,Wallace Karin³,Locke Jeff⁴,Robitaille Johane M.⁴,Dyack Sarah²⁵,Arts Heleen H.¹

Affiliation:

1. Department of Pathology Dalhousie University Halifax Nova Scotia Canada

2. Maritime Medical Genetics Service IWK Health Centre Halifax Nova Scotia Canada

3. Division of Ophthalmology, Department of Surgery Dalhousie University Halifax Nova Scotia Canada

4. Department of Ophthalmology and Visual Sciences Dalhousie University Halifax Nova Scotia Canada

5. Department of Pediatrics and Medicine Dalhousie University Halifax Nova Scotia Canada

Funder

Dalhousie University

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14418

Reference5 articles.

1. BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

2. Autosomal recessive Bardet–Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders

3. Managing Bardet–Biedl Syndrome—Now and in the Future

4. Evaluation of Complex Inheritance Involving the Most Common Bardet-Biedl Syndrome Locus (BBS1)

5. Ectopic expression of BBS1 rescues male infertility, but not retinal degeneration, in a BBS1 mouse model

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