Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study-Reference-Cited by-同舟云学术

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

Published:2005 Issue:4 Volume:132A Page:352-360
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Moore Susan J.,Green Jane S.,Fan Yanli,Bhogal Ashvinder K.,Dicks Elizabeth,Fernandez Bridget A.,Stefanelli Mark,Murphy Christopher,Cramer Benvon C.,Dean John C.S.,Beales Philip L.,Katsanis Nicholas,Bassett Anne S.,Davidson William S.,Parfrey Patrick S.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference52 articles.

1. Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

2. 1971. The Edinburgh Articulation Test. London: E&S Livingstone. pp 7-30.

3. Identification of a Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with BBS1 and BBS2

4. Behavioural phenotype of Bardet-Biedl syndrome

Cited by 242 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. Das Bardet-Biedl-Syndrom;Monatsschrift Kinderheilkunde;2024-09-04

2. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations;European Journal of Human Genetics;2024-07-31

3. Adipocyte-specific disruption of the BBSome causes metabolic and autonomic dysfunction;American Journal of Physiology-Regulatory, Integrative and Comparative Physiology;2024-07-01

4. Persistent Urogenital Sinus Leading to Hydrometrocolpos in a Female Child With Features of McKusick-Kaufman Syndrome;Cureus;2024-06-08

5. Verbesserte Versorgungs-und Behandlungsoptionen für Patienten mit Hyperphagie-assoziierter Adipositas bei Bardet-Biedl-Syndrom;Klinische Pädiatrie;2024-03-08