Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS)-Reference-Cited by-同舟云学术

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Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS)

Published:2023 Issue: Volume: Page:125-137
ISSN:0091-679X
Container-title:Methods in Cell Biology
language:
Short-container-title:

Author:

Solarat Carlos,Valverde Diana

Funder

Ministerio de Ciencia e Innovación

European Regional Development Fund

European Commission

Xunta de Galicia

Ministerio de Universidades

Federación Española de Enfermedades Raras

Publisher

Elsevier

Reference49 articles.

1. Bardet-Biedl syndrome as a Chaperonopathy: Dissecting the major role of chaperonin-like BBS proteins (BBS6-BBS10-BBS12);Álvarez-Satta;Frontiers in Molecular Biosciences,2017

2. BBSome component BBS5 is required for cone photoreceptor protein trafficking and outer segment maintenance;Bales;Investigative Ophthalmology & Visual Science,2020

3. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey;Beales;Journal of Medical Genetics,1999

4. Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia;Bennouna-Greene;Clinical Genetics,2011

5. Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 genomes project;Best;Journal of Medical Genetics,2022

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. Clinical features of a novel compound heterozygous genotype of the BBS2 gene: a case report;Journal of International Medical Research;2024-08

2. Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome;Prenatal Diagnosis;2024-06-05

3. Metabolic consequences of skeletal muscle- and liver-specific BBSome deficiency;American Journal of Physiology-Endocrinology and Metabolism;2023-12-01

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