C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies-Reference-Cited by-同舟云学术

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C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

Published:2016-02-08 Issue:3 Volume:37 Page:290-293
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Khan Arif O.¹²,Decker Eva³,Bachmann Nadine³,Bolz Hanno J.³⁴,Bergmann Carsten³⁵

Affiliation:

1. Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE

2. Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia

3. Center for Human Genetics, Bioscientia, Ingelheim, Germany

4. Institute of Human Genetics, University of Cologne, Cologne, Germany

5. Department of Medicine, University of Freiburg Medical Center, Freiburg, Germany

Funder

Deutsche Forschungsgemeinschaft

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.3109/13816810.2015.1066830

Reference20 articles.

1. Ciliopathies

2. The primary cilium: a signalling centre during vertebrate development

3. Educational paper

4. Bardet–Biedl syndrome

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

2. The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia;Genes;2024-06-11

3. Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction;Diabetes, Obesity and Metabolism;2024-02

4. Disruption of CFAP418 interaction with lipids causes widespread abnormal membrane-associated cellular processes in retinal degenerations;JCI Insight;2024-01-09

5. Organization, functions, and mechanisms of the BBSome in development, ciliopathies, and beyond;eLife;2023-07-19

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