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BARDET-BIEDL SYNDROME 8

Known as: BBS8 
National Institutes of Health

Related topics

Related topics

12 relations
Autosomal recessive inheritanceBrachycephalyDevelopmental delay (disorder)Hypogonadism

Broader (1)

Bardet-Biedl Syndrome

Papers overview

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2019
2019
Absence of BBSome function leads to astrocyte reactivity in the brain
In humans, dysfunctional primary cilia result in Bardet-Biedl syndrome (BBS), which presents with clinical features including… 
Highly Cited
2017
Highly Cited
2017
BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment
Genetic mutations disrupting the structure and function of primary cilia cause various inherited retinal diseases in humans… 
2017
2017
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Purpose To investigate the molecular basis of Bardet-Biedl syndrome (BBS) in five consanguineous families of Pakistani origin… 
2016
2016
PARP inhibition preserves photoreceptors in different Pde6a mutant animal models for Retinitis Pigmentosa
These abstracts are licensed under a Creative Commons Attribution-NonCommercial-No Derivatives 4.0 International License. Go to… 
2009
2009
A functional and therapeutic investigation of ciliopathy proteins and ciliopathies
This thesis aims to investigate new functions for ciliopathy proteins and identify candidates for therapeutic application. The… 
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