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BARDET-BIEDL SYNDROME 9

Known as: BBS9 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

2005-2018
024620052018

Related topics

Related topics

8 relations
Autosomal recessive inheritanceBBS9 geneKidney DiseasesMental Retardation
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Broader (1)

Bardet-Biedl Syndrome

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
BARDET-BIEDL SYNDROME 9
Kidney Diseases
Obesity
Autosomal recessive inheritance
Mental Retardation
Retinitis Pigmentosa

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet–Biedl Syndrome 9 (BBS9) deletion
Bardet–Biedl syndrome (BBS) is a recessive disorder characterized by heterogeneous clinical manifestations, including truncal… (More)
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2016
2016
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Bardet-Biedl syndrome (BBS) is a defining ciliopathy, notable for extensive allelic and genetic heterogeneity, almost all of… (More)
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2016
2016
Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome
Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal… (More)
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2015
2015
Structural Characterization of Bardet-Biedl Syndrome 9 Protein (BBS9).
The Bardet-Biedl syndrome protein complex (BBSome) is an octameric complex that transports membrane proteins into the primary… (More)
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2015
2015
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial… (More)
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2014
2014
Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
Bardet–Biedl syndrome (BBS) is a rare ciliopathy disorder that is clinically and genetically heterogeneous with 18 known genes… (More)
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2012
2012
Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects
Bardet-Biedl Syndrome (BBS, MIM#209900) is a genetically heterogeneous disorder with pleiotropic phenotypes that include… (More)
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2010
2010
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disease characterized by retinal dystrophy, polydactyly, obesity, learning… (More)
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2010
2010
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
BACKGROUND Bardet-Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and… (More)
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Highly Cited
2005
Highly Cited
2005
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Bardet-Biedl syndrome (BBS) is an autosomal recessive, genetically heterogeneous, pleiotropic human disorder characterized by… (More)
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