Bardet-Biedl syndrome 4 (disorder)

Known as: BARDET-BIEDL SYNDROME 4, BBS4 
 
National Institutes of Health

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Abnormal renal morphologyAutosomal recessive inheritanceBrachydactylyCryptorchidism
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Bardet-Biedl Syndrome

Papers overview

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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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2009
2009
Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions.
Bardet-Biedl syndrome is a heterogeneous disorder causing a spectrum of symptoms, including visual impairment, kidney disease… (More)
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Highly Cited
2008
Highly Cited
2008
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and… (More)
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2007
2007
Differences in renal tubule primary cilia length in a mouse model of Bardet-Biedl syndrome.
BACKGROUND Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder that comprises numerous features, including renal… (More)
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2005
2005
Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.
Bardet-Biedl syndrome is a genetically heterogeneous multisystem disorder that causes severe visual impairment. Retinitis… (More)
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2003
2003
Further support for digenic inheritance in Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterised by the primary features of obesity, retinal… (More)
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Highly Cited
2002
Highly Cited
2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy… (More)
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2002
2002
Behavioural phenotype of Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS), also known as Laurence-Moon-Bardet-Biedl syndrome (LMBBS), has long been regarded as an autosomal… (More)
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Highly Cited
2002
Highly Cited
2002
BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.
Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity… (More)
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Highly Cited
2001
Highly Cited
2001
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary… (More)
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