Bardet-Biedl Syndrome

Known as: Laurence-Moon-Bardet-Biedl Syndrome, Syndrome, Bardet-Biedl, BBS 
An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of… (More)
National Institutes of Health

Papers overview

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Highly Cited
2010
Highly Cited
2010
The BBSome is a complex of Bardet-Biedl Syndrome (BBS) proteins that shares common structural elements with COPI, COPII, and… (More)
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Review
2009
Review
2009
Bardet-Biedl syndrome (BBS) is a multisystemic disorder typified by developmental and progressive degenerative defects. A… (More)
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Highly Cited
2008
Highly Cited
2008
Meckel-Gruber syndrome (MKS) is a genetically heterogeneous, neonatally lethal malformation and the most common form of syndromic… (More)
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Review
2006
Review
2006
From a handful of uncloned genetic loci 6 years ago, great strides have been made in understanding the genetic and molecular… (More)
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Highly Cited
2005
Highly Cited
2005
The evolutionarily conserved planar cell polarity (PCP) pathway (or noncanonical Wnt pathway) drives several important cellular… (More)
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Highly Cited
2005
Highly Cited
2005
McKusick-Kaufman syndrome (MKS) is an autosomal recessive disorder characterized by post-axial polydactyly, congenital heart… (More)
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Highly Cited
2001
Highly Cited
2001
Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by multiple clinical features that include… (More)
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Highly Cited
2000
Highly Cited
2000
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. None of the 'responsible' genes have… (More)
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Highly Cited
2000
Highly Cited
2000
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder predominantly characterized by obesity, retinal dystrophy… (More)
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Highly Cited
1989
Highly Cited
1989
To determine the interfamilial and intrafamilial variation in the expression of the Bardet-Biedl syndrome (a form of Laurence… (More)
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