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Bardet-Biedl syndrome 4 (disorder)

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

Papers overview

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Highly Cited
2013
Highly Cited
2013
The primary cilium is a microtubule-based organelle that functions in sensory and signalling pathways. Defects in ciliogenesis… Expand
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Highly Cited
2013
Highly Cited
2013
The BBSome, a regulator of ciliary membrane protein composition, is required only for the export phase of a process that… Expand
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Highly Cited
2010
Highly Cited
2010
Background Bardet–Biedl syndrome is a pleiotropic disorder with 14 BBS genes identified. BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and… Expand
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Highly Cited
2008
Highly Cited
2008
Bardet-Biedl syndrome (BBS) is a heterogeneous genetic disorder characterized by many features, including obesity and… Expand
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Highly Cited
2007
Highly Cited
2007
Primary cilia and basal bodies are evolutionarily conserved organelles that mediate communication between the intracellular and… Expand
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Highly Cited
2005
Highly Cited
2005
Necdin and Magel2 are related proteins inactivated in Prader-Willi syndrome (PWS), a sporadic chromosomal deletion disorder. We… Expand
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Highly Cited
2004
Highly Cited
2004
Defects in cilia are associated with several human disorders, including Kartagener syndrome, polycystic kidney disease… Expand
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Highly Cited
2002
Highly Cited
2002
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy… Expand
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Highly Cited
2002
Highly Cited
2002
Bardet-Biedl syndrome (BBS) is an uncommon multisystemic disorder characterized primarily by retinal dystrophy, obesity… Expand
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Highly Cited
2001
Highly Cited
2001
Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary… Expand
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