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Bardet-Biedl syndrome 3

Known as: BBS3 
 
National Institutes of Health

Related topics

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9 relations
Abnormal renal morphologyAutosomal recessive inheritanceBrachydactylyCongenital hypoplasia of kidney
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Bardet-Biedl Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Bardet-Biedl syndrome 3 regulates the development of cranial base midline structures.
Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder and is classified as one of the ciliopathy. The patients manifest… Expand
Highly Cited
2014
Highly Cited
2014
Basal body proteins regulate Notch signaling through endosomal trafficking
ABSTRACT Proteins associated with primary cilia and basal bodies mediate numerous signaling pathways, but little is known about… Expand
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Highly Cited
2011
Highly Cited
2011
Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes
Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital… Expand
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Highly Cited
2011
Highly Cited
2011
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
Many signaling proteins including G protein-coupled receptors localize to primary cilia, regulating cellular processes including… Expand
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2011
2011
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous… Expand
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Highly Cited
2003
Highly Cited
2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly… Expand
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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… Expand
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2000
2000
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
Bardet-Biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial… Expand
Highly Cited
1997
Highly Cited
1997
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental… Expand
Highly Cited
1997
Highly Cited
1997
Noise, sampling, and efficient genetic algorthms
As genetic algorithms (GA) move into industry, a thorough understanding of how GAs are affected by noise is becoming increasingly… Expand
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