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Bardet-Biedl syndrome 3
Known as:
BBS3
National Institutes of Health
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Related topics
Related topics
9 relations
Abnormal renal morphology
Autosomal recessive inheritance
Brachydactyly
Congenital hypoplasia of kidney
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Broader (1)
Bardet-Biedl Syndrome
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2014
Highly Cited
2014
Basal body proteins regulate Notch signaling through endosomal trafficking
C. C. Leitch
,
S. Lodh
,
Victoria Prieto-Echagüe
,
J. Badano
,
N. Zaghloul
Journal of Cell Science
2014
Corpus ID: 19770562
ABSTRACT Proteins associated with primary cilia and basal bodies mediate numerous signaling pathways, but little is known about…
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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
Qihong Zhang
,
D. Nishimura
,
+7 authors
V. Sheffield
Proceedings of the National Academy of Sciences
2011
Corpus ID: 10198531
Bardet-Biedl syndrome (BBS) is a heterogeneous disorder characterized by obesity, retinopathy, polydactyly, and congenital…
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Highly Cited
2011
Highly Cited
2011
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
Seongjin Seo
,
Qihong Zhang
,
+4 authors
V. Sheffield
PLoS genetics
2011
Corpus ID: 15170880
Many signaling proteins including G protein-coupled receptors localize to primary cilia, regulating cellular processes including…
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2011
2011
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration
P. Pretorius
,
M. Aldahmesh
,
F. Alkuraya
,
V. Sheffield
,
D. Slusarski
Human molecular genetics
2011
Corpus ID: 17554688
Bardet–Biedl syndrome (BBS) is a syndromic form of retinal degeneration. Recently, homozygosity mapping with a consanguineous…
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Highly Cited
2003
Highly Cited
2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
K. Mykytyn
,
D. Nishimura
,
+18 authors
V. Sheffield
American journal of human genetics
2003
Corpus ID: 10941594
Bardet-Biedl syndrome (BBS) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly…
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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
K. Mykytyn
,
D. Nishimura
,
+17 authors
V. Sheffield
Nature Genetics
2002
Corpus ID: 29915446
Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy…
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2000
2000
Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.
M. Ghadami
,
H. Tomita
,
+5 authors
N. Niikawa
American journal of medical genetics
2000
Corpus ID: 29779416
Bardet-Biedl syndrome (BBS) is a group of autosomal recessive MCA/MR syndromes characterized by pigmentary retinopathy, postaxial…
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Review
1999
Review
1999
Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.
M. Woods
,
T. Young
,
P. Parfrey
,
D. Hefferton
,
J. Green
,
W. Davidson
Genomics
1999
Corpus ID: 25574975
Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive disease characterized by retinal dystrophy, renal structural…
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Highly Cited
1997
Highly Cited
1997
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
P. Beales
,
A. Warner
,
G. Hitman
,
R. Thakker
,
F. Flinter
Journal of medical genetics
1997
Corpus ID: 1729569
The autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal degeneration, polydactyly, obesity, mental…
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Highly Cited
1997
Highly Cited
1997
Noise, sampling, and efficient genetic algorthms
B. L. Miller
1997
Corpus ID: 106437305
As genetic algorithms (GA) move into industry, a thorough understanding of how GAs are affected by noise is becoming increasingly…
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