"Bardet-Biedl Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
| Descriptor ID |
D020788
|
| MeSH Number(s) |
C10.228.140.617.200 C16.131.077.245.125 C16.320.184.125
|
| Concept/Terms |
Bardet-Biedl Syndrome- Bardet-Biedl Syndrome
- Bardet Biedl Syndrome
- Syndrome, Bardet-Biedl
- Laurence-Moon-Bardet-Biedl Syndrome
- Laurence Moon Bardet Biedl Syndrome
- Syndrome, Laurence-Moon-Bardet-Biedl
|
Below are MeSH descriptors whose meaning is more general than "Bardet-Biedl Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bardet-Biedl Syndrome".
This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in this website by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1999 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 3 | 0 | 3 |
| 2002 | 1 | 0 | 1 |
| 2003 | 2 | 0 | 2 |
| 2004 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 1 | 0 | 1 |
| 2009 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2013 | 1 | 1 | 2 |
| 2014 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2022 | 1 | 0 | 1 |
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Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles.
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Critical review of bariatric surgical outcomes in patients with Prader-Willi syndrome and other hyperphagic disorders. Obesity (Silver Spring). 2022 05; 30(5):973-981.
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Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy. Nat Genet. 2020 11; 52(11):1145-1150.
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Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy. Proc Natl Acad Sci U S A. 2019 11 19; 116(47):23562-23572.
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Visual Diagnosis: Visual Impairment, Polydactyly, and Obesity: Red Flags in a Child. Pediatr Rev. 2018 May; 39(5):e21-e23.
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Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. Hum Mol Genet. 2018 01 15; 27(2):283-294.
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DISCOVERY OF FUNCTIONAL AND DISEASE PATHWAYS BY COMMUNITY DETECTION IN PROTEIN-PROTEIN INTERACTION NETWORKS. Pac Symp Biocomput. 2017; 22:336-347.
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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. Am J Hum Genet. 2016 08 04; 99(2):318-36.
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Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 01; 94(5):745-54.
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[Current status and implication of research on Bardet-Biedl syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Oct; 30(5):570-3.
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Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes. Dev Cell. 2013 Jun 24; 25(6):623-35.