Bardet-Biedl Syndrome

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

C16.131.077.112

Concept/Terms

Bardet-Biedl Syndrome

Below are MeSH descriptors whose meaning is more general than "Bardet-Biedl Syndrome".

Diseases [C]
Nervous System Diseases [C10]
Central Nervous System Diseases [C10.228]
Brain Diseases [C10.228.140]
Hypothalamic Diseases [C10.228.140.617]
Bardet-Biedl Syndrome [C10.228.140.617.200]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Bardet-Biedl Syndrome [C16.131.077.112]

Below are MeSH descriptors whose meaning is related to "Bardet-Biedl Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Bardet-Biedl Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Bardet-Biedl Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Bardet-Biedl Syndrome" was a major or minor topic of these publication.

Bar chart showing 33 publications over 19 distinct years, with a maximum of 4 publications in 2014

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1999	1	0	1
2001	2	0	2
2002	1	0	1
2003	2	0	2
2007	0	1	1
2008	0	1	1
2009	1	1	2
2010	2	1	3
2011	1	0	1
2012	1	0	1
2013	0	1	1
2014	3	1	4
2015	1	0	1
2016	0	1	1
2017	2	0	2
2019	2	0	2
2020	2	1	3
2022	1	0	1
2023	3	0	3

Below are the most recent publications written about "Bardet-Biedl Syndrome" by people in Profiles.

Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families. Mol Biol Rep. 2023 Dec; 50(12):9963-9970.

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Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees. Genes (Basel). 2023 02 03; 14(2).

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Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS). Methods Cell Biol. 2023; 176:125-137.

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Multi-Omics Studies Unveil Extraciliary Functions of BBS10 and Show Metabolic Aberrations Underlying Renal Disease in Bardet-Biedl Syndrome. Int J Mol Sci. 2022 Aug 20; 23(16).

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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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The morbid genome of ciliopathies: an update. Genet Med. 2020 06; 22(6):1051-1060.

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Structure and activation mechanism of the BBSome membrane protein trafficking complex. Elife. 2020 01 15; 9.

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Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. Exp Eye Res. 2019 12; 189:107825.

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Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model. Sci Rep. 2019 09 10; 9(1):12936.

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Sleep disordered breathing in Bardet-Biedl Syndrome. Int J Pediatr Otorhinolaryngol. 2017 Nov; 102:127-132.

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