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Article

Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.

Pediatric research - 1 Jun 2004

Sheffield Val C

Abstract excerpt

Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder with the cardinal features of obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. Other associated clinical findings in BBS patients include diabetes, hypertension, and congenital heart defects. The clinical diagnosis is based on the presence of at least four of the cardinal symptoms. BBS is...

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Source

Identifiers

PMID: 15155861
DOI: 10.1203/01.pdr.0000127013.14444.9c

Genes

BBS1
BBS2
BBS4
BBS7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.PMID 15155861Read ↗

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.Semantic proximity Read ↗

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).Semantic proximity Read ↗

Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.Semantic proximity Read ↗

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.Semantic proximity Read ↗

Variation of the McKusick-Kaufman gene and studies of relationships with common forms of obesity.Semantic proximity Read ↗

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.Semantic proximity Read ↗

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.Semantic proximity Read ↗

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.Semantic proximity Read ↗

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.Semantic proximity Read ↗

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.Semantic proximity Read ↗

Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass.Semantic proximity Read ↗

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.Semantic proximity Read ↗

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