Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

BBS mutational analysis: a strategic approach.

Ophthalmic genetics - 1 Sept 2011

Billingsley Gail, Deveault Catherine, Héon Elise

Abstract excerpt

BACKGROUND: Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive, clinically and genetically heterogeneous disorder with 15 genes identified. The large amount of coding sequence challenges the cost effectiveness of mutational analysis of BBS. MATERIAL AND METHODS: We present our mutational analysis experience (83 BBS families) in the context of the literature published up to September 2010, to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Bardet-Biedl Syndrome
Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to BBS1 gene

Share to Genotype

Share to Mutation

Share to Polymorphism, Single-Stranded Conformational

Share to Proteins

Source

Identifiers

PMID: 21463199
DOI: 10.3109/13816810.2011.567319

Genes

BBS1
BBS10
BBS12
BBS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

BBS mutational analysis: a strategic approach.PMID 21463199Read ↗

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.Semantic proximity Read ↗

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.Semantic proximity Read ↗

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.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 ↗

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.Semantic proximity Read ↗

Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.Semantic proximity Read ↗

Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl SyndromeSemantic proximity Read ↗

Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.Semantic proximity Read ↗

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

Exome Sequencing in 9 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet-Biedl Syndrome.Semantic proximity Read ↗

Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.Semantic proximity Read ↗

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.