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

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].

Medicina clinica - 21 Aug 2015

Castro-Sánchez Sheila, Álvarez-Satta María, Pereiro Inés, Piñeiro-Gallego M Teresa, Valverde Diana

Abstract excerpt

BACKGROUND AND OBJECTIVE: Bardet-Biedl syndrome (BBS) is a multisystemic genetic disorder, which is not widespread among the Caucasian population, characterized by a highly variable phenotype and great genetic heterogeneity. BBS belongs to a group of diseases called ciliopathies, caused by defects in the structure and/or function of cilia. Due to the diagnostic complexity of the syndrome, the objective of this...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Bardet-Biedl Syndrome
Share to Cilia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Consanguinity

Share to Ethnicity

Share to Genetic Heterogeneity

Share to Oligonucleotide Array Sequence Analysis

Source

Identifiers

PMID: 25087209
DOI: 10.1016/j.medcli.2014.05.037

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Algorithm for the molecular analysis of Bardet-Biedl syndrome in Spain].PMID 25087209Read ↗

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.Semantic proximity Read ↗

Clinical and molecular diagnosis of Bardet-Biedl syndrome (BBS).Semantic proximity Read ↗

Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.Semantic proximity Read ↗

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.Semantic proximity Read ↗

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.Semantic proximity Read ↗

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.Semantic proximity Read ↗

Molecular and Phenotypic Characteristics of Bardet-Biedl Syndrome in Chinese PatientsSemantic proximity Read ↗

Investigation of genetic variants causing Bardet–Biedl syndrome in Iranian families: Identification of a founder mutation in BBS2, p.T157TSemantic proximity Read ↗

Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.Semantic proximity Read ↗

Allelic overload and its clinical modifier effect in Bardet-Biedl syndromeSemantic proximity Read ↗

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.Semantic proximity Read ↗

Bardet-Biedl syndrome: A rare genetic diseaseSemantic proximity Read ↗

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