Condition: Bardet-Biedl syndrome 2 (disorder)


rs121908174 in BBS2 gene and Bardet-Biedl syndrome 2 (disorder) PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 11285252 2001 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

PMID 12872256 2003 Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 28143435 2017 Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 15666242 2005 Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

PMID 27659767 2017 Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 16877420 2006 Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

PMID 24608809 2014 Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 25541840 2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

PMID 25999675 2015 Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 26078953 2015 Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 14520415 2003 Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

PMID 30293640 2019 Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.

PMID 26325687 2015 The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.