Condition: BARDET-BIEDL SYNDROME 10


rs1057517031 in BBS10 gene and BARDET-BIEDL SYNDROME 10 PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 25988237 2016 Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

PMID 21463199 2011 BBS mutational analysis: a strategic approach.

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

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

PMID 23219996 2013 Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

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

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 28808579 2017 A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

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

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

PMID 26003401 2015 Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

PMID 27788217 2016 Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PMID 24400638 2015 Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

PMID 24746959 2014 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

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

PMID 17106446 2007 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

PMID 21044901 2011 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 27894351 2016 Characterizing the morbid genome of ciliopathies.

PMID 24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

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

PMID 25170860 2014 Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 27959697 2017 Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 25982971 2015 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed 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 22958920 2012 BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 24041679 2014 Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

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.