Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Further support for digenic inheritance in Bardet-Biedl syndrome.
|
12920096 |
2003 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
|
15770229 |
2005 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
|
18032602 |
2007 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
|
20177705 |
2010 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
|
21517826 |
2011 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
|
20876674 |
2011 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
|
23143442 |
2012 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
|
22773737 |
2012 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Choroidal neovascularization in Bardet-Biedl syndrome.
|
23565731 |
2013 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.
|
25170860 |
2014 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
|
23943788 |
2014 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
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.
|
26518167 |
2015 |
Bardet-Biedl syndrome 1 (disorder)
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
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.
|
28143435 |
2017 |