×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
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
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
27659767
2017
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
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
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations.
26261414
2015
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
23943788
2014
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.
25170860
2014
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Choroidal neovascularization in Bardet-Biedl syndrome.
23565731
2013
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.
23143442
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Genotype-phenotype correlations in Bardet-Biedl syndrome.
22410627
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
22773737
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
22940089
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
22581970
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
In search of triallelism in Bardet-Biedl syndrome.
22353939
2012
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
21052717
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.
21520335
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.
21517826
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
20876674
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
21052717
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
21344540
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
21642631
2011
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
20498079
2010
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
CausalMutation
CLINVAR
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
19797195
2010
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20120035
2010
×
Entrez Id:
582
Gene Symbol:
BBS1
BBS1
Bardet-Biedl syndrome 1 (disorder)
0.940
GeneticVariation
CLINVAR
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
20177705
2010