Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy.
|
30293640 |
2019 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
|
27659767 |
2017 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.
|
27659767 |
2017 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
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 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Characterizing the morbid genome of ciliopathies.
|
27894351 |
2016 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Characterizing the morbid genome of ciliopathies.
|
27894351 |
2016 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
|
25999675 |
2015 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
|
26325687 |
2015 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.
|
25412400 |
2015 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
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 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation in BBS2 Gene in a Family with Bardet-Biedl Syndrome.
|
26078953 |
2015 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.
|
25541840 |
2015 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
|
24608809 |
2014 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Carrier frequency of two BBS2 mutations in the Ashkenazi population.
|
23829372 |
2014 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.
|
24608809 |
2014 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in Bardet-Biedl syndrome.
|
22410627 |
2012 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
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 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
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 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
Bardet-Biedl syndrome 2 (disorder)
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |