|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
|
28808579 |
2017 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
|
23219996 |
2013 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
|
22958920 |
2012 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
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 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
|
20876674 |
2011 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
|
21157496 |
2011 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
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 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
|
21344540 |
2011 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
|
20120035 |
2010 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
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 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
|
20472660 |
2010 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
CLINVAR |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.
|
16823392 |
2006 |
|
BARDET-BIEDL SYNDROME 10
|
|
0.800 |
GeneticVariation
|
UNIPROT |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |