×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
30614526
2019
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
28808579
2017
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
27486776
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
27788217
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Bardet-Biedl Syndrome.
27385962
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Bardet Biedl syndrome in South Africa: A single founder mutation.
27245532
2016
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
GeneticVariation
CLINVAR
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
25982971
2015
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
25982971
2015
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
23591405
2014
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
24041679
2014
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
25366773
2014
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
In search of triallelism in Bardet-Biedl syndrome.
22353939
2012
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
22773737
2012
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Genotype-phenotype correlations in Bardet-Biedl syndrome.
22410627
2012
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
21209035
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
21052717
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
21157496
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
21044901
2011
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
20177705
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
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:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
20805367
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
20472660
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
GeneticVariation
CLINVAR
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
20805367
2010
×
Entrez Id:
79738
Gene Symbol:
BBS10
BBS10
Bardet-Biedl Syndrome
0.700
CausalMutation
CLINVAR
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
19190184
2009