Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS.
|
31639430 |
2020 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
|
30614526 |
2019 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.Resource table.
|
30312873 |
2018 |
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients.
|
28143435 |
2017 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
|
28808579 |
2017 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
|
27486776 |
2016 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.
|
27788217 |
2016 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Bardet-Biedl Syndrome.
|
27385962 |
2016 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Bardet Biedl syndrome in South Africa: A single founder mutation.
|
27245532 |
2016 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
|
25982971 |
2015 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
|
25982971 |
2015 |
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
MGD |
To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide.
|
26273430 |
2015 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
|
25439097 |
2014 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
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 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.
|
25366773 |
2014 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ∼50% of BBS patients determined mutations only in BBS2, including three novel mutations.
|
24849935 |
2014 |
Bardet-Biedl Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.
|
23403234 |
2013 |
Bardet-Biedl Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.
|
23403234 |
2013 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
In search of triallelism in Bardet-Biedl syndrome.
|
22353939 |
2012 |
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex.
|
22500027 |
2012 |
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
|
22773737 |
2012 |