|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
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
|
|
0.750 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
|
30718709 |
2019 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
We document a female affected with BBS carrying the most common BBS1 mutation (BBS1: Met390Arg) on the maternal allele and an insertion of a ~1.7-kb retrotransposon in exon 13 on the paternal allele.
|
30484961 |
2019 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.
|
30142598 |
2018 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.
|
27032803 |
2016 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS disease cases, fails to interact with ARL6-GTP, thus providing a molecular rationale for patient pathologies.
|
25402481 |
2014 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant.
|
23143442 |
2012 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
As exemplified in this study by the identification of a homozygous p.M390R variant in a control individual and in unaffected parents of BBS patients in other studies, cis - or trans -acting modifiers may influence the disease phenotype.
|
23143442 |
2012 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
GeneticVariation
|
BEFREE |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.
|
22581970 |
2012 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.
|
22940089 |
2012 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.
|
18669544 |
2009 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.
|
18766993 |
2008 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
|
17980398 |
2008 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.
|
18032602 |
2007 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
|
15314642 |
2004 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
|
12524598 |
2003 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.
|
12837689 |
2003 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.
|
12677556 |
2003 |
|
Bardet-Biedl Syndrome
|
|
0.750 |
CausalMutation
|
CLINVAR |
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
|
12118255 |
2002 |