|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus, it was concluded that the structural variant identified in the GP9 gene was most likely causative for the BSS-phenotype in the dogs examined.
|
31484196 |
2019 |
|
Bernard-Soulier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene.
|
28395735 |
2017 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.
|
28650483 |
2017 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene.
|
27346198 |
2016 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene.
|
27934591 |
2016 |
|
Bernard-Soulier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
|
25370924 |
2015 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
In 15 patients with Bernard-Soulier syndrome from Western India, we amplified the entire coding sequences of GP1BA, GP1BB and GP9 genes and directly sequenced them.
|
23995613 |
2014 |
|
Bernard-Soulier Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Platelets from BSS patients are typically defective in surface expression of glycoprotein (GP)Ib-IX-V, a platelet-specific adhesion-signaling complex, composed of GPIbα disulfide linked to GPIbβ, and noncovalently associated with GPIX and GPV.
|
23929303 |
2013 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Bernard-Soulier syndrome (BSS) is an extremely rare form of platelet adhesion disorder caused by genetic changes occurring in the glycoprotein genes GPIbα, GPIbβ and GPIX with autosomal recessive inheritance pattern.
|
23402648 |
2013 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Bernard-Soulier syndrome (BSS) is an extremely rare form of platelet adhesion disorder caused by genetic changes occurring in the glycoprotein genes GPIbα, GPIbβ and GPIX with autosomal recessive inheritance pattern.
|
23402648 |
2013 |
|
Bernard-Soulier Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetics of familial forms of thrombocytopenia.
|
22886561 |
2012 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
This may account for the mild bleeding phenotype of the BSS variant characterized by a non-sense mutation in GPIX.
|
23143686 |
2012 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This may account for the mild bleeding phenotype of the BSS variant characterized by a non-sense mutation in GPIX.
|
23143686 |
2012 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Quaternary organization of GPIb-IX complex and insights into Bernard-Soulier syndrome revealed by the structures of GPIbβ and a GPIbβ/GPIX chimera.
|
21908432 |
2011 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
|
21173099 |
2011 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bernard-Soulier syndrome.
|
21357716 |
2011 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
|
21699652 |
2011 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Novel Mutation in Bernard-Soulier Syndrome.
|
21113250 |
2010 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
GPIbα, GPIbβ, and GPIX are three candidate genes for a rare genetic bleeding disorder named Bernard Soulier syndrome (BSS).
|
19484238 |
2010 |
|
Bernard-Soulier Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
The laboratory parameters which are characteristically for BSS such as platelet count, platelet volume and the expression of CD42a (GPIX), CD42b (GPIbalpha) and CD41 (GPIIb) were measured for all 38 individuals.
|
19404517 |
2009 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
Genetic characterization of patients with Bernard-Soulier syndrome and their relatives from Southern Iran.
|
17763149 |
2007 |
|
Bernard-Soulier Syndrome
|
0.800 |
Biomarker
|
disease |
CLINGEN |
Identification of inherited macrothrombocytopenias based on mean platelet volume among patients diagnosed with idiopathic thrombocytopenia.
|
16916536 |
2007 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
LHGDN |
This is the first non-Caucasian Turkish BSS case due to GPIX N45S and is likely the result of a recurrent mutational event.
|
17804902 |
2007 |
|
Bernard-Soulier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Haplotype analysis revealed that the family had the same disease haplotype associated with the GPIX N45S commonly found in Northern European BSS.
|
17804902 |
2007 |