|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hereditary Factor XI Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.
|
31064749 |
2019 |
|
Hereditary Factor XI Deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
Hemostatic defect of patients with deficient MP-mediated coagulation resembles deficiency of FXI (hemophilia C), distinct from hemophilia A or B, so can be termed type C hemostasis.
|
31195421 |
2019 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis of the F11 gene in 14 Turkish patients with factor XI deficiency: identification of novel and recurrent mutations and their inheritance within families.
|
27723456 |
2018 |
|
Hereditary Factor XI Deficiency
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular investigation of 41 patients affected by coagulation factor XI deficiency.
|
29178608 |
2018 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Factor XI deficiency (FXID) is a rare bleeding disorder caused by mutations in the F11 gene.
|
29713955 |
2018 |
|
Hereditary Factor XI Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
|
27067486 |
2016 |
|
Hereditary Factor XI Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
In vitro comparison of the effect of two factor XI (FXI) concentrates on thrombin generation in major FXI deficiency.
|
26558335 |
2016 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China.
|
27067486 |
2016 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Clinical and molecular epidemiology of factor XI deficiency in India.
|
27710856 |
2016 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.
|
25681615 |
2015 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families.
|
25158988 |
2015 |
|
Hereditary Factor XI Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation.
|
25074526 |
2014 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
The spectrum of factor XI deficiency in Italy.
|
24112640 |
2014 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Spontaneous thrombosis in a patient with factor XI deficiency homozygous for the p.Cys398Tyr mutation.
|
25074526 |
2014 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.
|
24982842 |
2014 |
|
Hereditary Factor XI Deficiency
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.
|
23332144 |
2013 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Genetic analysis in FXI deficient patients from northwestern Italy: three novel and one recurrent mutation.
|
23305485 |
2013 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Type I mutation in the F11 gene is a third ancestral mutation which causes factor XI deficiency in Ashkenazi Jews.
|
23332144 |
2013 |
|
Hereditary Factor XI Deficiency
|
1.000 |
Biomarker
|
disease |
BEFREE |
Congenital FXI deficiency (hemophilia C) is a rare bleeding disorder that has been documented mostly in Ashkenazi Jews.
|
23187786 |
2013 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
|
22159456 |
2012 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A cluster of factor XI-deficient patients due to a new mutation (Ile 436 Lys) in northeastern Italy.
|
21999818 |
2012 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
|
22159456 |
2012 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Revisiting the molecular epidemiology of factor XI deficiency: nine new mutations and an original large 4qTer deletion in western Brittany (France).
|
22159456 |
2012 |
|
Hereditary Factor XI Deficiency
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of a novel F11 missense mutation (Ile463Ser) in a family with congenital factor XI deficiency.
|
22322133 |
2012 |