Associated Papers
Clinical characteristics and genetic variant spectrum of 27 patients with coagulation factor XI deficiency.
Ren J et al.
Human Genetics, 2026
Understanding Congenital FXI Deficiency: Genetic Diagnosis and Correlation of Variant Detection Rate to Factor XI Activity.
Pezeshkpoor B et al.
Hamostaseologie, 2025
Clinical and Genetic Heterogeneity of Factor XI Deficiency: Insights from a Southern Italian Cohort.
Santacroce R et al.
International Journal of Molecular Sciences, 2025
Unusual Comorbid Condition in a Child with Severe Factor XI Deficiency: Spina Bifida
Kahraman A et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2025
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
The spectrum of factor XI deficiency in Southeast China: four recurrent variants can explain most of the deficiencies.
Zhang K et al.
Orphanet Journal of Rare Diseases, 2024
[Analysis of a Chinese pedigree affected with Hereditary coagulation factor Ⅺ deficiency due to variant of F11 gene].
Wang H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Reinvestigation of unidentified causative variants in FXI-deficient patients: Focus on gene segment deletions.
De Mazancourt P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations.
Jiang S et al.
Acta Haematologica, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency.
Wang H et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2022
Detection and Gene Mutation Analysis of Three Variations in Two Unrelated Chinese Hereditary Coagulation Factor XI Deficiency Families.
Yang T et al.
Acta Haematologica, 2022
[Analysis of a pedigree affected with hereditary coagulation factor XI deficiency due to compound heterozygous variants of F11 gene].
Yang T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
[Analysis of the molecular pathogenesis and clinical phenotypes of 10 patients with inherited coagulation factor Ⅺ deficiency].
Li SX et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2020
Molecular investigation of 41 patients affected by coagulation factor XI deficiency.
Rimoldi V et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2018
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.
Colakoglu S et al.
Blood Transfusion = Trasfusione Del Sangue, 2018
Factor XI gene variants in factor XI-deficient patients of Southern Italy: identification of a novel mutation and genotype-phenotype relationship.
Tiscia GL et al.
Human Genome Variation, 2017
Genetic analysis in Factor XI deficient patients from central China: identification of one novel and seven recurrent mutations.
Liu H et al.
Gene, 2015
Cys482Trp missense mutation in the coagulation factor XI gene (F11) in a Korean patient with factor XI deficiency.
Choi SJ et al.
Annals of Laboratory Medicine, 2014
Population-specific spectrum of the F11 mutations in Koreans: evidence for a founder effect.
Kim J et al.
Clinical Genetics, 2012
Characterization of the genetic basis of FXI deficiency in two Turkish patients.
Berber E et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2010