Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
[Advances in the genetics of venous thromboembolic disease].
Xia YQ et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2024
Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.
Maehana T et al.
The Journal of Obstetrics and Gynaecology Research, 2024
The clinical and genetic landscape of early-onset thrombophilia in Japan.
Egami N et al.
Pediatric Blood & Cancer, 2024
The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140 214 UK Biobank participants.
Stefanucci L et al.
Blood, 2023
Evaluation of prothrombotic risk of two PROC hotspot mutations (Arg189Trp and Lys193del) in Chinese population: a retrospective study.
Li L et al.
Thrombosis Journal, 2023
Surgical treatment of traction retinal detachment associated with compound heterozygous congenital protein C deficiency.
Kurihara T et al.
American Journal of Ophthalmology Case Reports, 2023
Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review.
Zhang Z et al.
Medicine, 2022
[Clinical phenotype and gene mutation analysis of 12 patients with hereditary protein C deficiency in different families].
Xu QY et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
Liver transplantation for congenital protein C deficiency with initial poor graft function: a case report with literature review.
Sakamoto A et al.
International Journal of Hematology, 2021
Pathogenic variants of PROC gene caused type II activity deficiency in a Chinese family: A case report.
Zhu H et al.
Medicine, 2021
Genotype-Phenotype Relationships in a Large French Cohort of Subjects with Inherited Protein C Deficiency.
Alhenc-Gelas M et al.
Thrombosis and Haemostasis, 2020
Identification of 58 Mutations (26 Novel) in 94 of 109 Symptomatic Spanish Probands with Protein C Deficiency.
Martos L et al.
Thrombosis and Haemostasis, 2019
Next-generation DNA sequencing to identify novel genetic risk factors for cerebral vein thrombosis.
Gorski MM et al.
Thrombosis Research, 2018
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients.
Wypasek E et al.
Polish Archives of Internal Medicine, 2017
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene.
Inoue H et al.
Pediatric Blood & Cancer, 2017
Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.
Fidalgo T et al.
European Journal of Haematology, 2015
Prenatal genetic testing for familial severe congenital protein C deficiency.
Tairaku S et al.
Human Genome Variation, 2015
Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients.
Gu Y et al.
International Journal of Laboratory Hematology, 2014
Paediatric presentation and outcome of congenital protein C deficiency in Japan.
Ohga S et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2013
Genetic defects in Portuguese families with inherited protein C deficiency.
David D et al.
Thrombosis Research, 2011
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis.
Miyata T et al.
Thrombosis Research, 2009
Definite diagnosis in Japanese patients with protein C deficiency by identification of causative PROC mutations.
Takagi A et al.
International Journal of Hematology, 2009
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C.
Rovida E et al.
Human Mutation, 2007