Associated Papers
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Complete F9 Gene Deletion, Duplication, and Triplication Rearrangements: Implications for Factor IX Expression and Clinical Phenotypes.
Ma Y et al.
Thrombosis and Haemostasis, 2024
Analysis of PROS1 mutations and clinical characteristics in three Chinese families with hereditary protein S deficiency.
Xu F et al.
Annals of Hematology, 2024
Case Report: PROS1 (c.76+2_76+3del) pathogenic mutation causes pulmonary embolism.
Ding P et al.
Frontiers in Cardiovascular Medicine, 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
A Rare Case with Pulmonary Embolism and Literature Review.
Liao J et al.
Clinical Laboratory, 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
[A family of hereditary protein S deficiency with the onset of pulmonary embolism and literature review].
Wei CJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis.
Megy K et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Genetic Variants in the Protein S ( PROS1 ) Gene and Protein S Deficiency in a Danish Population.
Larsen OH et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2021
The genetics of venous thromboembolism: a systematic review of thrombophilia families.
Zhang Y et al.
Journal of Thrombosis and Thrombolysis, 2021
[Hereditary protein S deficiency: survey results from a Chinese pedigree].
Li ZY et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2020
Clinical Manifestation and Mutation Spectrum of 53 Unrelated Pedigrees with Protein S Deficiency in China.
Li L et al.
Thrombosis and Haemostasis, 2019
Distinctive regional-specific PROS1 mutation spectrum in Southern China.
Chan NCN et al.
Journal of Thrombosis and Thrombolysis, 2018
Genotypes and phenotypes of protein S deficiency in Thai children with thromboembolism.
Komwilaisak P et al.
Pediatric Blood & Cancer, 2017
Thrombin generation and other coagulation parameters in a patient with homozygous congenital protein S deficiency on treatment with rivaroxaban.
Tripodi A et al.
International Journal of Hematology, 2016
The C-glycosyltransferase IroB from pathogenic Escherichia coli: identification of residues required for efficient catalysis.
Foshag D et al.
Biochimica Et Biophysica Acta, 2014
Genotype and laboratory and clinical phenotypes of protein s deficiency.
Duebgen S et al.
American Journal of Clinical Pathology, 2012
A suite of Switch I and Switch II mutant structures from the G-protein domain of FeoB.
Ash MR et al.
Acta Crystallographica. Section D, Biological Crystallography, 2011
Protein S inherited qualitative deficiency: novel mutations and phenotypic influence.
Alhenc-Gelas M et al.
Journal of Thrombosis and Haemostasis : Jth, 2010
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations.
Ten Kate MK et al.
Human Mutation, 2008
Association of protein S p.Pro667Pro dimorphism with plasma protein S levels in normal individuals and patients with inherited protein S deficiency.
Castaman G et al.
Thrombosis Research, 2007
Protein S binding to phospholipids: evaluation of eight variants of recombinant human protein S from the PROSIT study.
Razzari C et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Molecular diversity and thrombotic risk in protein S deficiency: the PROSIT study.
Biguzzi E et al.
Human Mutation, 2005