Associated Papers
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational 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
Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura.
Wang X et al.
Current Medical Science, 2023
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.
Chen F et al.
Thrombosis Research, 2023
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China.
Zhang L et al.
Journal of Clinical Laboratory Analysis, 2021
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Identification of TNFSF13, SPATC1L, SLC22A25 and SALL4 as novel susceptibility loci for atrial fibrillation by an exome‑wide association study.
Yamada Y et al.
Molecular Medicine Reports, 2017
Protective effect of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 haplotype on coronary artery disease.
Lasom S et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2017
[ADAMTS13, von Willebrand factor specific cleaving protease].
Veyradier A et al.
Medecine Sciences : M/s, 2011
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome.
Kokame K et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan.
Fujimura Y et al.
Journal of Thrombosis and Haemostasis : Jth, 2011
ADAMTS13 gene mutations in children with hemolytic uremic syndrome.
Choi HS et al.
Yonsei Medical Journal, 2011
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children.
Loirat C et al.
Pediatric Nephrology (berlin, Germany), 2009
Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome.
Kokame K et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
Shibagaki Y et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
[Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura].
Liu F et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2005
[Development and application of a new ADAMTS13 assay for TTP diagnosis].
Kokame K et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 2005