Associated Papers
Genetics of Thrombotic Thrombocytopenic Purpura (TTP): Systematic Review in Immune and Congenital TTP.
Carter MA et al.
Journal of Thrombosis and Haemostasis : Jth, 2026
Genetic association of preeclampsia to von Willebrand factor and its size-regulator ADAMTS13.
Lokki AI et al.
Research Square, 2025
Genetic variants contribute to modulation of renal function in patients with immune thrombotic thrombocytopenic purpura.
Cao W et al.
Blood Vessels, Thrombosis & Hemostasis, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.
Béranger N et al.
Blood Advances, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.
Pagliari MT et al.
Plos One, 2021
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome.
Joly BS et al.
Thrombosis and Haemostasis, 2018
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA et al.
Journal of Thrombosis and Haemostasis : Jth, 2018
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany.
Hassenpflug WA et al.
Thrombosis and Haemostasis, 2018
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo T et al.
Research and Practice in Thrombosis and Haemostasis, 2017
Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels.
Ma Q et al.
Blood Advances, 2017
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge.
Enjeti AK et al.
Pathology, 2015
ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study.
von Krogh AS et al.
Thrombosis Research, 2015
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity.
de Vries PS et al.
Blood, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
Proteolytic processing of von Willebrand factor by adamts13 and leukocyte proteases.
Lancellotti S et al.
Mediterranean Journal of Hematology and Infectious Diseases, 2013
Partial ADAMTS13 deficiency in atypical hemolytic uremic syndrome.
Feng S et al.
Blood, 2013
Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome.
Deal T et al.
Journal of Clinical Apheresis, 2013
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis.
Lotta LA et al.
Journal of Thrombosis and Haemostasis : Jth, 2013
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom.
Camilleri RS et al.
Journal of Thrombosis and Haemostasis : Jth, 2012
[ADAMTS13, von Willebrand factor specific cleaving protease].
Veyradier A et al.
Medecine Sciences : M/s, 2011
ADAMTS13 gene mutations in children with hemolytic uremic syndrome.
Choi HS et al.
Yonsei Medical Journal, 2011
Association between ADAMTS13 polymorphisms and risk of cardiovascular events in chronic coronary disease.
Schettert IT et al.
Thrombosis Research, 2010
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
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.
Plaimauer B et al.
Blood, 2006
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
Antoine G et al.
British Journal of Haematology, 2003