Associated Papers
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report.
Poznyakova J et al.
Clinical and Experimental Pharmacology & Physiology, 2022
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura.
Borogovac A et al.
Blood Advances, 2022
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
[Diagnosis of thrombotic thrombocytopenic purpura].
Galstyan GM et al.
Terapevticheskii Arkhiv, 2020
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
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
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
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
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
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 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura.
Lotta LA et al.
Human Mutation, 2010
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura.
Camilleri RS et al.
Journal of Thrombosis and Haemostasis : Jth, 2008
Pathogenesis of thrombotic microangiopathies.
Zheng XL et al.
Annual Review of Pathology, 2008
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
Tao Z et al.
Journal of Thrombosis and Haemostasis : Jth, 2006
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Veyradier A et al.
Journal of Thrombosis and Haemostasis : Jth, 2004