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
Genotype-Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants.
Radhakrishnan N et al.
Cureus, 2025
Clinical Utility of a Targeted Next-Generation Sequencing Panel for Inherited Platelet Disorders in Children.
Kaçar D et al.
Diagnostics (basel, Switzerland), 2025
[Management of congenital thrombotic thrombocytopenic purpura in the era of recombinant ADAMTS13 protein: Recommendations from the Reference Center for Thrombotic Microangiopathies (CNR-MAT)].
Joly BS et al.
La Revue De Medecine Interne, 2025
Thrombotic Thrombocytopenic Purpura in Pediatric Patients.
Shrestha N et al.
Biomedicines, 2025
Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.
Schott C et al.
Genes, 2025
Plasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure.
Coşkun Ç et al.
Journal of Pediatric Hematology/oncology, 2025
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD et al.
Genetics in Medicine Open, 2025
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis.
Seidizadeh O et al.
Blood Advances, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience.
Béranger N et al.
Blood Advances, 2024
Germline genetic variants in a case of familial cancer: RAD51D and four other co-segregated variants.
Biswas S et al.
Journal of Genetics, 2024
Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update.
Markham-Lee Z et al.
Platelets, 2023
Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura.
Wang Z et al.
Hematology (amsterdam, Netherlands), 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
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura.
Sakai K et al.
Journal of Clinical Medicine, 2023
Immune and Hereditary Thrombotic Thrombocytopenic Purpura: Can ADAMTS13 Deficiency Alone Explain the Different Clinical Phenotypes?
Lancellotti S et al.
Journal of Clinical Medicine, 2023
Frontiers in pathophysiology and management of thrombotic thrombocytopenic purpura.
Kubo M et al.
International Journal of Hematology, 2023
An update on the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura.
Gómez-Seguí I et al.
Expert Review of Hematology, 2023
Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura.
Asmis LM et al.
The New England Journal of Medicine, 2022
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
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
Molecular Diagnosis Is Vital to the Accurate Classification and Management of Thrombotic Thrombocytopenic Purpura in Children.
Karsenty CL et al.
Frontiers in Immunology, 2022
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome.
Zhao T et al.
Bmc Genomic Data, 2021
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
Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient.
Lozano Jaramillo DA et al.
Journal of Medical Cases, 2021
First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene.
Chou SC et al.
International Journal of Hematology, 2021
Recognizing and managing hereditary and acquired thrombotic thrombocytopenic purpura in infants and children.
Siddiqui A et al.
Pediatric Blood & Cancer, 2021
Thrombotic Thrombocytopenic Purpura: Pathophysiology, Diagnosis, and Management.
Sukumar S et al.
Journal of Clinical Medicine, 2021
[Diagnosis of thrombotic thrombocytopenic purpura].
Galstyan GM et al.
Terapevticheskii Arkhiv, 2020
Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland.
Kremer Hovinga JA et al.
Hamostaseologie, 2020
Current and Future Perspectives on ADAMTS13 and Thrombotic Thrombocytopenic Purpura.
Roose E et al.
Hamostaseologie, 2020
Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events.
Tenison E et al.
Bmj Case Reports, 2019
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017.
van Dorland HA et al.
Haematologica, 2019
Characterization and treatment of congenital thrombotic thrombocytopenic purpura.
Alwan F et al.
Blood, 2019
[A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood].
Gustafsson H et al.
Lakartidningen, 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
Pediatric thrombotic thrombocytopenic purpura.
Joly BS et al.
European Journal of Haematology, 2018