References
Search and browse the curated reference list supporting the ADAMTS13 variant database. Filter by author, year, journal or PMID, or search across titles, citations and notes.
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319
Total references
319
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319 matching references found.
| ref_id | Year | First author | Reference details | Linked variants | Links |
|---|---|---|---|---|---|
| 287 | 2025 | Huang Y |
A compound heterozygous ADAMTS13 mutation causes congenital thrombotic thrombocytopenic purpura: a case report
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| 314 | 2025 | Mawalla WF |
Novel ADAMTS13 Mutation in a Patient With Congenital TTP Diagnosed in Pregnancy
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| 315 | 2025 | Al Mandhari H |
Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report
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| 317 | 2025 | Maragliano R |
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
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| 318 | 2025 |
Caplacizumab in a Case of Very Late Diagnosis of Congenital Thrombotic Thrombocytopenic Purpura, 05 October 2025, PREPRINT (Version 1) available at Research Square
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| 319 | 2025 | Radhakrishnan N |
Genotype–Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants
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| 320 | 2025 | Xing X |
Pregnancy-Triggered Hereditary Thrombotic Thrombocytopenic Purpura: A Case Report
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| 2 | 2024 | Seidizadeh O |
Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis
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| 3 | 2024 | Helber HL |
Detection of novel duplication variant in ADAMTS13 gene using chromosomal microarray analysis
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| 4 | 2024 | Jia Y |
A Case of Pregnancy-Induced Hereditary Thrombotic Thrombocytopenic Purpura Complicated by Cerebral Vasospasm
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| 5 | 2024 | Yoshino T |
[Congenital thrombotic thrombocytopenic purpura diagnosed in adulthood after repeated thrombocytopenia since neonatal period]
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| 6 | 2024 | Fujimura Y |
Hereditary TTP/Upshaw-Schulman syndrome: the ductus arteriosus controls newborn survival
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| 7 | 2024 | Sethi SK |
NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
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| 8 | 2024 | Béranger N |
Management and follow-up of pregnancy-onset thrombotic thrombocytopenic purpura: the French experience
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| 14 | 2024 | Chen J |
A Novel Variant on the Thrombospondin Type-1 Repeat 2 Domain of ADAMTS13 in a Parturient with Suspected Hereditary Thrombotic Thrombocytopenic Purpura and Unusually High ADAMTS13 Activity
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| 32 | 2024 | Masnic F |
A rare pathogenic MCP mutation in patient with congenital TTP
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| 282 | 2024 | Zhou, R |
Hereditary thrombotic thrombocytopenic purpura mimicking immune thrombocytopenia was revealed by miscarriage—novel compound heterozygous mutations in hTTP
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| 284 | 2024 | Diogo, D |
4002 Mutation Analysis of the ADAMTS13 Gene in Patients with Congenital Thrombotic Thrombocytopenic Purpura from the rADAMTS13 Phase 3 Study
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| 285 | 2024 | Coşkun Ç |
Plasma Exchange and N-Acetylcysteine Therapy in a Case of Congenital Thrombotic Thrombocytopenic Purpura Presenting With Acute Renal Failure
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| 289 | 2024 | Konopnicki A |
Single-Nucleotide Polymorphisms in Thrombotic Thrombocytopenic Purpura: A Genetic Predisposition to Immune Thrombotic Thrombocytopenic Purpura
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| 301 | 2024 | Kaur S |
Importance of Prenatal Genetic Counselling: An Experience with Hereditary Thrombotic Thrombocytopenic Purpura.
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| 306 | 2024 | Seneviratna LS |
PB0312 - A novel ADAMTS13 variant found in a patient with Congenital Thrombotic Thrombocytopenic Purpura
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| 307 | 2024 | Komvilaisak P |
PB0637 - A first care report of congenital thrombotic thrombocytopenic purpura (cTTP) in ADAMTS13 gene in Thailand
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| 9 | 2023 | Nusrat S |
Hereditary Thrombotic Thrombocytopenic Purpura
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| 10 | 2023 | Chrisentery-Singleton T |
Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13
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| 11 | 2023 | Wang Z |
Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura
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| 12 | 2023 | Assiri M |
Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia
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| 13 | 2023 | Hamroun A |
The challenging follow-up of pregnancy in women with known thrombotic thrombocytopenic purpura: a single-center experience of a preemptive management protocol
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| 15 | 2023 | Nanjiani D |
Congenital thrombotic thrombocytopenic purpura masquerading as vitamin B12 deficiency
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| 16 | 2023 | Basrawala H |
First description of atrial fibrillation and congenital thrombotic thrombocytopenic purpura treated by left atrial appendage occlusion
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| 17 | 2023 | Subspecialty Group of Hematology, the Society of Pediatrics, Chinese Medical Association |
[Expert consensus on diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura in children]
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| 18 | 2023 | Lyu XP |
[Clinical diagnosis and treatment of hereditary thrombocytopenia and purpura: a report of five cases and literature review]
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| 19 | 2023 | Davidesko S |
von Willebrand factor antigen: a biomarker for severe pregnancy complications in women with hereditary thrombotic thrombocytopenic purpura?
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| 20 | 2023 | De Waele L |
In vitro characterization of a novel Arg102 mutation in the ADAMTS13 metalloprotease domain
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| 21 | 2023 | Martin KA |
Hereditary thrombotic thrombocytopenic purpura acquired through liver transplantation: A case report
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| 24 | 2023 | Subhan MO |
Unusually high ADAMTS13 activity in a patient with congenital thrombotic thrombocytopenic purpura
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| 27 | 2023 | Markham-Lee Z |
Inherited ADAMTS13 mutations associated with Thrombotic Thrombocytopenic Purpura: a short review and update
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| 190 | 2023 | Wang X |
Identification of 8 Rare Deleterious Variants in ADAMTS13 by Next-generation Sequencing in a Chinese Population with Thrombotic Thrombocytopenic Purpura
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| 191 | 2023 | Sakai K |
Clinical Manifestations, Current and Future Therapy, and Long-Term Outcomes in Congenital Thrombotic Thrombocytopenic Purpura
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| 192 | 2023 | Lancellotti S |
Immune and Hereditary Thrombotic Thrombocytopenic Purpura: Can ADAMTS13 Deficiency Alone Explain the Different Clinical Phenotypes?
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| 193 | 2023 | Kramer RA |
An Exploratory Study Using Next-Generation Sequencing to Identify Prothrombotic Variants in Patients with Cerebral Vein Thrombosis
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| 194 | 2023 | Zhang Z |
Pathway-driven rare germline variants associated with transplant-associated thrombotic microangiopathy (TA-TMA)
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| 195 | 2023 | Gómez-Seguí I |
An update on the pathogenesis and diagnosis of thrombotic thrombocytopenic purpura
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| 22 | 2022 | Asmis LM |
Recombinant ADAMTS13 for Hereditary Thrombotic Thrombocytopenic Purpura
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| 23 | 2022 | Skeith L |
Hypercoagulability and Inflammatory Markers in a Case of Congenital Thrombotic Thrombocytopenic Purpura Complicated by Fetal Demise
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| 25 | 2022 | Dahlan R |
Hereditary thrombotic thrombocytopenic purpura (TTP) with co-occurring autosomal dominant polycystic kidney disease (ADPKD)
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| 26 | 2022 | George JN |
Hereditary thrombotic thrombocytopenic purpura: The risk for death at birth
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| 28 | 2022 | Zguro K |
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19
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| 29 | 2022 | Yang L |
Novel ADAMTS13 mutation in a family with three recurrent neonatal deaths: a case report and literature review
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| 30 | 2022 | Karsenty CL |
Molecular Diagnosis Is Vital to the Accurate Classification and Management of Thrombotic Thrombocytopenic Purpura in Children
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| 31 | 2022 | Liu W |
[Advance in the diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura]
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| 33 | 2022 | John BM |
Upshaw-Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene
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| 34 | 2022 | Beltrami-Moreira M |
Delayed diagnosis of congenital thrombotic thrombocytopenic purpura in a patient with recurrent strokes
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| 37 | 2022 | Borogovac A |
Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura
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| 39 | 2022 | Chen JK |
A Case of Parturient with Hereditary Thrombotic Thrombocytopenic Purpura: Case Report of a Novel Variant
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| 48 | 2022 | Toret E |
A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
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| 51 | 2022 | Borborema TS |
Hereditary thrombotic thrombocytopenic purpura: a case report
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| 196 | 2022 | Warlo EMK |
Genetic Variation in ADAMTS13 is Related to VWF Levels, Atrial Fibrillation and Cerebral Ischemic Events
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| 198 | 2022 | Poznyakova J |
New missense mutation p.Trp387Ser affecting the functionally important TrpXXTrp motif in the TSR1 repeat of ADAMTS13 metalloproteinase: Case report
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| 199 | 2022 | Jankowska KI |
Synonymous ADAMTS13 variants impact molecular characteristics and contribute to variability in active protein abundance
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| 202 | 2022 | South K |
Robust thrombolytic and anti-inflammatory action of a constitutively active ADAMTS13 variant in murine stroke models
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| 286 | 2022 | ALMADANI, Housam Yousef |
Congenital thrombotic thrombocytopenic purpura due to a novel homozygous mutation in the ADAMTS13 gene: a case report
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| 290 | 2022 | Al-Antary ET |
Unusual Presentation of Thrombotic Thrombocytopenic Purpura in a Newly Diagnosed Pediatric Patient With Systemic Lupus Erythematosus in the Setting of MIS-C
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| 296 | 2022 | Liu J |
Early indicators of neonatal-onset hereditary thrombotic thrombocytopenia purpura
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| 35 | 2021 | Li P |
An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review
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| 36 | 2021 | Cernichiaro-Espinosa M |
Bilateral Ischemic Retinopathy Associated With Upshaw-Schulman Syndrome: A Case Report
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| 38 | 2021 | Lozano Jaramillo DA |
Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient
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| 40 | 2021 | Hasan F |
Congenital ADAMTS-13 deficiency presenting as life-threatening thrombosis during pregnancy
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| 41 | 2021 | Alharbi I |
De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura
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| 42 | 2021 | Zeng MH |
[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years]
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| 43 | 2021 | Nonaka T |
A successfully treated case of an acute presentation of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) with decreased ADAMTS13 during late stage of pregnancy
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| 44 | 2021 | Wendt R |
Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker
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| 45 | 2021 | Miodownik S |
Unfolding the pathophysiology of congenital thrombotic thrombocytopenic purpura in pregnancy: lessons from a cluster of familial cases
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| 47 | 2021 | Chou SC |
First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene
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| 53 | 2021 | Xu J |
Frequent recurrence of pregnancy-triggered congenital thrombotic thrombocytopenic purpura: A rare case report
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| 56 | 2021 | Wyatt KD |
Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder
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| 197 | 2021 | Zahrani RAA |
Recurrent C3 Glomerulonephritis with an ADAMTS 13 Gene Variant: A Case Report and Literature Review
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| 200 | 2021 | Wu Z |
Residues R1075, D1090, R1095, and C1130 Are Critical in ADAMTS13 TSP8-Spacer Interaction Predicted by Molecular Dynamics Simulation
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| 201 | 2021 | Zhao T |
The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome
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| 203 | 2021 | Pagliari MT |
Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis
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| 204 | 2021 | Matsumoto M |
[Pathogenesis and novel treatment of thrombotic thrombocytopenic purpura]
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| 205 | 2021 | Zhang L |
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
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| 206 | 2021 | Sakai K |
Current prophylactic plasma infusion protocols do not adequately prevent long-term cumulative organ damage in the Japanese congenital thrombotic thrombocytopenic purpura cohort
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| 207 | 2021 | Miyata T |
Autoantibody-resistant ADAMTS13 variant
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| 308 | 2021 | Demeester S |
PB0849 | TTP during Pregnancy: Acquired or Late- Onset Congenital? A Diagnostic Challenge
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| 46 | 2020 | Rashid A |
Congenital Thrombotic Thrombocytopenic Purpura With a Novel ADAMTS13 Gene Mutation
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| 49 | 2020 | Kremer Hovinga JA |
Insights from the Hereditary Thrombotic Thrombocytopenic Purpura Registry: Discussion of Key Findings Based on Individual Cases from Switzerland
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| 50 | 2020 | Wang J |
Clinical Features and Gene Mutation Analysis of Congenital Thrombotic Thrombocytopenic Purpura in Neonates
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| 52 | 2020 | Dai YL |
Hereditary Thrombotic Thrombocytopenic Purpura in a Chinese Boy With a Novel Compound Heterozygous Mutation of the ADAMTS13 Gene
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| 54 | 2020 | Kasht R |
Frequency and severity of pregnancy complications in women with hereditary thrombotic thrombocytopenic purpura
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| 55 | 2020 | Soffer MD |
Congenital thrombotic thrombocytopenic purpura (TTP) with placental abruption despite maternal improvement: a case report
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| 57 | 2020 | Zharnest D |
Atypical presentation of congenital thrombotic thrombocytopenic purpura with large and small vessel disease: A case report
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| 58 | 2020 | Letzer A |
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
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| 59 | 2020 | Lv H |
Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature
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| 60 | 2020 | Hou L |
Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report
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| 61 | 2020 | Elbaz C |
New mutation found to cause hereditary thrombotic thrombocytopenic purpura in a patient presenting with seizures in adulthood
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| 62 | 2020 | Jiang Y |
Novel mutations in ADAMTS13 CUB domains cause abnormal pre-mRNA splicing and defective secretion of ADAMTS13
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| 65 | 2020 | Pikovsky O |
Congenital thrombotic thrombocytopenic purpura in a large cohort of patients carrying a novel mutation in ADAMTS13 gene
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| 208 | 2020 | Tanabe S |
Stealth thrombosis of brain and kidney in a girl with Upshaw-Schulman syndrome not receiving prophylactic plasma infusions
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| 209 | 2020 | Witten A |
ADAMTS12, a new candidate gene for pediatric stroke
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| 210 | 2020 | Liu R |
Susceptible gene polymorphism in patients with three-vessel coronary artery disease
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| 211 | 2020 | Wang XY |
[Clinical characteristics of 83 patients with thrombotic thrombocytopenic purpura]
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| 212 | 2020 | Gavriilaki E |
Pretransplant Genetic Susceptibility: Clinical Relevance in Transplant-Associated Thrombotic Microangiopathy
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| 213 | 2020 | Chen S |
Intracranial aneurysm's association with genetic variants, transcription abnormality, and methylation changes in ADAMTS genes
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| 300 | 2020 | Avery EJ |
Thrombotic thrombocytopenic purpura masquerading as preclampsia with severe features at 13 weeks' gestation
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| 304 | 2020 | Letzer A |
Upshaw-Schulman syndrome-associated ADAMTS13 variants possess proteolytic activity at the surface of endothelial cells and in simulated circulation
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| 309 | 2020 | Paiva J |
PB1884 | Correlation between Phenotype-genotype versus in-silico Prediction of Novel and Known Disease-causing Variants in UpshawSchulman Syndrome Patients in a Single Institution of Argentina
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| 316 | 2020 | Mansour-Hendili L |
Exome sequencing for diagnosis of congenital hemolytic anemia
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| 63 | 2019 | Köker O |
Thrombotic thrombocytopenic purpura as a rare cause of anemia with thrombocytopenia in childhood: report of 2 cases
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| 64 | 2019 | Li C |
[A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia]
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| 66 | 2019 | Kremer Hovinga JA |
Hereditary Thrombotic Thrombocytopenic Purpura
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| 67 | 2019 | Tenison E |
Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events
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| 68 | 2019 | Yadav RK |
Novel Heterozygous Mutations of Congenital Thrombotic Thrombocytopenic Purpura: A Rare Case Report
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| 69 | 2019 | Majeed Memon A |
Blood film says it all! Rare case of congenital TTP misdiagnosed as ITP
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| 70 | 2019 | Gustafsson H |
[A case of quetiapine-induced congenital thrombotic thrombocytopenic purpura, atypical phenotype diagnosed in adulthood]
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| 71 | 2019 | Beauvais D |
Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
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| 72 | 2019 | van Dorland HA |
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
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| 73 | 2019 | Alwan F |
Characterization and treatment of congenital thrombotic thrombocytopenic purpura
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| 74 | 2019 | Fu LL |
[Analysis of 5 children with congenital thrombotic thrombocytopenic purpura]
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| 75 | 2019 | Katneni UK |
von Willebrand factor/ADAMTS-13 interactions at birth: implications for thrombosis in the neonatal period
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| 81 | 2019 | Resham S |
Upshaw-Schulman Syndrome With c.2728C>T Mutation in ADAMTS13 Gene
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| 214 | 2019 | Hunt R |
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
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| 215 | 2019 | Fujimura Y |
Patent ductus arteriosus generates neonatal hemolytic jaundice with thrombocytopenia in Upshaw-Schulman syndrome
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| 216 | 2019 | Ferrari B |
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura
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| 303 | 2019 | Taylor A |
Pharmacokinetics of plasma infusion in congenital thrombotic thrombocytopenic purpura
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| 305 | 2019 | Das D |
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
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| 310 | 2019 | Freue JM |
PB1581 | Adult Onset Hereditary Thrombotic Thrombocytopenic Purpura (TTP) with a Novel ADAMTS13 Mutation
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| 76 | 2018 | Rawala MS |
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
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| 77 | 2018 | Joly BS |
ADAMTS13 Gene Mutations Influence ADAMTS13 Conformation and Disease Age-Onset in the French Cohort of Upshaw-Schulman Syndrome
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| 78 | 2018 | Itami H |
Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome
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| 80 | 2018 | Yap YY |
Clinical characteristics and outcomes of thrombotic microangiopathy in Malaysia
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| 82 | 2018 | Joly BS |
Pediatric thrombotic thrombocytopenic purpura
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| 83 | 2018 | Schelpe AS |
Child-onset thrombotic thrombocytopenic purpura caused by p.R498C and p.G259PfsX133 mutations in ADAMTS13
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| 84 | 2018 | Romão de Souza V Jr |
Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report
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| 88 | 2018 | Conboy E |
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant
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| 217 | 2018 | Tsuda M |
Upshaw-Schulman syndrome diagnosed during pregnancy complicated by reversible cerebral vasoconstriction syndrome
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| 218 | 2018 | South K |
Enhanced activity of an ADAMTS-13 variant (R568K/F592Y/R660K/Y661F/Y665F) against platelet agglutination in vitro and in a murine model of acute ischemic stroke
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| 219 | 2018 | Schooling CM |
ADAMTS-13 activity and ischemic heart disease: a Mendelian randomization study
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| 220 | 2018 | Haybar H |
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
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| 221 | 2018 | Hassenpflug WA |
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw-Schulman Syndrome Investigated in Germany
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| 222 | 2018 | Roose E |
Anti-ADAMTS13 Antibodies and a Novel Heterozygous p.R1177Q Mutation in a Case of Pregnancy-Onset Immune-Mediated Thrombotic Thrombocytopenic Purpura
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| 224 | 2018 | Schierding W |
GWAS on prolonged gestation (post-term birth): analysis of successive Finnish birth cohorts
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| 299 | 2018 | Reti M |
Description of the First Cases with ADAMTS13 Mutations in Hungary.
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| 79 | 2017 | Fidalgo T |
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing
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| 85 | 2017 | Fattah H |
Successful kidney transplantation in a patient with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)
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| 86 | 2017 | Funakoshi Y |
[Siblings with congenital thrombotic thrombocytopenic purpura]
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| 87 | 2017 | Yadav S |
A novel homozygous frameshift mutation in Exon 7 of the ADAMTS13 gene in a patient with congenital thrombotic thrombocytopenic purpura from India: a case report
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| 89 | 2017 | Lúcio DS |
Relapse of congenital thrombotic thrombocytopenic purpura, after spontaneous remission, in a second-trimester primigravida: case report and review of the literature
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| 91 | 2017 | Lehmberg K |
Inherited Thrombotic Thrombocytopenic Purpura (Upshaw Schulman Syndrome) as Differential Diagnosis to Neonatal Septicaemia with Disseminated Intravascular Coagulation - a Case Series
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| 223 | 2017 | Ma Q |
Genetic variants in ADAMTS13 as well as smoking are major determinants of plasma ADAMTS13 levels
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| 225 | 2017 | Goel A |
ADAMTS13 missense variants associated with defective activity and secretion of ADAMTS13 in a patient with non-cirrhotic portal hypertension
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| 226 | 2017 | Katneni UK |
Compounding variants rescue the effect of a deleterious ADAMTS13 mutation in a child with severe congenital heart disease
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| 291 | 2017 | Kasdallah N |
Inherited ADMATS13 deficiency: When to evoke the in the newborn?
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None linked
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| 292 | 2017 | Sarmiento H |
Upshaw-Schulman Syndrome: Novel homozygous missense mutation
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None linked
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| 90 | 2016 | Underwood M |
Degradation of two novel congenital TTP ADAMTS13 mutants by the cell proteasome prevents ADAMTS13 secretion
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None linked
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| 92 | 2016 | Vieira-Martins P |
Defining the genetics of thrombotic microangiopathies
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None linked
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|
| 93 | 2016 | Wang CY |
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
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None linked
|
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| 94 | 2016 | Fan X |
Genetic variations in complement factors in patients with congenital thrombotic thrombocytopenic purpura with renal insufficiency
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None linked
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|
| 95 | 2016 | Epperla N |
Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy
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None linked
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| 96 | 2016 | von Krogh AS |
High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence
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None linked
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| 97 | 2016 | Ghariani I |
[Thrombotic thrombocytopenic purpura in a newborn]
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None linked
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| 100 | 2016 | Sharma D |
Congenital thrombotic thrombocytopenic purpura: Upshaw-Schulman syndrome: a cause of neonatal death and review of literature
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None linked
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|
| 101 | 2016 | Lancellotti S |
The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study
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None linked
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| 103 | 2016 | Kim HY |
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations
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None linked
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| 227 | 2016 | Tsujii N |
Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw-Schulman Syndrome
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None linked
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| 228 | 2016 | Pagliari MT |
Next-Generation Sequencing and In Vitro Expression Study of ADAMTS13 Single Nucleotide Variants in Deep Vein Thrombosis
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None linked
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|
| 229 | 2016 | Manresa Manresa P |
[Upshaw-Schulman syndrome. A case based on 3 genomic variants]
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None linked
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| 230 | 2016 | Nakagawa M |
Genotyping of the c.1423C>T (p.P475S) polymorphism in the ADAMTS13 gene by APLP and HRM assays: Northeastern Asian origin of the mutant
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None linked
|
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| 231 | 2016 | Stoll M |
Rare Variants in the ADAMTS13 Von Willebrand Factor-Binding Domain Contribute to Pediatric Stroke
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None linked
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| 232 | 2016 | Arning A |
ADAMTS genes and the risk of cerebral aneurysm
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None linked
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| 98 | 2015 | Ahmad R |
Upshaw-Schulman Syndrome
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None linked
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| 99 | 2015 | Pecoraro C |
Treatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab
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None linked
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| 102 | 2015 | Krabbe JG |
Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene
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None linked
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| 104 | 2015 | Delmas Y |
Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease
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None linked
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| 105 | 2015 | De Cock E |
The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice
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None linked
|
|
| 106 | 2015 | Ferrari B |
Congenital and acquired ADAMTS13 deficiency: Two mechanisms, one patient
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None linked
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| 110 | 2015 | Raval JS |
Development of a clinically significant ADAMTS13 inhibitor in a patient with hereditary thrombotic thrombocytopenic purpura
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None linked
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| 233 | 2015 | Enjeti AK |
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
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None linked
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| 234 | 2015 | Rurali E |
ADAMTS13 Secretion and Residual Activity among Patients with Congenital Thrombotic Thrombocytopenic Purpura with and without Renal Impairment
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None linked
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|
| 235 | 2015 | von Krogh AS |
ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study
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None linked
|
|
| 236 | 2015 | Ogawa Y |
A Unique Case Involving a Female Patient with Upshaw-Schulman Syndrome: Low Titers of Antibodies against ADAMTS13 prior to Pregnancy Disappeared after Successful Delivery
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None linked
|
|
| 237 | 2015 | de Vries PS |
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity
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None linked
|
|
| 239 | 2015 | Lee M |
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
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None linked
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| 107 | 2014 | Hanby HA |
Current status in diagnosis and treatment of hereditary thrombotic thrombocytopenic purpura
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None linked
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| 108 | 2014 | Gallivan CD |
A case of congenital TTP presenting with microganiopathy in adulthood
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None linked
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| 109 | 2014 | Pérez-Rodríguez A |
Inherited ADAMTS13 deficiency (Upshaw-Schulman syndrome): a short review
|
None linked
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|
| 111 | 2014 | Falter T |
Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura
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None linked
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| 112 | 2014 | Eura Y |
Candidate gene analysis using genomic quantitative PCR: identification of ADAMTS13 large deletions in two patients with Upshaw-Schulman syndrome
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None linked
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| 113 | 2014 | Hassenpflug WA |
Inherited thrombotic thrombocytopenic purpura in children
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None linked
|
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| 114 | 2014 | Khan MR |
Hereditary thrombotic purpura
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None linked
|
|
| 115 | 2014 | Kim B |
Single-nucleotide variations defining previously unreported ADAMTS13 haplotypes are associated with differential expression and activity of the VWF-cleaving protease in a Salvadoran congenital thrombotic thrombocytopenic purpura family
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None linked
|
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| 116 | 2014 | El Sissy MH |
Low incidence of ADAMTS13 missense mutation R1060W in adult Egyptian patients with thrombotic thrombocytopenic purpura
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None linked
|
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| 119 | 2014 | Metin A |
Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated Turkish children
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None linked
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| 120 | 2014 | Rank CU |
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene
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None linked
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| 121 | 2014 | Tanaka H |
Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy
|
None linked
|
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| 122 | 2014 | Bennett M |
Experiences in a family with the Upshaw-Schulman syndrome over a 44-year period
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None linked
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|
| 238 | 2014 | Pérez-Rodríguez A |
A novel mutation in ADAMTS13 of a child with Upshaw-Schulman Syndrome
|
None linked
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| 240 | 2014 | Scully M |
Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes
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None linked
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|
| 241 | 2014 | von Krogh AS |
The impact of congenital thrombotic thrombocytopenic purpura on pregnancy complications
|
None linked
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|
| 242 | 2014 | Morioka M |
A first bout of thrombotic thrombocytopenic purpura triggered by herpes simplex infection in a 45-year-old nulliparous female with Upshaw-Schulman syndrome
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None linked
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| 117 | 2013 | Drews K |
Inherited thrombotic thrombocytopenic purpura in pregnancy
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None linked
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| 118 | 2013 | Thornton KM |
An unusual case of rapidly progressive hyperbilirubinemia
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None linked
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| 123 | 2013 | Mise K |
Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report
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None linked
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| 124 | 2013 | Borgi A |
Congenital Thrombotic Thrombocytopenic Purpura: Atypical Presentation and New ADAMTS 13 Mutation in a Tunisian Child
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None linked
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| 125 | 2013 | Miyata T |
ADAMTS13 activity and genetic mutations in Japan
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None linked
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| 126 | 2013 | Hyla-Klekot L |
[Variety of thrombotic thrombocytopenic purpura clinical course in Polish family members with ADAMTS 13 gene mutation]
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None linked
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| 127 | 2013 | Alsultan A |
Novel frameshift mutations in ADAMTS13 in two families with hereditary thrombotic thrombocytopenic purpura
|
None linked
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| 128 | 2013 | Kentouche K |
Pregnancy in Upshaw-Schulman syndrome
|
None linked
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| 129 | 2013 | Boctor FN |
Thrombotic thrombocytopenic purpura with unusual 33 recurrences: a case report
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None linked
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| 130 | 2013 | Loirat C |
Thrombotic thrombocytopenic purpura in children
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None linked
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| 131 | 2013 | Hing ZA |
Multiple in silico tools predict phenotypic manifestations in congenital thrombotic thrombocytopenic purpura
|
None linked
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| 132 | 2013 | Deal T |
Novel ADAMTS13 mutations in an obstetric patient with Upshaw-Schulman syndrome
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None linked
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| 134 | 2013 | Naik S |
Successful treatment of congenital TTP with a novel approach using plasma-derived factor VIII
|
None linked
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| 135 | 2013 | Rossio R |
Two novel heterozygote missense mutations of the ADAMTS13 gene in a child with recurrent thrombotic thrombocytopenic purpura
|
None linked
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| 136 | 2013 | Lotta LA |
Drop of residual plasmatic activity of ADAMTS13 to undetectable levels during acute disease in a patient with adult-onset congenital thrombotic thrombocytopenic purpura
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None linked
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|
| 243 | 2013 | Rurali E |
ADAMTS13 predicts renal and cardiovascular events in type 2 diabetic patients and response to therapy
|
None linked
|
|
| 244 | 2013 | Mansouri Taleghani M |
Hereditary thrombotic thrombocytopenic purpura and the hereditary TTP registry
|
None linked
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|
| 245 | 2013 | Lotta LA |
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis
|
None linked
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|
| 293 | 2013 | Idowu M |
Atypical thrombotic thrombocytopenic purpura in a middle-aged woman who presented with a recurrent stroke
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None linked
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|
| 311 | 2013 | Bai X |
PA 4.19-4Characterization of hereditary thromboticthrombocytopenic purpura (TTP) from one of bloodcenters in China
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None linked
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|
| 133 | 2012 | Steele M |
Thrombotic thrombocytopenic purpura in pediatric patients
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None linked
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| 137 | 2012 | George JN |
Ten patient stories illustrating the extraordinarily diverse clinical features of patients with thrombotic thrombocytopenic purpura and severe ADAMTS13 deficiency
|
None linked
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| 138 | 2012 | Lee AC |
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
|
None linked
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| 139 | 2012 | Camilleri RS |
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
|
None linked
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|
| 140 | 2012 | Moatti-Cohen M |
Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
|
None linked
|
|
| 141 | 2012 | Prestidge TD |
Congenital thrombotic thrombocytopenic purpura (cTTP) with two novel mutations
|
None linked
|
|
| 142 | 2012 | Jain P |
Congenital thrombotic thrombocytopenic purpura associated with moyamoya syndrome in a 3-year-old girl: a case report
|
None linked
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|
| 143 | 2012 | Yagi H |
Paradigm shift of childhood thrombotic thrombocytopenic purpura with severe ADAMTS13 deficiency
|
None linked
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|
| 246 | 2012 | Tanabe S |
Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses
|
None linked
|
|
| 247 | 2012 | Jamale TE |
Hereditary ADAMTS 13 deficiency presenting as recurrent acute kidney injury
|
None linked
|
|
| 248 | 2012 | Edwards NC |
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches
|
None linked
|
|
| 249 | 2012 | Calderazzo JC |
A new ADAMTS13 missense mutation (D1362V) in thrombotic thrombocytopenic purpura diagnosed during pregnancy
|
None linked
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|
| 250 | 2012 | Taguchi F |
The homozygous p.C1024R- ADAMTS13 gene mutation links to a late-onset phenotype of Upshaw-Schulman syndrome in Japan
|
None linked
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|
| 251 | 2012 | Jian C |
Gain-of-function ADAMTS13 variants that are resistant to autoantibodies against ADAMTS13 in patients with acquired thrombotic thrombocytopenic purpura
|
None linked
|
|
| 252 | 2012 | Fujioka M |
ADAMTS13 gene deletion enhances plasma high-mobility group box1 elevation and neuroinflammation in brain ischemia-reperfusion injury
|
None linked
|
|
| 312 | 2012 | Bai X |
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
|
None linked
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|
| 313 | 2012 | Lotta LA |
Residual plasmatic activity of ADAMTS13 is correlated with phenotype severity in congenital thrombotic thrombocytopenic purpura
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None linked
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| 144 | 2011 | Lee SH |
A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura
|
None linked
|
|
| 145 | 2011 | Fujimura Y |
Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan
|
None linked
|
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| 146 | 2011 | Richter J |
Successful management of a planned pregnancy in severe congenital thrombotic thrombocytopaenic purpura: the Upshaw-Schulman syndrome
|
None linked
|
|
| 253 | 2011 | Tseng SC |
SNPs in ADAMTS13
|
None linked
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| 254 | 2011 | Kokame K |
Polymorphisms and mutations of ADAMTS13 in the Japanese population and estimation of the number of patients with Upshaw-Schulman syndrome
|
None linked
|
|
| 255 | 2011 | Schiller O |
Postoperative thrombotic thrombocytopenic purpura in an infant: case report and literature review
|
None linked
|
|
| 256 | 2011 | Choi HS |
ADAMTS13 gene mutations in children with hemolytic uremic syndrome
|
None linked
|
|
| 259 | 2011 | Bittar LF |
Polymorphisms and mutations in vWF and ADAMTS13 genes and their correlation with plasma levels of FVIII and vWF in patients with deep venous thrombosis
|
None linked
|
|
| 147 | 2010 | Lee AC |
Image in medicine. A case of congenital haemolytic anaemia and thrombocytopenia. Upshaw-Schulman syndrome (congenital thrombotic thrombocytopenic purpura)
|
None linked
|
|
| 148 | 2010 | Meti S |
Successful pregnancy in a case of congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 149 | 2010 | John BM |
Upshaw-Schulman Syndrome
|
None linked
|
|
| 150 | 2010 | Klukowska A |
Difficulties in diagnosing congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 151 | 2010 | Fujimura Y |
Registry of 919 patients with thrombotic microangiopathies across Japan: database of Nara Medical University during 1998-2008
|
None linked
|
|
| 152 | 2010 | Lotta LA |
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 257 | 2010 | He Y |
Clinical study on five cases of thrombotic thrombocytopenic purpura complicating pregnancy
|
None linked
|
|
| 258 | 2010 | Noris M |
Genetics and genetic testing in hemolytic uremic syndrome/thrombotic thrombocytopenic purpura
|
None linked
|
|
| 260 | 2010 | Shomron N |
A splice variant of ADAMTS13 is expressed in human hepatic stellate cells and cancerous tissues
|
None linked
|
|
| 261 | 2010 | Fujioka M |
ADAMTS13 gene deletion aggravates ischemic brain damage: a possible neuroprotective role of ADAMTS13 by ameliorating postischemic hypoperfusion
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None linked
|
|
| 262 | 2010 | Schettert IT |
Association between ADAMTS13 polymorphisms and risk of cardiovascular events in chronic coronary disease
|
None linked
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|
| 153 | 2009 | Feys HB |
Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 154 | 2009 | Cermáková Z |
Thrombotic thrombocytopenic purpura: incidence of congenital form of disease in north Moravia (region Moravia-Silesia)
|
None linked
|
|
| 155 | 2009 | Lindblom A |
Minor stroke as singular manifestation of hereditary thrombotic thrombocytopenic purpura in a young man
|
None linked
|
|
| 157 | 2009 | Fujimura Y |
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients
|
None linked
|
|
| 263 | 2009 | Galbusera M |
Inherited thrombotic thrombocytopenic purpura
|
None linked
|
|
| 264 | 2009 | Palla R |
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura
|
None linked
|
|
| 265 | 2009 | Zhou Z |
Effects of naturally occurring mutations in CUB-1 domain on synthesis, stability, and activity of ADAMTS-13
|
None linked
|
|
| 267 | 2009 | Loirat C |
Thrombotic thrombocytopenic purpura related to severe ADAMTS13 deficiency in children
|
None linked
|
|
| 156 | 2008 | Kokame K |
[Genetic polymorphism of von Willebrand factor (VWF)-cleaving protease, ADAMTS13]
|
None linked
|
|
| 158 | 2008 | Scully M |
Regional UK TTP registry: correlation with laboratory ADAMTS 13 analysis and clinical features
|
None linked
|
|
| 159 | 2008 | Park HW |
Congenital thrombotic thrombocytopenic purpura associated with unilateral moyamoya disease
|
None linked
|
|
| 160 | 2008 | Meyer SC |
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13
|
None linked
|
|
| 161 | 2008 | Camilleri RS |
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
|
None linked
|
|
| 266 | 2008 | Garagiola I |
Nonsense-mediated mRNA decay in the ADAMTS13 gene caused by a 29-nucleotide deletion
|
None linked
|
|
| 268 | 2008 | Garcia-Hejl C |
[Thrombotic thrombocytopenic purpura: a case report]
|
None linked
|
|
| 270 | 2008 | Kokame K |
Inherited and de novo mutations of ADAMTS13 in a patient with Upshaw-Schulman syndrome
|
None linked
|
|
| 294 | 2008 | Michaels LA |
Inherited ADAMTS13 deficiency: Unique presentation and treatment
|
None linked
|
|
| 162 | 2007 | Hommais A |
Molecular characterization of four ADAMTS13 mutations responsible for congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)
|
None linked
|
|
| 163 | 2007 | Sudour H |
[Thrombotic thrombocytopenic purpura in a newborn]
|
None linked
|
|
| 269 | 2007 | Gerth J |
Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both?
|
None linked
|
|
| 271 | 2007 | Davis A |
Thrombotic thrombocytopenic purpura in childhood: an uncommon but life-threatening cause of thrombocytopenia
|
None linked
|
|
| 164 | 2006 | Donadelli R |
In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura
|
None linked
|
|
| 165 | 2006 | Schneppenheim R |
A common origin of the 4143insA ADAMTS13 mutation
|
None linked
|
|
| 166 | 2006 | Tao Z |
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura
|
None linked
|
|
| 167 | 2006 | Liu F |
[Determination of the ADAMTS13 antigen and its activity in TTP patients and carriers]
|
None linked
|
|
| 168 | 2006 | Loirat C |
Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children
|
None linked
|
|
| 170 | 2006 | Rodrigues RG |
Two generations with familial thrombotic thrombocytopenic purpura
|
None linked
|
|
| 171 | 2006 | Plaimauer B |
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation
|
None linked
|
|
| 272 | 2006 | Hrachovinová I |
[Hereditary form of thrombotic thrombocytopenic purpura]
|
None linked
|
|
| 274 | 2006 | Peyvandi F |
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
|
None linked
|
|
| 275 | 2006 | Shibagaki Y |
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
|
None linked
|
|
| 169 | 2005 | Liu F |
[Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura]
|
None linked
|
|
| 173 | 2005 | Studt JD |
Fatal congenital thrombotic thrombocytopenic purpura with apparent ADAMTS13 inhibitor: in vitro inhibition of ADAMTS13 activity by hemoglobin
|
None linked
|
|
| 273 | 2005 | Korczowski B |
[Thrombotic thrombocytopenic purpura in children -- pathophysiologic mechanisms and their clinical significance]
|
None linked
|
|
| 298 | 2005 | Noris M |
International Registry of Recurrent and Familial HUS/TTP. Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement
|
None linked
|
|
| 172 | 2004 | Snider CE |
Dissociation between the level of von Willebrand factor-cleaving protease activity and disease in a patient with congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 174 | 2004 | Schiff DE |
Thrombocytopenia and severe hyperbilirubinemia in the neonatal period secondary to congenital thrombotic thrombocytopenic purpura and ADAMTS13 deficiency
|
None linked
|
|
| 175 | 2004 | Uchida T |
Identification of novel mutations in ADAMTS13 in an adult patient with congenital thrombotic thrombocytopenic purpura
|
None linked
|
|
| 176 | 2004 | Zhou W |
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
|
None linked
|
|
| 177 | 2004 | Veyradier A |
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome)
|
None linked
|
|
| 178 | 2004 | Kokame K |
Genetic defects leading to hereditary thrombotic thrombocytopenic purpura
|
None linked
|
|
| 180 | 2004 | Matsumoto M |
Molecular characterization of ADAMTS13 gene mutations in Japanese patients with Upshaw-Schulman syndrome
|
None linked
|
|
| 181 | 2004 | Pimanda JE |
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
|
None linked
|
|
| 276 | 2004 | Licht C |
Two novel ADAMTS13 gene mutations in thrombotic thrombocytopenic purpura/hemolytic-uremic syndrome (TTP/HUS)
|
None linked
|
|
| 277 | 2004 | Ruan C |
The frequency of P475S polymorphism in von Willebrand factor-cleaving protease in the Chinese population and its relevance to arterial thrombotic disorders
|
None linked
|
|
| 297 | 2004 | Schneppenheim R |
Severe ADAMTS-13 deficiency in childhood.
|
None linked
|
|
| 302 | 2004 | Peyvandi F |
von Willebrand factor cleaving protease (ADAMTS-13) and ADAMTS-13 neutralizing autoantibodies in 100 patients with thrombotic thrombocytopenic purpura
|
None linked
|
|
| 179 | 2003 | Schiphorst RH |
[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]
|
None linked
|
|
| 182 | 2003 | Assink K |
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency
|
None linked
|
|
| 183 | 2003 | Antoine G |
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13
|
None linked
|
|
| 184 | 2003 | Savasan S |
ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity
|
None linked
|
|
| 185 | 2003 | Jubinsky PT |
Thrombotic thrombocytopenic purpura in a newborn
|
None linked
|
|
| 187 | 2003 | Schneppenheim R |
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
|
None linked
|
|
| 278 | 2003 | Bestetti G |
ADAMTS 13 genotype and vWF protease activity in an Italian family with TTP
|
None linked
|
|
| 186 | 2002 | Kentouche K |
Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
|
None linked
|
|
| 188 | 2002 | Kokame K |
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
|
None linked
|
|
| 189 | 2001 | Levy GG |
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
|
None linked
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| 279 |
None linked
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| 280 |
None linked
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| 281 |
None linked
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| 283 |
None linked
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| 288 |
None linked
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| 295 |
None linked
|