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A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10190, doi. 10.3390/ijms221910190
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- Article
Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation.
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- Journal of Clinical Investigation, 2014, v. 124, n. 2, p. 580, doi. 10.1172/JCI71861
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- Article
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia.
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- British Journal of Haematology, 2018, v. 183, n. 2, p. 276, doi. 10.1111/bjh.15531
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- Article
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.
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- British Journal of Haematology, 2018, v. 181, n. 5, p. 698, doi. 10.1111/bjh.14694
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- Article
MYH9-related thrombocytopenia and intracranial bleedings: a complex clinical/surgical management and review of the literature.
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- British Journal of Haematology, 2015, v. 170, n. 5, p. 729, doi. 10.1111/bjh.13324
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- Article
Analysis of 65 pregnancies in 34 women with five different forms of inherited platelet function disorders.
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- British Journal of Haematology, 2015, v. 170, n. 4, p. 559, doi. 10.1111/bjh.13458
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- Article
Mean platelet volume for distinguishing between inherited thrombocytopenias and immune thrombocytopenia - response to Beyan.
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- British Journal of Haematology, 2013, v. 163, n. 3, p. 413, doi. 10.1111/bjh.12504
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- Article
Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study.
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- British Journal of Haematology, 2013, v. 162, n. 1, p. 112, doi. 10.1111/bjh.12349
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- Article
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia.
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- Nature Genetics, 2015, v. 47, n. 5, p. 535, doi. 10.1038/ng.3253
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- Article
Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0035986
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- Article
GP1BB c.179C > T is the most frequent cause of monoallelic Bernard–Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.
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- Annals of Hematology, 2023, v. 102, n. 3, p. 677, doi. 10.1007/s00277-022-05079-0
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- Article
Bacillary hepatic peliosis associated with intercostal pseudoaneurysm.
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- Liver International, 2021, v. 41, n. 3, p. 621, doi. 10.1111/liv.14733
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- Article
Clonal chromosome anomalies affecting FLI1 mimic inherited thrombocytopenia of the Paris-Trousseau type.
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- European Journal of Haematology, 2012, v. 89, n. 4, p. 345, doi. 10.1111/j.1600-0609.2012.01833.x
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- Article
Autologous Platelet Collection and Storage to Support Thrombocytopenia in Patients Undergoing High-Dose Chemotherapy and Circulating Progenitor Cell Transplantation forHigh-Risk Breast Cancer.
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- Vox Sanguinis, 1998, v. 75, n. 3, p. 224, doi. 10.1159/000030991
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- Article
Platelet aggregation in platelet rich plasma and whole blood in 18 patients affected by idiopathic myelofibrosis.
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- European Journal of Haematology, 1988, v. 41, n. 3, p. 267, doi. 10.1111/j.1600-0609.1988.tb01191.x
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- Article
High versus standard dose methylprednisolone in the acute phase of idiopathic thrombotic thrombocytopenic purpura: a randomized study.
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- Annals of Hematology, 2010, v. 89, n. 6, p. 591, doi. 10.1007/s00277-009-0877-5
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- Article
Mutations of RUNX1 in families with inherited thrombocytopenia.
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- American Journal of Hematology, 2017, v. 92, n. 6, p. E86, doi. 10.1002/ajh.24703
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- Article
Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms.
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- Journal of Hematology & Oncology, 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13045-015-0169-6
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- Article
Particulate cytoplasmic structures with high concentration of ubiquitin-proteasome accumulate in myeloid neoplasms.
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- Journal of Hematology & Oncology, 2015, v. 8, n. 1, p. 71, doi. 10.1186/s13045-015-0169-6
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- Article
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9 -related disorders.
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- British Journal of Haematology, 2002, v. 117, n. 1, p. 164, doi. 10.1046/j.1365-2141.2002.03385.x
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- Article
Donor–recipient incompatibility at CD31-codon 563 is a major risk factor for acute graft-versus-host disease after allogeneic bone marrow transplantation from a human leucocyte antigen-matched donor.
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- British Journal of Haematology, 2001, v. 114, n. 4, p. 951, doi. 10.1046/j.1365-2141.2001.03035.x
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- Article
Spectrum of the Mutations in Bernard- Soulier Syndrome.
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- Human Mutation, 2014, v. 35, n. 9, p. 1033, doi. 10.1002/humu.22607
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- Article
MYH9-Related Disease: A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations.
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- Human Mutation, 2014, v. 35, n. 2, p. 236, doi. 10.1002/humu.22476
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- Article
Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.
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- Human Molecular Genetics, 2005, v. 14, n. 21, p. 3169, doi. 10.1093/hmg/ddi344
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- Article
Correction to: Venous thromboembolism and COVID-19: a single center experience from an academic tertiary referral hospital of Northern Italy.
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- 2021
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- Correction Notice
Venous thromboembolism and COVID-19: a single center experience from an academic tertiary referral hospital of Northern Italy.
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- Internal & Emergency Medicine, 2021, v. 16, n. 5, p. 1141, doi. 10.1007/s11739-020-02550-6
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- Article
Peripheral arteriopathy of the lower limbs in a patient with severe congenital thrombocytopenia.
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- 2006
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- Case Study
Transfusion of platelet concentrates cryopreserved with ThromboSol plus low-dose dimethylsulphoxide in patients with severe thrombocytopenia: a pilot study.
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- British Journal of Haematology, 2000, v. 108, n. 3, p. 653, doi. 10.1046/j.1365-2141.2000.01860.x
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- Article
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.
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- British Journal of Haematology, 1998, v. 103, n. 4, p. 1004, doi. 10.1046/j.1365-2141.1998.01100.x
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- Article
Thrombopoietin levels in patients with primary and reactive thrombocytosis.
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- British Journal of Haematology, 1997, v. 99, n. 2, p. 281, doi. 10.1046/j.1365-2141.1997.3823196.x
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- Article
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.
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- British Journal of Haematology, 1997, v. 97, n. 2, p. 312, doi. 10.1046/j.1365-2141.1997.582706.x
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- Article
Acquired cyclic thrombocytopenia-thrombocytosis with periodic defect of platelet function.
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- British Journal of Haematology, 1993, v. 85, n. 4, p. 718, doi. 10.1111/j.1365-2141.1993.tb03214.x
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- Article