Disease: Giant Platelet Syndrome
- A <em>GP1BA</em> Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
- A cohort study and matched pair analysis evaluating the effects of the COVID-19 pandemic on access to dental care for people with inherited bleeding disorders
- A Comprehensive Review of Congenital Platelet Disorders, Thrombocytopenias and Thrombocytopathies
- A familial case of MYH9 gene mutation associated with multiple functional and structural platelet abnormalities
- A GP1BA Variant in a Czech Family with Monoallelic Bernard-Soulier Syndrome
- A homozygous loss-of-function mutation in GP1BB causing variable clinical phenotypes in a family with Bernard-Soulier syndrome
- A novel frameshift <em>GP1BB</em> mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation
- A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation
- A Novel Mutation in <em>GP1BB</em> Reveals the Role of the Cytoplasmic Domain of GPIbβ in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
- A novel mutation in GP1BA gene in a family with autosomal dominant Bernard Soulier syndrome variant: A case report
- A Novel Mutation in GP1BB Reveals the Role of the Cytoplasmic Domain of GPIbbeta in the Pathophysiology of Bernard-Soulier Syndrome and GPIb-IX Complex Assembly
- A Rare Case of Micro-Angiopathic Hemolytic Anemia Due to Envenoming by Giant Asian Honey Bee (Apis dorsata)
- A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia
- Abnormal platelet immunophenotypes and percentage of giant platelets in myelodysplastic syndrome: A pilot study
- Acquired Bernard-Soulier syndrome and hypodysfibrinogenaemia because of multiple myeloma
- Acute Immune Thrombocytopenia following administration of Shingrix recombinant zoster vaccine
- Anemia-Induced Bleeding in Patients with Platelet Disorders
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Arthrogryposis–renal dysfunction–cholestasis syndrome
- Bernard Soulier syndrome: A case report from Pakistan
- Bernard Soulier syndrome: a rare, frequently misdiagnosed and poorly managed bleeding disorder
- Bernard-Soulier Syndrome
- Bernard-Soulier Syndrome
- Bernard-Soulier syndrome (BSS) with uncontrollable menorrhagia
- Bernard-Soulier syndrome caused by a novel GP1BB variant and 22q11.2 deletion
- Bernard-Soulier syndrome caused by two novel heterozygous GP1BA gene mutations: a case report and literature review
- Bernard-Soulier Syndrome from the Perspective of the Obstetrician: A Case Report with a Review of the Literature
- Bernard-Soulier syndrome in pregnancy with retinal detachment: a rare phenomenon
- Biological, clinical features and modelling of heterozygous variants of glycoprotein Ib platelet subunit alpha (GP1BA) and glycoprotein Ib platelet subunit beta (GP1BB) genes responsible for constitutional thrombocytopenia
- Blood donor biobank as a resource in personalised biomedical genetic research
- Calciphylaxis, beware the ophthalmic mimic: A case series
- Characterization of zebrafish gp1ba mutant and modelling Bernard Soulier syndrome
- Clinical Dilemma, Bernard Soulier Syndrome <em>versus</em> Immune Thrombocytopenic Purpura: A Case Report
- Clinical Dilemma, Bernard Soulier Syndrome versus Immune Thrombocytopenic Purpura: A Case Report
- Clinical study on the role of platelet-rich plasma in human acellular dermal matrix with razor autologous skin graft repair of giant congenital pigmented nevus in children
- Coronary artery vasculitis: a review of current literature
- Detection of alloimmunization in Glanzmann Thrombasthenia and Bernard-Soulier Syndrome: Data from a Brazilian Center
- Diagnostic Challenges in Children With Congenital Bleeding Disorders: A Developing Country Perspective
- Diagnostic workup of inherited platelet disorders
- Elevated CD9 expression as a potential biomarker for diagnosis of Bernard-Soulier syndrome
- Establishment of a Bernard-Soulier syndrome model in zebrafish
- Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts
- Experience of kidney transplantation to a patient with Bernard Soulier syndrome: A case report
- Flow cytometry immunophenotyping of healthy platelets and hospitalized patients with suspected platelet dysfunction: Challenges for establishing a cutoff value
- Frenemies within: An Endocarditis Case in Behçet's Disease
- Frequency, clinical, and laboratory findings of platelet secretion disorders in patients referred to the specialized coagulation laboratory of the Iranian Blood Transfusion Organization
- 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
- 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
- GPIbα is the driving force of hepatic thrombopoietin generation
- Hypereosinophilic Syndrome with Endomyocarditis: Identification by Next-Generation Sequencing of the JAK2-V617F Mutation
- Impact of extracorporeal membrane oxygenation treatments on acquired von Willebrand syndrome in patients with out-of-hospital cardiac arrest: a retrospective observational study
- Invasive procedures in the oral cavity of individuals with Bernard-Soulier syndrome: An integrative review
- Iron deficiency anemia and bleeding management in pediatric patients with Bernard-Soulier syndrome and Glanzmann Thrombasthenia: A single-institution analysis
- Laparoscopic cholecystectomy for symptomatic cholecystolithiasis (CCL) in "Kasabach-Merritt syndrome" (KMS) (Kaposi-tumor like hemangioendothelioma with case-specific perioperative management)
- Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
- Lentiviral gene therapy reverts GPIX expression and phenotype in Bernard-Soulier syndrome type C
- Medich Giant Platelet Syndrome: An Evolving Qualitative and Quantitative Platelet Disorder
- Membrane procoagulation and N-terminomics/TAILS profiling in Montreal platelet syndrome kindred with VWF p.V1316M mutation
- Membrane procoagulation and N‑terminomics/TAILS profiling in Montreal platelet syndrome kindred with VWF p.V1316M mutation
- Modeling of lung phenotype of Hermansky-Pudlak syndrome type I using patient-specific iPSCs
- Modelling Takenouchi-Kosaki syndrome using disease-specific iPSCs
- Multivessel Percutaneous Coronary Intervention in a Patient With Bernard-Soulier Syndrome
- Murine models of glycoprotein Ib-IX
- MYH9-related disease with a normal platelet count
- Myocardial infarction due to thrombotic occlusion despite anticoagulation in Kawasaki disease - a case report
- Novel Compound Heterozygous Mutations in Two Families With Bernard-Soulier Syndrome
- Novel GPIb-independent platelet aggregation induced by botrocetin: Implications for diagnosis and antithrombotic therapy
- Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome
- Opening Pandora's box: abnormal genetic carrier screening and need for lifetime follow-up
- Perforated hemorrhagic cholecystitis in a patient with Bernard-Soulier syndrome
- Perioperative Management of a Frail Patient With Bernard-Soulier Syndrome
- Perioperative Management of a Patient With Combined Bernard Soulier syndrome and Storage Pool Disease During On-Pump Cardiac Surgery
- Phenotypic characteristics of peripheral immune cells of Myalgic encephalomyelitis/chronic fatigue syndrome via transmission electron microscopy: A pilot study
- Physiology, Von Willebrand Factor
- Physiology, Von Willebrand Factor
- Platelet features allow to differentiate immune thrombocytopenia from inherited thrombocytopenia
- Point-of-care platelet function testing results in a dog with Bernard-Soulier syndrome
- Predictive factors of medium-giant coronary artery aneurysms in Kawasaki disease
- Pregnancy Outcome in Bernard-Soulier Syndrome
- Prevalence of constitutional macrothrombocytopenia in the immigrants of Northern and Eastern states of India
- Primary Hemostasis Disorders as a Cause of Heavy Menstrual Bleeding in Women of Reproductive Age
- Recurrent melena in a diagnosed case of Bernard Soulier syndrome
- Regulation of platelet numbers and sizes by signaling pathways
- Renal Biopsy-induced Hematoma and Infection in a Patient with Asymptomatic May-Hegglin Anomaly
- S100A8/A9 drives the formation of procoagulant platelets through GPIbα
- Should HLA and HPA-matched platelet transfusions for patients with Glanzmann Thrombasthenia or Bernard-Soulier syndrome be standardized care? A Dutch survey and recommendations
- Spontaneous thrombosis of a giant cavernous-carotid aneurysm with simultaneous ipsilateral complete parent artery occlusion: a rare phenomenon and review of the literature
- Stability and utility of flow cytometric platelet activation tests: A modality to bridge the gap between diagnostic demand and supply
- Successful management of a retrosternal goiter in a patient with Bernard-Soulier syndrome
- Successful management of severe gastrointestinal bleeding from jejunal angiodysplasia in a patient with Bernard-Soulier syndrome
- Successful pregnancy and delivery management in a patient with Bernard Soulier Syndrome
- Surgical management of a 25-cm giant hepatic haemangioma: First case report from Bangladesh with literature review
- The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB
- The Copenhagen founder variant GP1BA c.58T>G is the most frequent cause of inherited thrombocytopenia in Denmark
- The GPIb-IX complex on platelets: insight into its novel physiological functions affecting immune surveillance, hepatic thrombopoietin generation, platelet clearance and its relevance for cancer development and metastasis
- Transient abnormal myelopoiesis with extramedullary involvement in a down syndrome preemie leading to an unresponsive course despite chemotherapy
- Utility of the Platelet Function Analyzer in Patients with Suspected Platelet Function Disorders: Diagnostic Accuracy Study
- Whole exome sequencing for diagnosis of hereditary thrombocytopenia
- Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative
- Why thromboembolism occurs in some patients with thrombocytopenia and treatment strategies