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RUNX1 deficiency (familial platelet disorder with predisposition to myeloid leukemia, FPDMM)
(Elsevier Inc, 2017-04)
In this review, we discuss disease-causing alterations of RUNT-related transcription factor 1 (RUNX1), a master regulator of hematopoietic differentiation. Familial platelet disorder with predisposition to myeloid leukemia ...
Laboratory Assessment of Familial, Nonthrombocytopenic Bleeding: A Definitive Not Possible Mucocutaneous Diagnosis Is Often Not Possible
(THIEME MEDICAL PUBL INC, 2008)
Patients with inherited mucocutaneous bleeding (MCB) pose frequent and significant diagnostic challenges. Bleeding symptoms are frequent among the otherwise healthy population, and the clinical distinction between normal ...
First description of revertant mosaicism in familial platelet disorder with predisposition to acute myelogenous leukemia: correlation with the clinical phenotype
(Ferrata Storti Foundation, 2020-10)
Familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML) is an autosomal dominant condition characterized by abnormal platelet number and function and 30-60% risk of hematologic malignancies, ...
Mechanisms underlying platelet function defect in a pedigree with familial platelet disorder with a predisposition to acute myelogenous leukemia: potential role for candidate RUNX1 targets
(Wiley, 2014-05)
Background: Familial platelet disorder with a predisposition to acute myelogenous leukemia (FPD/AML) is an inherited platelet disorder caused by a germline RUNX1 mutation and characterized by thrombocytopenia, a platelet ...
Downregulation of TREM-like transcript (TLT)-1 and collagen receptor α2 subunit, two novel RUNX1-targets, contributes to platelet dysfunction in familial platelet disorder with predisposition to acute myelogenous leukemia
(Ferrata Storti Foundation, 2018-12)
Germline RUNX1 mutations lead to thrombocytopenia and platelet dysfunction in familialplatelet disorder with predisposition to acute myelogenous leukemia. Multiple aspects ofplatelet function are impaired in these patients, ...
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
(Wiley Blackwell Publishing, Inc, 2012-08)
Inherited thrombocytopenias (ITs) are heterogeneous genetic disorders that frequently represent a diagnostic challenge. The requirement of highly specialized tests for diagnosis represents a particular problem in resourcelimited ...
Frequency of Platelet type versus Type 2B von Willebrand Disease An international registry-based study
(Schattauer Gmbh-verlag Medizin NaturwissenschaftenStuttgartAlemanha, 2011)
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency
(Ferrata Storti Foundation, 2013-06)
The gray platelet syndrome is a rare inherited bleeding disorder characterized by macrothrombocytopenia and deficiency of alpha (α)-granules in platelets. The genetic defect responsible for gray platelet syndrome was ...
Trastornos plaquetarios primarios en la especie humana: Aspectos biomédicos: biología, patobiología y bioclínica
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2007-09-01)
Mutations of RUNX1 in families with inherited thrombocytopenia
(Wiley-liss, Div John Wiley & Sons Inc, 2017-06)
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is a rare autosomal dominant form of thrombocytopenia associated with an increased risk of myelodysplastic syndrome and acute myeloid leukemia (AML) ...