Results 211 to 220 of about 13,796 (248)
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Hamostaseologie, 2012
SummaryThe chapter of inherited thrombocytopenias has expanded greatly over the last decade and many “new” forms deriving from mutations in “new” genes have been identified. Nevertheless, nearly half of patients remain without a definite diagnosis because their illnesses have not yet been described.
Carlo Balduini +2 more
exaly +4 more sources
SummaryThe chapter of inherited thrombocytopenias has expanded greatly over the last decade and many “new” forms deriving from mutations in “new” genes have been identified. Nevertheless, nearly half of patients remain without a definite diagnosis because their illnesses have not yet been described.
Carlo Balduini +2 more
exaly +4 more sources
Genetics of inherited thrombocytopenias
Blood, 2022Abstract The inherited thrombocytopenia syndromes are a group of disorders characterized primarily by quantitative defects in platelet number, though with a variety demonstrating qualitative defects and/or extrahematopoietic findings. Through collaborative international efforts applying next-generation sequencing approaches, the list of ...
Julia T. Warren, Jorge Di Paola
openaire +2 more sources
Inherited thrombocytopenias: an updated guide for clinicians
Blood Reviews, 2021The great advances in the knowledge of inherited thrombocytopenias (ITs) made since the turn of the century have significantly changed our view of these conditions. To date, ITs encompass 45 disorders with different degrees of complexity of the clinical picture and very wide variability in the prognosis.
Carlo Balduini, Alessandro Pecci
exaly +4 more sources
Diagnosis and Management of Inherited Thrombocytopenias
Seminars in Thrombosis and Hemostasis, 2013The number of recognized causes of inherited thrombocytopenias has grown in the past 10 years and there are now more than 18 thrombocytopenic disorders with characterized genetic mutations. Moreover, the pathogenic mechanisms of many forms of inherited thrombocytopenia have been identified and prognosis of different disorders, ranging from unfavorable ...
Carlo Balduini +2 more
exaly +4 more sources
Inherited Thrombocytopenias: Molecular Mechanisms
Seminars in Thrombosis and Hemostasis, 2004Each megakaryocyte forms 10(3) platelets and 10(11) platelets are replenished daily. The unique and amazing mechanisms that allow megakaryocytes to become giant and polyploid and to release such a large number of platelets are still poorly understood.
Carlo Balduini, Anna Savoia
exaly +5 more sources
Inherited thrombocytopenias frequently diagnosed in adults
Journal of Thrombosis and Haemostasis, 2013The diagnosis of inherited thrombocytopenias is difficult, for many reasons. First, as they are all rare diseases, they are little known by clinicians, who therefore tend to suspect the most common forms. Second, making a definite diagnosis often requires complex laboratory techniques that are available in only a few centers.
Carlo Balduini, Anna Savoia
exaly +7 more sources
Eltrombopag for the Treatment of Severe Inherited Thrombocytopenia
Acta Haematologica, 2020Inherited thrombocytopenias correspond to a group of hereditary disorders characterized by a reduced platelet count, platelet dysfunction, and a family history of thrombocytopenia. It is commonly associated with mucocutaneous bleeding. Thrombocytopenia results from mutations in genes involved in megakaryocyte differentiation, platelet formation, and ...
Karim, Abdelmoumen +6 more
openaire +2 more sources