Associated Papers
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
Defective binding of ETS1 and STAT4 due to a mutation in the promoter region of THPO as a novel mechanism of congenital amegakaryocytic thrombocytopenia.
Capaci V et al.
Haematologica, 2023
Generation of a thrombopoietin-deficient thrombocytopenia model in zebrafish.
Yang L et al.
Journal of Thrombosis and Haemostasis : Jth, 2022
Monoallelic loss-of-function THPO variants cause heritable thrombocytopenia.
Cornish N et al.
Blood Advances, 2020
Recent advances in inherited platelet disorders.
Pluthero FG et al.
Current Opinion in Hematology, 2019
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene.
Noris P et al.
British Journal of Haematology, 2018
Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.
Plo I et al.
Frontiers in Endocrinology, 2017
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