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Autore [ Titolo] Tipo Anno Filtri: First Letter Of Title è M and Autore is De Rocco, Daniela [Clear All Filters]
Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology. Haematologica 2014;99(6):1022-31.
. Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 2011;117(24):6673-80.
. Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2. Am J Hum Genet 2011;88(1):115-20.
. Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. Biochim Biophys Acta 2014;1842(2):269-74.
. Mutations of RUNX1 in families with inherited thrombocytopenia. Am J Hematol 2017;92(6):E86-E88.
. MYH9 gene mutations associated with bleeding. Platelets 2017;28(3):312-315.
. MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. Hum Mutat 2014;35(2):236-47.
. MYH9-related disease: five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations. Eur J Med Genet 2013;56(1):7-12.
. MYH9-related disease: Report on five German families and description of a novel mutation. Ann Hematol 2010;89(10):1057-9.
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