Export 22 results:
Autore [ Titolo] Tipo Anno Filtri: Autore è De Rocco, Daniela [Clear All Filters]
. .
Impaired immune response to Candida albicans in cells from Fanconi anemia patients. Cytokine 2015;73(1):203-7.
. Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia. Haematologica 2018;103(3):417-426.
. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet 2015;47(5):535-8.
. A G to C transversion at the last nucleotide of exon 25 of the MYH9 gene results in a missense mutation rather than in a splicing defect. Eur J Med Genet 2010;53(5):256-60.
. Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica 2016;
. Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIbα (Bolzano mutation). Haematologica 2012;97(1):82-8.
. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. Haematologica 2011;96(3):417-23.
. Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. Haematologica 2014;99(8):1387-94.
.