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DE ROCCO, DANIELA

DE ROCCO, DANIELA  

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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. 1-gen-2010 DE ROCCO, DANIELABIANCO, ANNA MONICA ROSARIASAVOIA, ANNA +
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 1-gen-2018 DE ROCCO, DANIELAGIANGREGORIO, TANIASAVOIA, ANNA +
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin. 1-gen-2009 SAVOIA, ANNADE ROCCO, DANIELA +
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia 1-gen-2014 SAVOIA, ANNABOTTEGA, ROBERTADE ROCCO, DANIELAFALESCHINI, MICHELA +
ANKRD26-related thrombocytopenia and myeloid malignancies 1-gen-2013 GNAN, CHIARADE ROCCO, DANIELASAVOIA, ANNA +
Apparent genotype–phenotype mismatch in a patient with MYH9-related disease: When the exception proves the rule 1-gen-2013 DE ROCCO, DANIELASAVOIA, ANNA +
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 1-gen-2011 SAVOIA, ANNADE ROCCO, DANIELADI STAZIO, MARIATERESABOTTEGA, ROBERTA +
Clinical and Laboratory Features of of 103 Patients From 42 Italian Families with Inherited Thrimbocytopenia Derived from the Monoallelic Ala156Val Mutation of GPIb Alpha (Bolzano Mutation) 1-gen-2011 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Clinical and laboratory features of 103 patients from 42 Italian families with inherited thrombocytopenia derived from the monoallelic Ala156Val mutation of GPIb{alpha} (Bolzano mutation). 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia 1-gen-2016 DE ROCCO, DANIELAGNAN, CHIARAFALESCHINI, MICHELASAVOIA, ANNA +
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency 1-gen-2013 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
FANCA nel mitocondrio: qualche ruolo diretto? 1-gen-2015 BOTTEGA, ROBERTADE ROCCO, DANIELABORTUL, RobertaFALESCHINI, MICHELANICCHIA, ELENAZWEYER, MARINASAVOIA, ANNA +
Fanconi anemia patients are more susceptible to infection with tumor virus SV40. 1-gen-2013 COMAR, ManolaDE ROCCO, DANIELABOTTEGA, ROBERTASAVOIA, ANNA +
Fanconi anemia patients are more susceptible to SV40 infection 1-gen-2013 COMAR, ManolaSAVOIA, ANNADE ROCCO, DANIELABOTTEGA, ROBERTA +
Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia 1-gen-2015 SAVOIA, ANNAGNAN, CHIARADE ROCCO, DANIELA +
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder 1-gen-2010 SAVOIA, ANNADE ROCCO, DANIELA +
Hypomorphic FANCA mutations correlate with mild mitochondrial and clinical phenotype in Fanconi anemia 1-gen-2018 Bottega, RobertaNicchia, ElenaDe Rocco, DanielaFaleschini, MichelaSavoia, Anna +
Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technology 1-gen-2015 NICCHIA, ELENAGRECO, CHIARADE ROCCO, DANIELAPECILE, VANNAPALLAVICINI, AlbertoTORELLI, LUCIOSAVOIA, ANNA +
Identification of the first duplication in MYH9-related disease: A hot spot for hot unequal crossing-over within exon 24 of the MYH9 gene 1-gen-2009 DE ROCCO, DANIELASAVOIA, ANNA +