Sfoglia per Autore

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Mostrati risultati da 1 a 20 di 46
Titolo Data di pubblicazione Autori File
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 +
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene. 1-gen-2009 DE ROCCO, DANIELAGIROTTO, GIORGIASAVOIA, 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 +
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA 1-gen-2009 SAVOIA, ANNADE ROCCO, DANIELA +
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 +
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype 1-gen-2010 DE ROCCO, DANIELAGIROTTO, GIORGIASAVOIA, ANNA +
MYH9-related disease - Report on 5 German families and description of a novel mutation. Ann Hematol 89:1057-1059, 2010 1-gen-2010 SAVOIA, ANNADE ROCCO, DANIELA +
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 +
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 1-gen-2011 SAVOIA, ANNADE ROCCO, DANIELADI STAZIO, MARIATERESABOTTEGA, ROBERTA +
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families 1-gen-2011 GNAN, CHIARADE ROCCO, DANIELASAVOIA, ANNA +
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 +
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 1-gen-2011 SAVOIA, ANNAGNAN, CHIARADE ROCCO, DANIELADI STAZIO, MARIATERESA +
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets 1-gen-2012 BOTTEGA, ROBERTADE ROCCO, DANIELASAVOIA, ANNA +
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country 1-gen-2012 DE ROCCO, DANIELAGNAN, CHIARASAVOIA, 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 +
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia 1-gen-2013 DE ROCCO, DANIELAFALESCHINI, MICHELABOTTEGA, ROBERTASAVOIA, ANNA +
Mutazioni di ACTN1 in pazienti italiani 1-gen-2013 BOTTEGA, ROBERTAFALESCHINI, MICHELADE ROCCO, DANIELASAVOIA, ANNA +
Inherited thrombocytopenia frequently diagnosed in Italy 1-gen-2013 DE ROCCO, DANIELANICCHIA, ELENASAVOIA, ANNA +
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia 1-gen-2013 GNAN, CHIARAARNOLDO, LAURADE ROCCO, DANIELACUSAN, MARTINASGARRA, RICCARDOFALESCHINI, MICHELAMANFIOLETTI, GUIDALBERTOSAVOIA, 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 +
Mostrati risultati da 1 a 20 di 46
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