Sfoglia per Autore
Absence of CYCS mutations in a large Italian cohort of patients with inherited thrombocytopenias of unknown origin.
2009-01-01 Savoia, Anna; Noris, P; Perrotta, S; Punzo, F; DE ROCCO, Daniela; Oostra, Ba; Balduini, Cl
MYH9 related disease: a novel missense Ala95Asp mutation of the MYH9 gene.
2009-01-01 DE ROCCO, Daniela; Heller, Pg; Girotto, Giorgia; Pastore, A; Glembotsky, Ac; Marta, Rf; Bozzi, V; Pecci, A; Molinas, Fc; Savoia, 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
2009-01-01 DE ROCCO, Daniela; PUJOL MOIX, N; Pecci, A; Faletra, F; Bozzi, V; Balduini, Cl; Savoia, Anna
Megakaryocyte and platelet abnormalities in a patient with a W33C mutation in the conserved SH3-like domain of myosin heavy chain IIA
2009-01-01 Kahr, Wh; Savoia, Anna; Pluthero, Fg; Li, L; Christensen, H; DE ROCCO, Daniela; Traivaree, C; Butchart, Se; Curtin, J; Stollar, Ej; Forman Kay, Jd; Blanchette, V. S.
MYH9 related disease: four novel mutations of the tail domain of myosin-9 correlating with a mild clinical phenotype
2010-01-01 Pecci, A; Panza, E; DE ROCCO, Daniela; PUJOL MOIX, N; Girotto, Giorgia; Podda, L; Paparo, C; Bozzi, V; Pastore, A; Balduini, Cl; Seri, M; Savoia, Anna
Heavy chain myosin 9-related disease (MYH9-RD): Neutrophilinclusions of myosin-9 as a pathognomonic sign of the disorder
2010-01-01 Savoia, Anna; DE ROCCO, Daniela; Panza, E; Bozzi, V; Scandellari, R; Loffredo, G; Mumford, A; Heller, Pg; Noris, P; DE GROOT, Mr; Giani, M; Freddi, P; Scognamiglio, F; Riondino, S; PUJOL MOIX, N; Fabris, F; Seri, M; Balduini, Cl; Pecci, A.
MYH9-related disease - Report on 5 German families and description of a novel mutation. Ann Hematol 89:1057-1059, 2010
2010-01-01 Savoia, Anna; Germeshausen, M.; DE ROCCO, Daniela; Henschel, B.; Kratz, C.; Kuhlen, M.; Rath, B.; Steuhl, K. P.; Wermes, C.; Ballmaier, M.
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.
2010-01-01 Vettore, S.; DE ROCCO, Daniela; Gerber, B.; Scandellari, R.; Bianco, ANNA MONICA ROSARIA; Balduini, C. L.; Pecci, A.; Fabris, F.; Savoia, Anna
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families
2011-01-01 Noris, P.; Perrotta, S.; Seri, M.; Pecci, A.; Gnan, Chiara; Loffredo, G.; Pujol Moix, N.; Zecca, M.; Scognamiglio, F.; DE ROCCO, Daniela; Punzo, F.; Melazzini, F.; Scianguetta, S.; Casale, M.; Marconi, C.; Pippucci, T.; Amendola, G.; Notarangelo, L. D.; Klersy, C.; Civaschi, E.; Balduini, C. L.; Savoia, Anna
Clinical and genetic aspects Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
2011-01-01 Savoia, Anna; Pastore, A.; DE ROCCO, Daniela; Civaschi, E.; DI STAZIO, Mariateresa; Bottega, Roberta; Melazzini, F.; Bozzi, V.; Pecci, A.; Magrin, S.; Balduini, C. L.; Noris, P.
Mutations in the 5′ UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2
2011-01-01 Pippucci, Tommaso; Savoia, Anna; Perrotta, Silverio; Pujol Moix, Núria; Noris, Patrizia; Castegnaro, Giovanni; Pecci, Alessandro; Gnan, Chiara; Punzo, Francesca; Marconi, Caterina; Gherardi, Samuele; Loffredo, Giuseppe; DE ROCCO, Daniela; Scianguetta, Saverio; Barozzi, Serena; Magini, Pamela; Bozzi, Valeria; Dezzani, Luca; DI STAZIO, Mariateresa; Ferraro, Marcella; Perini, Giovanni; Seri, Marco; Balduini, Carlo L.
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)
2011-01-01 C., Balduini; S., Perrotta; Bottega, Roberta; A., Pecci; F., Melazzini; E., Civaschi; S., Russo; S., Magrin; G., Loffredo; V., Di Salvo; G., Russo; M., Casale; DE ROCCO, Daniela; C., Grignani; M., Cattaneo; C., Baronci; A., Dragani; V., Albano; M., Jankovic; S., Scianguetta; Savoia, Anna; P., Noris
Gray Platelet Syndrome: association of NBEAL2 mutations with thrombocytopenia and absence of alpha-granules in platelets
2012-01-01 E., De Candia; Bottega, Roberta; A., Pecci; N., Pujol Moix; P., Heller; P., Noris; DE ROCCO, Daniela; Podda, G. M.; Balduini, C. L.; Savoia, Anna
International collaboration as a tool for diagnosis of patients with inherited thrombocytopenia in the setting of a developing country
2012-01-01 Glembotsky, A. C.; Marta, R. F.; Pecci, A.; DE ROCCO, Daniela; Gnan, Chiara; Espasandin, Y. R.; Goette, N. P.; Negro, F.; Noris, P.; Savoia, Anna; Balduini, C. L.; Molinas, F. C.; Heller, P. G.
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).
2012-01-01 Noris, P.; Perrotta, S.; Bottega, Roberta; Pecci, A.; Melazzini, F.; Civaschi, E.; Russo, S.; Magrin, S.; Loffredo, G.; Di Salvo, V.; Russo, G.; Casale, M.; DE ROCCO, Daniela; Grignani, C.; Cattaneo, M.; Baronci, C.; Dragani, A.; Albano, V.; Jankovic, M.; Scianguetta, S.; Savoia, Anna; Balduini, C. L.
Inherited thrombocytopenia frequently diagnosed in Italy
2013-01-01 DE ROCCO, Daniela; Nicchia, Elena; Pecci, A; Bottega, R; Noris, P; Bladuini, Cl; Savoia, Anna
Mutazioni di ACTN1 in pazienti italiani
2013-01-01 C., Marconi; Bottega, Roberta; T., Pipucci; F., Palombo; N., Bompiani; A., Pecci; P., Noris; Faleschini, Michela; DE ROCCO, Daniela; M., Seri; C. L., Balduini; Savoia, Anna
Molecular genetic testing of Fanconi anemia: experience of the Italian Research Group on Fanconi Anemia
2013-01-01 DE ROCCO, Daniela; Faleschini, Michela; Bottega, Roberta; E., Cappelli; J., Svahn; P., Farruggia; D., Longoni; V., Poggi; M., Pillon; C., Dufour; Savoia, Anna
Role of the mutations identified in the 5’UTR of ANKRD26 responsible for an inherited form of thrombocytopenia
2013-01-01 Gnan, Chiara; Arnoldo, Laura; DE ROCCO, Daniela; Cusan, Martina; Sgarra, Riccardo; Faleschini, Michela; Manfioletti, Guidalberto; Savoia, Anna
Correlation between platelet phenotype and NBEAL2 genotype in patients with congenital thrombocytopenia and α-granule deficiency
2013-01-01 Bottega, Roberta; Pecci, A.; De Candia, E.; Pujol Moix, N.; Heller, P. G.; Noris, P.; DE ROCCO, Daniela; Podda, G. M.; Glembotsky, A. C.; Cattaneo, M; Balduini, C. L.; Savoia, Anna
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