CATALOGO DEI PRODOTTI DELLA RICERCA

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Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with LOH at 16q24.3 1-gen-1999 Savino, M; D'Apolito, M; Centra, M; VAN BEERENDONK, Hm; CLETON-JANSEN, A-M; Whitmore, Sa; Crawford, J; Callen, Df; Zelante, L; Savoia, A.
(TA)(8) allele in the UGT1A1 gene promoter of a Caucasian with Gilbert's syndrome 1-gen-1999 Iolascon, A; Faienza, Mf; Centra, M; Storelli, S; Zelante, L; Savoia, A
Confirmation of Kapur-Toriello syndrome in an Italian patient 1-gen-1999 Zelante, L; Candela, Ma; Savoia, A.; Gasparini, P
Hereditary thrombocytopenia due to reduced platelet production: report of two families and mutational screening of thrombopoietin receptor gene 1-gen-2000 Tonelli, R; Strippoli, P; Grossi, A; Savoia, A.; Iolascon, A; Morrica, M; Trazzi, S; Savino, M; Servedio, V; Morfini, M; Zelante, L; Borgna, C; Rosito, P; Pession, A; Paolucci, G; Bagnara, Gp
The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1 1-gen-2000 Martignetti, Ja; Heath, Ke; Harris, J; Bizzaro, N; Savoia, Anna; Balduini, Cl; Desnick, Rj
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes 1-gen-2000 Seri, THE MAY HEGGLIN FECHTNER SYNDROME C. O. N. S. O. R. T. I. U. M. GROUP I.; Group, Ii; Savino, M; DEL VECCHIO, M; Dapolito, M; Iolascon, A; Zelante, L; Savoia, Anna; GROUP III, Balduini; GROUP IV, Heath
Association of complementation group and mutation type with clinical outcome in Fanconi anemia. European Fanconi Anemia Research Group 1-gen-2000 Faivre, L; Guardiola, P; Lewis, C; Dokal, I; Ebell, W; Zatterale, A; Altay, C; Poole, Je; Stones, D; Kwee, Ml; VAN WEEL-SIPMAN, M; Havenga, C; Morgan, Nv; DE WINTER, J; Digweed, M; Savoia, A.; Pronk, Jc; DE RAVEL, T; Jansen, S; Joenje, H; Gluckman, E; Mathew, Cg.
A new case of acromegaloid facial appearance (AFA) syndrome with an expanded phenotype 1-gen-2000 Zelante, L; Gasparini, P; Savoia, A.; Lomuto, M; Pellicano, R
Molecular and functional analyses of the human and the murine genes coding for AFG3L1p, a metalloprotease homologous to the human spastic paraplegia protein 1-gen-2001 Kremmiodiotis, G; Gardner, Ae; Settasatian, C; Savoia, A.; Sutherland, Gr; Callen, Df
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome 1-gen-2001 Savoia, Anna; Balduini, C; Savino, M; Noris, N; DEL VECCHIO, M; Perotta, S; Belletti, S; Poggi, V; Iolascon, A.
Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders 1-gen-2002 Pecci, A; Noris, P; Invernizzi, R; Savoia, A.; Seri, M; Ghiggeri, Gm; Sartore, S; Gangarossa, S; Bizzaro, N; Balduini, Cl
Cloning of the murine nonmuscle heavy chain myosin IIA gene, ortholog of human MYH9 responsible for May-Hegglin, Sebastian, Fechtner, and Epstein syndromes 1-gen-2002 D'Apolito, M; Guarnieri, V; Boncristiano, M; Zelante, L; Savoia, A.
Combined 17a-hydroxylase/17-20-lyase deficiency caused by Phe93Cys mutation in the CYP17 gene 1-gen-2002 DI CERBO, A; BIASON-LAUBER, A; Savino, M; Piemontese, Mr; DI GIORGIO, A; Perona, M; Savoia, A.
Anemia di Fanconi: recenti progressi nella caratterizazione dei meccanismi patogenetici 1-gen-2002 Savoia, A.
The Epstein syndrome: a further renal disorder due to mutations in the nonmuscle myosin heavy chain 9 gene 1-gen-2002 Seri, M; Savino, M; Bordo, D; Cusano, R; Meloni, I; Malatesta, P; Capria, M; Pasi, A; Koivisto, Pa; Bolognesi, M; Ghiggeri, Gm; Balduini, Cl; Zelante, L; Ravazzolo, R; Renieri, A; Savoia, A.
Inherited thrombocytopenia: from gene to therapy 1-gen-2002 Balduini, Cl; Iolascon, A; Savoia, A.
Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome 1-gen-2002 Dipumpo, M; Noris, P; Pecci, A; Savoia, A.; Seri, M; Ceresa, If; Balduini, Cl
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness 1-gen-2003 Seri, M; Pecci, A; DI BARI, F; Cusano, M; Savino, M; Panza, E; Nigro, A; Noris, P; Gangarossa, S; Rocca, B; Gresele, P; Bizzarro, N; Malatesta, P; Koivisto, Pa; Longo, I; Musso, R; Pecoraro, C; Iolascon, A; Magrini, U; Soriano, Jr; Renieri, A; Ghiggeri, Gm; Ravazzolo, R; Balduini, Cl; Savoia, A.
Spectrum of FANCA mutations in Italian Fanconi anemia patients: identification of six novel alleles and phenotypic characterization of S858R variant 1-gen-2003 Savino, M; Borriello, A; Dapolito, M; Criscuolo, M; DEL VECCHIO, M; Bianco, Am; DI PERNA, M; Calzone, R; Nobili, B; Zatterale, A; Zelante, L; Joenje, H; DELLA RAGIONE, F; Savoia, A.
Genetics, clinical and pathological features of glomerulonephrites associated with mutations of non-muscle myosin IIA (Fechtner syndrome) 1-gen-2003 Ghiggeri, Gm; Caridi, G; Magrini, M; Sessa, A; Savoia, A.; Seri, M; Pecci, A; Romagnoli, R; Gangarossa, S; Noris, P; Sartore, S; Necchi, V; Ravazzolo, R; Balduini, Cl
Mostrati risultati da 41 a 60 di 167
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