Sfoglia per Autore
Somatic mosaicism in Cornelia de Lange syndrome : a further contributor to the wide clinical expressivity?
2010 P. Castronovo, A. Delahaye Duriez, C. Gervasini, J. Azzollini, F. Minier, S. Russo, M. Masciadri, A. Selicorni, A. Verloes, L. Larizza
Intragenic and large NIPBL rearrangements revealed by MLPA in Cornelia de Lange patients
2012 S. Russo, M. Masciadri, C. Gervasini, J. Azzollini, A. Cereda, G. Zampino, O. Haas, G. Scarano, M. Di Rocco, P. Finelli, R. Tenconi, A. Selicorni, L. Larizza
Molecular characterization of a mosaic NIPBL deletion in a Cornelia de Lange patient with severe phenotype
2013 C. Gervasini, I. Parenti, C. Picinelli, J. Azzollini, M. Masciadri, A. Cereda, A. Selicorni, S. Russo, P. Finelli, L. Larizza
Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome
2013 C. Gervasini, C. Picinelli, J. Azzollini, D. Rusconi, M. Masciadri, A. Cereda, C. Marzocchi, G. Zampino, A. Selicorni, R. Tenconi, S. Russo, L. Larizza, P. Finelli
Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum
2013 C. Gervasini, S. Russo, A. Cereda, I. Parenti, M. Masciadri, J. Azzollini, D. Melis, T. Aravena, B. Doray, A. Ferrarini, L. Garavelli, A. Selicorni, L. Larizza
Overall and allele-specific expression of the SMC1A gene in female Cornelia de Lange syndrome patients and healthy controls
2014 I. Parenti, D. Rovina, M. Masciadri, A. Cereda, J. Azzollini, C. Picinelli, G. Limongelli, P. Finelli, A. Selicorni, S. Russo, C. Gervasini, L. Larizza
Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy
2014 J. Azzollini, D. Rovina, C. Gervasini, I. Parenti, A. Fratoni, M. Cubellis, A. Cerri, L. Pietrogrande, L. Larizza
Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype
2016 I. Parenti, C. Gervasini, J. Pozojevic, L. Graul Neumann, J. Azzollini, D. Braunholz, E. Watrin, K.S. Wendt, A. Cereda, D. Cittaro, G. Gillessen Kaesbach, D. Lazarevic, M. Mariani, S. Russo, R. Werner, P. Krawitz, L. Larizza, A. Selicorni, F.J. Kaiser
A targeted approach to genetic counseling in breast cancer patients: the experience of an Italian local project
2016 N. La Verde, F. Corsi, A. Moretti, B. Peissel, D. Dalu, S. Girelli, C. Fasola, A. Gambaro, G. Roversi, J. Azzollini, P. Radice, V. Pensotti, G. Farina, S. Manoukian
Revertant mosaicism for family mutations is not observed in BRCA1/2 phenocopies
2017 J. Azzollini, C. Pesenti, L. Ferrari, L. Fontana, M. Calvello, B. Peissel, G. Portera, S. Tabano, M.L. Carcangiu, P. Riva, M. Miozzo, S. Manoukian
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer
2019 J. Azzollini, C. Pesenti, S. Pizzamiglio, L. Fontana, C. Guarino, B. Peissel, M. Plebani, S. Tabano, S.M. Sirchia, P. Colapietro, R. Villa, B. Paolini, P. Verderio, M. Miozzo, S. Manoukian
Hereditary Breast Cancer: BRCA and Other Susceptibility Genes
2020 J.V. Azzollini, L. Fontana, S. Manoukian
Analysis of BRCA1 and RAD51C promoter methylation in italian families at high-risk of breast and ovarian cancer
2020 S. Tabano, J. Azzollini, C. Pesenti, S. Lovati, J. Costanza, L. Fontana, B. Peissel, M. Miozzo, S. Manoukian
Pre- and Post-Zygotic TP53 De Novo Mutations in SHH-Medulloblastoma
2020 J. Azzollini, E. Schiavello, F.R. Buttarelli, C.A. Clerici, L. Tizzoni, G.D. Vecchi, F. Capra, F. Pisati, V. Biassoni, L. Runza, G. Carrabba, F. Giangaspero, M. Massimino, V. Pensotti, S. Manoukian
Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model
2022 J. Azzollini, A. Vingiani, L. Agnelli, E. Tamborini, F. Perrone, E. Conca, I. Capone, A. Busico, B. Peissel, E. Rosina, M. Ducceschi, M. Mantiero, S. Lopez, F. Raspagliesi, M. Niger, M. Duca, S. Damian, C. Proto, F. de Braud, G. Pruneri, S. Manoukian
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile