Sfoglia per Autore
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
Fragile X syndrome : A review of clinical and molecular diagnoses
2017 C. Ciaccio, L. Fontana, D. Milani, S. Tabano, M. Miozzo, S. Esposito
Mitochondrial DNA content and methylation in fetal cord blood of pregnancies with placental insufficiency
2017 C. Novielli, C. Mandò, S. Tabano, G.M. Anelli, L. Fontana, P. Antonazzo, M. Miozzo, I. Cetin
Mass spectrometry-based assay for the molecular diagnosis of glioma : Concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status
2017 C. Pesenti, L. Paganini, L. Fontana, E. Veniani, R. Letterio, S. Ferrero, S. Bosari, M. Maura, G. Marfia, C. Manuela, R. Silipigni, G. Silvana, S. Tabano, M. Miozzo
Sequence variants identification at the KCNQ1OT1: TSS differentially Methylated region in isolated omphalocele cases
2017 B. Maria Francesca, M. Calvello, L. Paganini, L. Pezzani, M. Baccarin, L. Fontana, S.M. Sirchia, G. Silvana, L. Canazza, L. Ernesto, L.L. Colombo, L. Faustina, F. Mosca, S.M. Tabano, M.R. Miozzo
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15.5 related imprinting disorders
2018 L. Fontana, M. Bedeschi, S. Maitz, A. Cereda, C. Faré, S. Motta, A. Seresini, P. D'Ursi, A. Orro, V. Pecile, M. Calvello, A. Selicorni, F. Lalatta, D. Milani, S. Sirchia, M. Miozzo, S. Tabano
Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry
2018 E. Bonaparte, C. Pesenti, L. Fontana, R. Falcone, L. Paganini, A. Marzorati, M. Nosotti, P. Mendogni, C. Bareggi, S.M. Sirchia, S.M. Tabano, S. Bosari, M.R. Miozzo
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome
2018 L. Paganini, C. Pesenti, D. Milani, L. Fontana, S. Motta, S.M. Sirchia, G. Scuvera, P. Marchisio, S. Esposito, C.M. Cinnante, S.M. Tabano, M.R. Miozzo
MassARRAY-based simultaneous detection of hotspot somatic mutations and recurrent fusion genes in papillary thyroid carcinoma : the PTC-MA assay
2018 C. Pesenti, M. Muzza, C. Colombo, M.C. Proverbio, C. Faré, S. Ferrero, M. Miozzo, L. Fugazzola, S. Tabano
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy
2018 G. Monzio Compagnoni, G. Kleiner, M. Samarani, M. Aureli, G. Faustini, A. Bellucci, D. Ronchi, A. Bordoni, M. Garbellini, S. Salani, F. Fortunato, E. Frattini, E. Abati, C. Bergamini, R. Fato, S. Tabano, M. Miozzo, G. Serratto, M. Passafaro, M. Deleidi, R. Silipigni, M. Nizzardo, N. Bresolin, G. Comi, S. Corti, C. Quinzii, A. Di Fonzo
A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins
2018 L. Paganini, L.A. Hadi, M. Chetta, D. Rovina, L. Fontana, P. Colapietro, E. Bonaparte, L. Pezzani, P. Marchisio, S.M. Tabano, J. Costanza, S.M. Sirchia, L. Riboni, D. Milani, M. Miozzo
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E)
2019 A. Catania, L. Peverelli, S. Tabano, D. Ghezzi, C. Lamperti
A miRNome analysis of drug-free manic psychotic bipolar patients versus healthy controls
2019 S. Tabano, A. Caldiroli, A. Terrasi, P. Colapietro, S. Grassi, G.S. Carnevali, L. Fontana, M. Serati, V. Vaira, A.C. Altamura, M. Miozzo, M. Buoli
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
Impact of Mutation Density and Heterogeneity on Papillary Thyroid Cancer Clinical Features and Remission Probability
2019 C. Colombo, M. Muzza, M.C. Proverbio, D. Tosi, D. Soranna, C. Pesenti, S. Rossi, V. Cirello, S. De Leo, N. Fusco, M. Miozzo, G. Bulfamante, L. Vicentini, S. Ferrero, A. Zambon, S. Tabano, L. Fugazzola
The Genetic Landscape of Human Glioblastoma and Matched Primary Cancer Stem Cells Reveals Intratumour Similarity and Intertumour Heterogeneity
2019 C. Pesenti, S. Navone, L. Guarnaccia, A. Terrasi, J. Costanza, R. Silipigni, S. Guarneri, N. Fusco, L. Fontana, M. Locatelli, P. Rampini, R. Campanella, S. Tabano, M. Miozzo, G. Marfia
Studio della nutrizione in gravidanza nell'ambito del progetto "HUMAN-BB": impatto dell'alimentazione sulla salute mterno/neonatale in un campione di 800 gravide fisiologiche
2020 M. Camanni, P.A. Mauri, S. Tabano
DNA methylation in the diagnosis of monogenic diseases
2020 F. Cerrato, A. Sparago, F. Ariani, F. Brugnoletti, L. Calzari, F. Coppede, A. De Luca, C. Gervasini, E. Giardina, F. Gurrieri, C.L. Nigro, G. Merla, M. Miozzo, S. Russo, E. Sangiorgi, S.M. Sirchia, G.M. Squeo, S. Tabano, E. Tabolacci, I. Torrente, M. Genuardi, G. Neri, A. Riccio
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
Profound alterations of the chromatin architecture at chromosome 11p15.5 in cells from Beckwith-Wiedemann and Silver-Russell syndromes patients
2020 D. Rovina, M. La Vecchia, A. Cortesi, L. Fontana, M. Pesant, S. Maitz, S. Tabano, B. Bodega, M. Miozzo, S.M. Sirchia
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