Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome L Fontana, B Gentilin, L Fedele, C Gervasini, M Miozzo Clinical genetics 91 (2), 233-246, 2017 | 154 | 2017 |
Fragile X syndrome: a review of clinical and molecular diagnoses C Ciaccio, L Fontana, D Milani, S Tabano, M Miozzo, S Esposito Italian journal of pediatrics 43, 1-12, 2017 | 144 | 2017 |
Mitochondrial DNA content and methylation in fetal cord blood of pregnancies with placental insufficiency C Novielli, C Mandň, S Tabano, GM Anelli, L Fontana, P Antonazzo, ... Placenta 55, 63-70, 2017 | 61 | 2017 |
Decreased serum level of sphingosine‐1‐phosphate: a novel predictor of clinical severity in COVID‐19 G Marfia, S Navone, L Guarnaccia, R Campanella, M Mondoni, ... EMBO molecular medicine 13 (1), e13424, 2021 | 56 | 2021 |
Angiogenesis in human brain tumors: Screening of drug response through a patient-specific cell platform for personalized therapy L Guarnaccia, SE Navone, E Trombetta, C Cordiglieri, A Cherubini, ... Scientific reports 8 (1), 1-13, 2018 | 37 | 2018 |
Microtubule-associated protein/microtubule affinity-regulating kinase 4 (MARK4) plays a role in cell cycle progression and cytoskeletal dynamics D Rovina, L Fontana, L Monti, C Novielli, N Panini, SM Sirchia, E Erba, ... European journal of cell biology 93 (8-9), 355-365, 2014 | 37 | 2014 |
The genetic landscape of human glioblastoma and matched primary cancer stem cells reveals intratumour similarity and intertumour heterogeneity C Pesenti, SE Navone, L Guarnaccia, A Terrasi, J Costanza, R Silipigni, ... Stem Cells International 2019, 2019 | 34 | 2019 |
Beckwith–Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi L Paganini, N Carlessi, L Fontana, R Silipigni, S Motta, S Fiori, S Guerneri, ... Epigenetics 10 (7), 643-649, 2015 | 28 | 2015 |
Rothmund-Thomson syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome EA Colombo, A Locatelli, L Cubells Sánchez, S Romeo, NH Elcioglu, ... International Journal of Molecular Sciences 19 (4), 1103, 2018 | 27 | 2018 |
Molecular insights into the classification of luminal breast cancers: The genomic heterogeneity of progesterone-negative tumors G Lopez, J Costanza, M Colleoni, L Fontana, S Ferrero, M Miozzo, ... International Journal of Molecular Sciences 20 (3), 510, 2019 | 26 | 2019 |
Characterization of multi-locus imprinting disturbances and underlying genetic defects in patients with chromosome 11p15. 5 related imprinting disorders L Fontana, MF Bedeschi, S Maitz, A Cereda, C Faré, S Motta, A Seresini, ... Epigenetics 13 (9), 897-909, 2018 | 26 | 2018 |
Novel physiological RECQL4 alternative transcript disclosed by molecular characterisation of Rothmund–Thomson Syndrome sibs with mild phenotype EA Colombo, L Fontana, G Roversi, G Negri, D Castiglia, M Paradisi, ... European Journal of Human Genetics 22 (11), 1298-1304, 2014 | 21 | 2014 |
Mass spectrometry-based assay for the molecular diagnosis of glioma: concomitant detection of chromosome 1p/19q codeletion, and IDH1, IDH2, and TERT mutation status C Pesenti, L Paganini, L Fontana, E Veniani, L Runza, S Ferrero, S Bosari, ... Oncotarget 8 (34), 57134, 2017 | 20 | 2017 |
Differential signature of the centrosomal MARK4 isoforms in glioma I Magnani, C Novielli, L Fontana, S Tabano, D Rovina, RF Moroni, ... Analytical Cellular Pathology 34 (6), 319-338, 2011 | 20 | 2011 |
Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry E Bonaparte, C Pesenti, L Fontana, R Falcone, L Paganini, A Marzorati, ... Diagnostic Pathology 13 (1), 1-9, 2018 | 18 | 2018 |
Familial gastrointestinal stromal tumors, lentigines, and café‐au‐lait macules associated with germline c‐kit mutation treated with imatinib D Gupta, L Chandrashekar, L Larizza, EA Colombo, L Fontana, ... International Journal of Dermatology 56 (2), 195-201, 2017 | 18 | 2017 |
MGMT-Methylated Alleles Are Distributed Heterogeneously Within Glioma Samples Irrespective of IDH Status and Chromosome 10q Deletion L Fontana, S Tabano, E Bonaparte, G Marfia, C Pesenti, R Falcone, ... J Neuropathol Exp Neurol 75 (8), 791-800, 2016 | 18 | 2016 |
Constitutive BRCA1 Promoter Hypermethylation Can Be a Predisposing Event in Isolated Early-Onset Breast Cancer J Azzollini, C Pesenti, S Pizzamiglio, L Fontana, C Guarino, B Peissel, ... Cancers 11 (1), 58, 2019 | 17 | 2019 |
Analysis of BRCA1 and RAD51C Promoter Methylation in Italian Families at High-Risk of Breast and Ovarian Cancer S Tabano, J Azzollini, C Pesenti, S Lovati, J Costanza, L Fontana, ... Cancers 12 (4), 910, 2020 | 15 | 2020 |
A HS6ST2 gene variant associated with X‐linked intellectual disability and severe myopia in two male twins L Paganini, LA Hadi, M Chetta, D Rovina, L Fontana, P Colapietro, ... Clinical genetics 95 (3), 368-374, 2019 | 15 | 2019 |