ZUNTINI, ROBERTA
ZUNTINI, ROBERTA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024 Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A.; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
Characterization of BRCA Deficiency in Ovarian Cancer
2023 Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone, Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review
2021 Innella G.; Miccoli S.; Colussi D.; Pradella L.M.; Amato L.B.; Zuntini R.; Salfi N.C.M.; Collina G.; Ferrara F.; Ricciardiello L.; Turchetti D.
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next?
2021 Zuntini, Roberta; Bonora, Elena; Pradella, Laura Maria; Amato, Laura Benedetta; Vidone, Michele; De Fanti, Sara; Catucci, Irene; Cortesi, Laura; Medici, Veronica; Ferrari, Simona; Gasparre, Giuseppe; Peterlongo, Paolo; Sazzini, Marco; Turchetti, Daniela
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis
2021 Innella G.; Bonora E.; Neri I.; Virdi A.; Guglielmo A.; Pradella L.M.; Ceccarelli C.; Amato L.B.; Lanzoni A.; Miccoli S.; Gasparre G.; Zuntini R.; Turchetti D.
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS
2020 G Brandi, M Deserti, A Palloni, D Turchetti, R Zuntini, F Pedica, G Frega, S De Lorenzo, F Abbati, A Rizzo, M Di Marco, F Massari, S Tavolari
BRCA and High-Grade Serous Carcinoma: a Morphological, Immunohistochemical and Genetic Study.
2019 De Leo, G. Santandrea, R. Zuntini, G. Barbero, D. Turchetti, B. Corti, D. Rubino, G. Dondi, G. Borghese, A.N. Della Gatta, A.M. Perrone, P. De Iaco, C. Ceccarelli, D. Santini.
BRCA2 in Ovarian Development and Function
2019 Turchetti, Daniela; Zuntini, Roberta; Tricarico, Rossella; Bellacosa, Alfonso
Comparison of Pathological Scores for Predicting Metastasis in Pheochromocytoma and Paraganglioma: a Single-Center Experience.
2019 De Leo, F. Ambrosi, R. Zuntini, M. Grillini, G. Santandrea, C. Ricci, M. Nannini, S. Selva, G. Zavatta, G. Di Dalmazi, V. Vicennati, D. Santini, C. Ceccarelli.
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype
2019 Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Graziano C.
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help?
2018 Zuntini, Roberta; Ferrari, Simona; Bonora, Elena; Buscherini, Francesco; Bertonazzi, Benedetta; Grippa, Mina; Godino, Lea; Miccoli, Sara; Turchetti, Daniela*
Infectious meningitis/encephalitis: evaluation of a rapid and fully automated multiplex PCR in the microbiological diagnostic workup
2018 Piccirilli G, Chiereghin A, Gabrielli L, Giannella M, Squarzoni D, Turello G, Felici S, Vocale C, Zuntini R, Gibertoni D, Maraolo AE, Ambretti S, Lazzarotto T
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients
2018 Ciavarella, Michele; Miccoli, Sara; Prossomariti, Anna; Pippucci, Tommaso; Bonora, Elena; Buscherini, Francesco; Palombo, Flavia; Zuntini, Roberta; Balbi, Tiziana; Ceccarelli, Claudio; Bazzoli, Franco; Ricciardiello, Luigi; Turchetti, Daniela; Piazzi, Giulia
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy
2017 Grazia, Iannello; Claudio, Graziano; Giovanna, Cenacchi; Maria, Cordelli Duccio; Roberta, Zuntini; Valentina, Papa; Maria, Magistà Anna; Monica, Gagliardi; Radha, Procopio; Aldo, Quattrone; Grazia, Annesi
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype
2017 Zuntini, Roberta; Cortesi, Laura; Calistri, Daniele; Pippucci, Tommaso; Martelli, Pier Luigi; Casadio, Rita; Capizzi, Elisa; Santini, Donatella; Miccoli, Sara; Medici, Veronica; Danesi, Rita; Marchi, Isabella; Zampiga, Valentina; Fiorentino, Michelangelo; Ferrari, Simona; Turchetti, Daniela
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report.
2017 Ricci Costantino, Serra Margherita,Locatelli Francesca, Di laudo Marco, Zuntini Roberta, Santini Donatella, Taffurelli Mario, Turchetti Daniela
A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly
2016 Porcelli, Anna Maria; Calvaruso, Maria Antonietta; Iommarini, Luisa; Kurelac, Ivana; Zuntini, Roberta; Ferrari, Simona; Gasparre, Giuseppe
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
2016 Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Danieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona
Molecular detection and genetic characterization of circulating measles virus in northern Italy.
2016 Piccirilli, G; Chiereghin, A; Pascucci, Mg; Frasca, G; Zuntini, R; Ferrari, S; Gabrielli, L; Landini, Mp; Lazzarotto, T.
Adult B-Cell Precursor Acute Lymphoblastic Leukemia (BC-ALL) Negative For Recurrent Fusion Genes Are Characterized By a High Complex Genetic Heterogeneity Influencing Prognosis
2013 Iacobucci, Ilaria; Ferrari, Anna; Perricone, Margherita; Robustelli, Valentina; Papayannidis, Cristina; Zuntini, Roberta; Maria Chiara Abbenante, ; Venturi, Claudia; Baldazzi, Carmen; Ottaviani, Emanuela; Giannini, Barbara; Ghelli Luserna Di Rorà, Andrea; Lonetti, Annalisa; Vitale, Antonella; Elia, Loredana; Guadagnuolo, Viviana; Testoni, Nicoletta; Soverini, Simona; Paolini, Stefania; Parisi, Sarah; Sartor, Chiara; Cattina, Federica; Russo, Domenico; Foà, Robin; Chiaretti, Sabina; Kohlmann, Alexander; Martinelli, Giovanni
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
---|---|---|---|---|---|---|
Identification of the DNA methylation signature of Mowat-Wilson syndrome | Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, R...oberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A.; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia | 2024-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | Caraffi_2024.pdf; 41431_2024_1548_MOESM2_ESM.xlsx; 41431_2024_1548_MOESM1_ESM.pdf |
Characterization of BRCA Deficiency in Ovarian Cancer | Barbero, Giovanna; Zuntini, Roberta; Magini, Pamela; Desiderio, Laura; Bonaguro, Michela; Perrone..., Anna Myriam; Rubino, Daniela; Grippa, Mina; De Leo, Antonio; Ceccarelli, Claudio; Godino, Lea; Miccoli, Sara; Ferrari, Simona; Santini, Donatella; De Iaco, Pierandrea; Zamagni, Claudio; Innella, Giovanni; Turchetti, Daniela | 2023-01-01 | CANCERS | - | 1.01 Articolo in rivista | cancers-15-01530-v2.pdf; cancers-15-01530-s001 (1).zip |
Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review | Innella G.; Miccoli S.; Colussi D.; Pradella L.M.; Amato L.B.; Zuntini R.; Salfi N.C.M.; Collina ...G.; Ferrara F.; Ricciardiello L.; Turchetti D. | 2021-01-01 | PATHOLOGY RESEARCH AND PRACTICE | - | 1.01 Articolo in rivista | - |
Detecting Variants in the NBN Gene While Testing for Hereditary Breast Cancer: What to Do Next? | Zuntini, Roberta; Bonora, Elena; Pradella, Laura Maria; Amato, Laura Benedetta; Vidone, Michele; ...De Fanti, Sara; Catucci, Irene; Cortesi, Laura; Medici, Veronica; Ferrari, Simona; Gasparre, Giuseppe; Peterlongo, Paolo; Sazzini, Marco; Turchetti, Daniela | 2021-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | IJMS - RZ.pdf |
PTEN Hamartoma Tumor Syndrome: Skin Manifestations and Insights Into Their Molecular Pathogenesis | Innella G.; Bonora E.; Neri I.; Virdi A.; Guglielmo A.; Pradella L.M.; Ceccarelli C.; Amato L.B.;... Lanzoni A.; Miccoli S.; Gasparre G.; Zuntini R.; Turchetti D. | 2021-01-01 | FRONTIERS IN MEDICINE | - | 1.01 Articolo in rivista | fmed-08-688105.pdf; Table_1.docx |
INTRAHEPATIC CHOLANGIOCARCINOMA DEVELOPMENT IN A PATIENT WITH A NOVEL BAP1 GERMLINE MUTATION AND LOW EXPOSURE TO ASBESTOS | G Brandi, M Deserti, A Palloni, D Turchetti, R Zuntini, F Pedica, G Frega, S De Lorenzo, F Abbati..., A Rizzo, M Di Marco, F Massari, S Tavolari | 2020-01-01 | CANCER GENETICS | - | 1.01 Articolo in rivista | Articolo di marco 2020 Cancer Genetics.pdf; 1-s2.0-S2210776220302763-mmc1.docx |
BRCA and High-Grade Serous Carcinoma: a Morphological, Immunohistochemical and Genetic Study. | De Leo, G. Santandrea, R. Zuntini, G. Barbero, D. Turchetti, B. Corti, D. Rubino, G. Dondi, G. Bo...rghese, A.N. Della Gatta, A.M. Perrone, P. De Iaco, C. Ceccarelli, D. Santini. | 2019-01-01 | MODERN PATHOLOGY | - | 4.01 Contributo in Atti di convegno | - |
BRCA2 in Ovarian Development and Function | Turchetti, Daniela; Zuntini, Roberta; Tricarico, Rossella; Bellacosa, Alfonso | 2019-01-01 | NEW ENGLAND JOURNAL OF MEDICINE | - | 1.04 Replica / breve intervento (e simili) | - |
Comparison of Pathological Scores for Predicting Metastasis in Pheochromocytoma and Paraganglioma: a Single-Center Experience. | De Leo, F. Ambrosi, R. Zuntini, M. Grillini, G. Santandrea, C. Ricci, M. Nannini, S. Selva, G. Za...vatta, G. Di Dalmazi, V. Vicennati, D. Santini, C. Ceccarelli. | 2019-01-01 | MODERN PATHOLOGY | - | 4.01 Contributo in Atti di convegno | - |
HDAC8 Loss of Function and SHOX Haploinsufficiency: Two Independent Genetic Defects Responsible for a Complex Phenotype | Severi G.; Bonora E.; Perri A.; Scarano E.; Mazzanti L.; Isidori F.; Zuntini R.; Menabo S.; Grazi...ano C. | 2019-01-01 | CYTOGENETIC AND GENOME RESEARCH | - | 1.01 Articolo in rivista | - |
Dealing With BRCA1/2 unclassified variants in a cancer genetics clinic: Does cosegregation analysis help? | Zuntini, Roberta; Ferrari, Simona; Bonora, Elena; Buscherini, Francesco; Bertonazzi, Benedetta; G...rippa, Mina; Godino, Lea; Miccoli, Sara; Turchetti, Daniela* | 2018-01-01 | FRONTIERS IN GENETICS | - | 1.01 Articolo in rivista | fgene-09-00378.pdf |
Infectious meningitis/encephalitis: evaluation of a rapid and fully automated multiplex PCR in the microbiological diagnostic workup | Piccirilli G, Chiereghin A, Gabrielli L, Giannella M, Squarzoni D, Turello G, Felici S, Vocale C,... Zuntini R, Gibertoni D, Maraolo AE, Ambretti S, Lazzarotto T | 2018-01-01 | NEW MICROBIOLOGICA | - | 1.01 Articolo in rivista | - |
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients | Ciavarella, Michele; Miccoli, Sara; Prossomariti, Anna; Pippucci, Tommaso; Bonora, Elena; Buscher...ini, Francesco; Palombo, Flavia; Zuntini, Roberta; Balbi, Tiziana; Ceccarelli, Claudio; Bazzoli, Franco; Ricciardiello, Luigi; Turchetti, Daniela; Piazzi, Giulia | 2018-01-01 | EUROPEAN JOURNAL OF HUMAN GENETICS | - | 1.01 Articolo in rivista | s41431-017-0086-y.pdf |
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy | Grazia, Iannello; Claudio, Graziano; Giovanna, Cenacchi; Maria, Cordelli Duccio; Roberta, Zuntini...; Valentina, Papa; Maria, Magistà Anna; Monica, Gagliardi; Radha, Procopio; Aldo, Quattrone; Grazia, Annesi | 2017-01-01 | JOURNAL OF THE NEUROLOGICAL SCIENCES | - | 1.01 Articolo in rivista | - |
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype | Zuntini, Roberta; Cortesi, Laura; Calistri, Daniele; Pippucci, Tommaso; Martelli, Pier Luigi; Cas...adio, Rita; Capizzi, Elisa; Santini, Donatella; Miccoli, Sara; Medici, Veronica; Danesi, Rita; Marchi, Isabella; Zampiga, Valentina; Fiorentino, Michelangelo; Ferrari, Simona; Turchetti, Daniela | 2017-01-01 | ONCOTARGET | - | 1.01 Articolo in rivista | - |
Ductal invasive carcinoma arising within atypical microglandular adenosis in a patient with BRCA-1 mutation: A case report. | Ricci Costantino, Serra Margherita,Locatelli Francesca, Di laudo Marco, Zuntini Roberta, Santini ...Donatella, Taffurelli Mario, Turchetti Daniela | 2017-01-01 | HUMAN PATHOLOGY: CASE REPORTS. | - | 1.01 Articolo in rivista | - |
A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly | Porcelli, Anna Maria; Calvaruso, Maria Antonietta; Iommarini, Luisa; Kurelac, Ivana; Zuntini, Rob...erta; Ferrari, Simona; Gasparre, Giuseppe | 2016-01-01 | THE INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY | - | 1.01 Articolo in rivista | - |
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes | Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Da...nieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona | 2016-01-01 | JOURNAL OF IMMUNOLOGY RESEARCH | - | 1.01 Articolo in rivista | 8390356.pdf |
Molecular detection and genetic characterization of circulating measles virus in northern Italy. | Piccirilli, G; Chiereghin, A; Pascucci, Mg; Frasca, G; Zuntini, R; Ferrari, S; Gabrielli, L; Land...ini, Mp; Lazzarotto, T. | 2016-01-01 | JOURNAL OF CLINICAL VIROLOGY | - | 1.01 Articolo in rivista | - |
Adult B-Cell Precursor Acute Lymphoblastic Leukemia (BC-ALL) Negative For Recurrent Fusion Genes Are Characterized By a High Complex Genetic Heterogeneity Influencing Prognosis | Iacobucci, Ilaria; Ferrari, Anna; Perricone, Margherita; Robustelli, Valentina; Papayannidis, Cri...stina; Zuntini, Roberta; Maria Chiara Abbenante, ; Venturi, Claudia; Baldazzi, Carmen; Ottaviani, Emanuela; Giannini, Barbara; Ghelli Luserna Di Rorà, Andrea; Lonetti, Annalisa; Vitale, Antonella; Elia, Loredana; Guadagnuolo, Viviana; Testoni, Nicoletta; Soverini, Simona; Paolini, Stefania; Parisi, Sarah; Sartor, Chiara; Cattina, Federica; Russo, Domenico; Foà, Robin; Chiaretti, Sabina; Kohlmann, Alexander; Martinelli, Giovanni | 2013-01-01 | BLOOD | - | 4.02 Riassunto (Abstract) | - |