Search Results - "STEFANIA, Zovato"

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    Structural and microvascular changes of the peripapillary retinal nerve fiber layer in Von Hippel–Lindau disease: an OCT and OCT angiography study by Pilotto, Elisabetta, Nacci, Elisabetta Beatrice, De Mojà, Gilda, Ferrara, Alfonso Massimiliano, Parrozzani, Raffaele, Londei, Davide, Zovato, Stefania, Midena, Edoardo

    Published in Scientific reports (08-01-2021)
    “…Von Hippel–Lindau (VHL) disease is an autosomal dominant genetic disease caused by VHL gene mutation. Retinal hemangioblastomas (RH) are vascularized tumors…”
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    Journal Article
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    Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease by Pilotto, Elisabetta, Torresin, Tommaso, Bacelle, Maria Laura, De Mojà, Gilda, Ferrara, Alfonso Massimiliano, Zovato, Stefania, Midena, Giulia, Midena, Edoardo

    Published in PloS one (12-08-2022)
    “…Purpose von Hippel-Lindau (VHL) disease is caused by a mutation of the VHL gene and characterized by the development of retinal hemangioblastomas (RH). Current…”
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    Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations by Iacobone, Maurizio, Camozzi, Valentina, Mian, Caterina, Pennelli, Gianmaria, Pagetta, Costantino, Casal Ide, Eric, Masi, Giulia, Zovato, Stefania, Torresan, Francesca

    Published in World journal of surgery (01-02-2020)
    “…Background Hyperparathyroidism-jaw tumor syndrome (HPT-JT) is a rare disease caused by CDC73 germline mutations, with familial primary hyperparathyroidism…”
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    A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient by Bandini, Erika, Zampiga, Valentina, Cangini, Ilaria, Ravegnani, Mila, Arcangeli, Valentina, Rossi, Tania, Mammi, Isabella, Schiavi, Francesca, Zovato, Stefania, Falcini, Fabio, Calistri, Daniele, Danesi, Rita

    “…Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related…”
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    Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease by Scafa, Raffaele, Merico, Maurizio, Ferrara, Alfonso Massimiliano, Watutantrige Fernando, Sara, Srsen, Pava, Schiavi, Francesca, Zovato, Stefania, Ferlin, Alberto

    Published in Frontiers in oncology (2023)
    “…We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral…”
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    Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers by Stjepanovic, Neda, Lubinski, Jan, Moller, Pal, Randall Armel, Susan, Foulkes, William D., Tung, Nadine, Neuhausen, Susan L., Kotsopoulos, Joanne, Sun, Ping, Sun, Sophie, Eisen, Andrea, Narod, Steven A.

    Published in Breast cancer research and treatment (01-06-2021)
    “…Purpose It is not known whether the risk of breast cancer among BRCA1 and BRCA2 mutation carriers after age 60 is high enough to justify intensive screening or…”
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    The role of procalcitonin in the follow-up of medullary thyroid cancer by Censi, Simona, Manso, Jacopo, Benvenuti, Teresa, Piva, Ilaria, Iacobone, Maurizio, Mondin, Alberto, Torresan, Francesca, Basso, Daniela, Crivellari, Gino, Zovato, Stefania, Mian, Caterina

    Published in European thyroid journal (01-02-2023)
    “…Objective Calcitonin (Ct) represents the most important biochemical marker of medullary thyroid cancer (MTC), but has certain limits. We analyzed the…”
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    Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma by Vianello, Federica, Zovato, Stefania, Nacamulli, Davide, Mian, Caterina, Iacobone, Maurizio, Censi, Simona, Watutantrige-Fernando, Sara, Galuppini, Francesca, Pennelli, Gianmaria, Bertazza, Loris, Barollo, Susi, Cavedon, Elisabetta, Benna, Clara

    Published in International Journal of Endocrinology (01-01-2017)
    “…Little is known about the function of microRNA-224 (miR-224) in medullary thyroid cancer (MTC). This study investigated the role of miR-224 expression in MTC…”
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    Coexistence of VHL Disease and CPT2 Deficiency: A Case Report by Ferrara, Alfonso Massimiliano, Sciacco, Monica, Zovato, Stefania, Rizzati, Silvia, Colombo, Irene, Boaretto, Francesca, Moggio, Maurizio, Opocher, Giuseppe

    Published in Cancer research and treatment (01-10-2016)
    “…von Hippel-Lindau (VHL) disease is an inherited syndrome manifesting with benign and malignant tumors. Deficiency of carnitine palmitoyltransferase type II…”
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    A Phase I Study of Cisplatin, Temozolomide and Thalidomide in Patients with Malignant Brain Tumors by ZUSTOVICH, Fable, CARTEI, Giuseppe, CERAVOLO, Renato, ZOVATO, Stefania, PUPPA, Alessandro Della, PASTORELLI, Davide, MATTIAZZI, Martina, BERTORELLE, Roberta, GARDIMAN, Marina Paola

    Published in Anticancer research (01-03-2007)
    “…Background: There is pre-clinical evidence of synergism between cisplatin (P) and temozolomide (T) due to higher inhibition by T of O 6…”
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    Long-Term Outcomes after Surgery for Pheochromocytoma and Sympathetic Paraganglioma by Torresan, Francesca, Beber, Arianna, Schiavone, Donatella, Zovato, Stefania, Galuppini, Francesca, Crimì, Filippo, Ceccato, Filippo, Iacobone, Maurizio

    Published in Cancers (24-05-2023)
    “…The prognosis of pheochromocytoma and sympathetic paraganglioma (PHEO/sPGL) is difficult to predict at the time of diagnosis and long-term follow-up data are…”
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    The GIP/GIPR axis in medullary thyroid cancer: clinical and molecular findings by Regazzo, Daniela, Bertazza, Loris, Galletta, Eva, Barollo, Susi, Mondin, Alberto, Zovato, Stefania, Iacobone, Maurizio, Zilio, Eleonora, Scaroni, Carla, Radu, Claudia Maria, di Benedetto, Giulietta, Mian, Caterina, Lefkimmiatis, Konstantinos, Occhi, Gianluca

    Published in Endocrine-related cancer (01-05-2022)
    “…The improper expression of glucose-dependent insulinotropic polypeptide receptor (GIPR) and the GIP/GIPR axis activation has been increasingly recognized in…”
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    Von Hippel-Lindau disease: an evaluation of natural history and functional disability by Feletti, Alberto, Anglani, Mariagiulia, Scarpa, Bruno, Schiavi, Francesca, Boaretto, Francesca, Zovato, Stefania, Taschin, Elisa, Gardi, Mario, Zanoletti, Elisabetta, Piermarocchi, Stefano, Murgia, Alessandra, Pavesi, Giacomo, Opocher, Giuseppe

    Published in Neuro-oncology (Charlottesville, Va.) (01-07-2016)
    “…Although many studies have been published about specific lesions characterizing von Hippel-Lindau(VHL) disease, none have dealt with the natural history of the…”
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    Journal Article