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
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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2
Hyper-reflective retinal foci as possible in vivo imaging biomarker of microglia activation in von Hippel-Lindau disease
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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3
Low dose TamOxifen and LifestylE changes for bReast cANcer prevention (TOLERANT study): Study protocol of a randomized phase II biomarker trial in women at increased risk for breast cancer
Published in PloS one (03-09-2024)“…Breast Cancer (BC) prevention strategies range from lifestyle changes such as increasing physical activity and reducing body weight to preventive drugs like…”
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4
Long-Term Outcomes of Parathyroidectomy in Hyperparathyroidism-Jaw Tumor Syndrome: Analysis of Five Families with CDC73 Mutations
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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5
A Novel FLCN Variant in a Suspected Birt-Hogg-Dubè Syndrome Patient
Published in International journal of molecular sciences (01-08-2023)“…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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6
Overexpression of miR-375 and L-type Amino Acid Transporter 1 in Pheochromocytoma and Their Molecular and Functional Implications
Published in International journal of molecular sciences (22-02-2022)“…Pheochromocytoma (Pheo) is a tumor derived from chromaffin cells. It can be studied using 18F-dihydroxyphenylalanine (DOPA)-positron emission tomography (PET)…”
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7
Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease
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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8
Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers
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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9
The role of procalcitonin in the follow-up of medullary thyroid cancer
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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10
Prognostic Impact of miR-224 and RAS Mutations in Medullary Thyroid Carcinoma
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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11
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report
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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12
Phase II study of neoadjuvant gemcitabine, pegylated liposomal doxorubicin, and docetaxel in locally advanced breast cancer
Published in Anticancer research (01-09-2010)“…This was a phase II study to assess the activity of a novel neoadjuvant regimen in locally-advanced breast cancer. Fifty patients with histological…”
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13
Bone metastases in soft tissue sarcoma: a survey of natural history, prognostic value and treatment options
Published in Clinical sarcoma research (17-04-2013)“…We surveyed the natural history of bone metastases in patients affected by soft tissue sarcoma (STS). This multicenter retrospective observational study…”
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A Phase I Study of Cisplatin, Temozolomide and Thalidomide in Patients with Malignant Brain Tumors
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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15
Efficacy of risk-reducing salpingo-oophorectomy in BRCA1–2 variants and clinical outcomes of follow-up in patients with isolated serous tubal intraepithelial carcinoma (STIC)
Published in Gynecologic oncology (01-11-2021)“…Serous tubal intraepithelial carcinoma (STIC) is currently considered the precursor lesion of pelvic high-grade serous carcinoma. The management of STIC…”
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von Hippel–Lindau disease integrated care pathway: Centralizing, expanding specialists' theatre, and measuring improvement
Published in Cancer (15-11-2022)Get full text
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17
Long-Term Outcomes after Surgery for Pheochromocytoma and Sympathetic Paraganglioma
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
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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19
Low dose TamOxifen and LifestylE changes for bReast cANcer prevention
Published in PloS one (03-09-2024)“…Background Breast Cancer (BC) prevention strategies range from lifestyle changes such as increasing physical activity and reducing body weight to preventive…”
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Journal Article -
20
Von Hippel-Lindau disease: an evaluation of natural history and functional disability
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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