Search Results - "Guazzo, Raffaella"
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Centriolar defects, centrin 1 alterations, and FISH studies in human spermatozoa of a male partner of a couple that produces aneuploid embryos in natural and artificial fertilization
Published in Journal of assisted reproduction and genetics (01-05-2021)“…Purpose To study the potential paternal contribution to aneuploidies in the man of a couple who obtained trisomic embryos with natural and assisted…”
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Primary cilium alterations and expression changes of Patched1 proteins in niemann‐pick type C disease
Published in Journal of cellular physiology (01-01-2018)“…Niemann‐Pick type C disease (NPC) is a disorder characterized by abnormal intracellular accumulation of unesterified cholesterol and glycolipids. Two distinct…”
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Case report: The CCDC103 variant causes ultrastructural sperm axonemal defects and total sperm immotility in a professional athlete without primary ciliary diskinesia
Published in Frontiers in genetics (26-01-2023)“…Primary ciliary dyskinesia (PCD) is an inherited autosomal-recessive disorder characterized by abnormal ciliary motion, due to a defect in ciliary structure…”
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MYC protein expression scoring and its impact on the prognosis of aggressive B-cell lymphoma patients
Published in Haematologica (Roma) (01-01-2019)Get full text
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A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report
Published in BMC medical genetics (10-11-2020)“…Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic…”
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Molecular switch from MYC to MYCN expression in MYC protein negative Burkitt lymphoma cases
Published in Blood cancer journal (New York) (20-11-2019)“…MYC is the most altered oncogene in human cancer, and belongs to a large family of genes, including MYCN and MYCL . Recently, while assessing the degree of…”
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PRMT5 silencing selectively affects MTAP‐deleted mesothelioma: In vitro evidence of a novel promising approach
Published in Journal of cellular and molecular medicine (01-05-2020)“…Malignant mesothelioma (MM) is an aggressive asbestos‐related cancer of the serous membranes. Despite intensive treatment regimens, MM is still a fatal…”
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Line field confocal optical coherence tomography: An adjunctive tool in the diagnosis of autoimmune bullous diseases
Published in Journal of biophotonics (01-05-2021)“…Autoimmune bullous diseases (AIBDs) still represent a considerable a source of morbidity and mortality: early identification of a specific AIBD is often…”
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Burkitt lymphoma with a granulomatous reaction: an M1/Th1‐polarised microenvironment is associated with controlled growth and spontaneous regression
Published in Histopathology (01-01-2022)“…Aims Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that, in some instances, may show a granulomatous reaction associated with a favourable prognosis…”
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A Multidisciplinary Approach to Improve the Management of Immune-Checkpoint Inhibitor-Related Pneumonitis
Published in OncoTargets and therapy (31-08-2024)“…Treatment with immune-checkpoint inhibitors (ICIs) can be associated with a wide spectrum of immune-related adverse events (irAEs). Among irAEs,…”
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The induction of Maspin expression by a glucosamine-derivative has an antiproliferative activity in prostate cancer cell lines
Published in Chemico-biological interactions (25-02-2019)“…Mammary serine protease inhibitor or Maspin has been characterized as a class II tumor suppressor gene in several cancer types, among them prostate cancer…”
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Analysis of Primary Cilium Expression and Hedgehog Pathway Activation in Mesothelioma Throws Back Its Complex Biology
Published in Cancers (25-10-2022)“…The primary cilium (PC) is a sensory organelle present on the cell surface, modulating the activity of many pathways. Dysfunctions in the PC lead to different…”
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An adrenal cortical adenoma with neuroendocrine-type granules mimicking pheochromocytoma
Published in Ultrastructural pathology (04-05-2023)“…Clinical and biochemical presentation of adrenal tumors may rarely conflict with their histologic features. In the present report, we describe a rare case of…”
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Tumor microenvironment of Burkitt lymphoma: different immune signatures with different clinical behavior
Published in Blood advances (27-08-2024)“…•BL with granulomatous reaction was characterized by an M1 signature and INFG in CD8+ cells, whereas BL with starry sky showed M2 genes.•Tumor-associated…”
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An adrenal cortical adenoma with neuroendocrine-type granules mimicking pheochromocytoma
Published in Ultrastructural Pathology (04-05-2023)“…Clinical and biochemical presentation of adrenal tumors may rarely conflict with their histologic features. In the present report, we describe a rare case of…”
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