Search Results - "OPOCHER, G."

ARMC5 mutation analysis in patients with primary aldosteronism and bilateral adrenal lesions by Mulatero, P, Schiavi, F, Williams, T A, Monticone, S, Barbon, G, Opocher, G, Fallo, F

“…Idiopathic hyperaldosteronism (IHA) due to bilateral adrenal hyperplasia is the most common subtype of primary aldosteronism (PA). The pathogenesis of IHA is…”
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Endolymphatic sac tumour in von Hippel-Lindau disease: management strategies by Zanoletti, E, Girasoli, L, Borsetto, D, Opocher, G, Mazzoni, A, Martini, A

“…Endolymphatic sac tumour (ELST) is infrequent, as emerges from small series reported in the literature. It is a slow-growing malignancy with local…”
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High frequency and founder effect of the CYP3A420 loss-of-function allele in the Spanish population classifies CYP3A4 as a polymorphic enzyme by Apellániz-Ruiz, M, Inglada-Pérez, L, Naranjo, M E G, Sánchez, L, Mancikova, V, Currás-Freixes, M, de Cubas, A A, Comino-Méndez, I, Triki, S, Rebai, A, Rasool, M, Moya, G, Grazina, M, Opocher, G, Cascón, A, Taboada-Echalar, P, Ingelman-Sundberg, M, Carracedo, A, Robledo, M, Llerena, A, Rodríguez-Antona, C

“…Cytochrome P450 3A4 (CYP3A4) is a key drug-metabolizing enzyme. Loss-of-function variants have been reported as rare events, and the first demonstration of a…”
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Prevalence of AIP mutations in a large series of sporadic Italian acromegalic patients and evaluation of CDKN1B status in acromegalic patients with multiple endocrine neoplasia by Occhi, G, Trivellin, G, Ceccato, F, De Lazzari, P, Giorgi, G, Demattè, S, Grimaldi, F, Castello, R, Davì, M V, Arnaldi, G, Salviati, L, Opocher, G, Mantero, F, Scaroni, C

“…BackgroundGermline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene and the p27KIP1 encoding gene CDKN1B have been associated with two…”
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Paraganglioma of the Neck: A Study of an Endemic Zone and Role of Echo-Color Doppler in the Diagnosis and Follow-up by Casadei, A, Schiavi, F, Opocher, G, Demattè, S

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Rare diseases in clinical endocrinology: a taxonomic classification system by Marcucci, G., Cianferotti, L., Beck-Peccoz, P., Capezzone, M., Cetani, F., Colao, A., Davì, M. V., degli Uberti, E., Del Prato, S., Elisei, R., Faggiano, A., Ferone, D., Foresta, C., Fugazzola, L., Ghigo, E., Giacchetti, G., Giorgino, F., Lenzi, A., Malandrino, P., Mannelli, M., Marcocci, C., Masi, L., Pacini, F., Opocher, G., Radicioni, A., Tonacchera, M., Vigneri, R., Zatelli, M. C., Brandi, M. L.

“…Purpose Rare endocrine–metabolic diseases (REMD) represent an important area in the field of medicine and pharmacology. The rare diseases of interest to…”
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Role of ultrasound and color Doppler imaging in the detection of carotid paragangliomas by Demattè, S., Di Sarra, D., Schiavi, F., Casadei, A., Opocher, G.

“…Carotid body paragangliomas (PGLs) are highly vascularized lesions that arise from the paraganglia located at the carotid bifurcation. To evaluate the…”
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Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1 by Opocher, Giuseppe, Conton, Pierantonio, Schiavi, Francesca, Macino, Beatrice, Mantero, Franco

“…Clinical and genetic understanding of chromaffin tumors has been greatly enhanced in the last few years. Although some pheochromocytoma genes may still be…”
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Role of the Genetic Study in the Management of Carotid Body Tumor in Paraganglioma Syndrome by Antonello, M, Piazza, M, Menegolo, M, Opocher, G, Deriu, G.P, Grego, F

“…Abstract Diagnosis of carotid body tumor (CBT) was made in a 36 years old woman. The pre-operative examination included genetic analysis of the succinate…”
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A meta-iodobenzylguanidine scintigraphic scoring system increases accuracy in the diagnostic management of pheochromocytoma by Cecchin, D, Lumachi, F, Marzola, M C, Opocher, G, Scaroni, C, Zucchetta, P, Mantero, F, Bui, F

“…As observed by other authors, normal adrenal medullary tissue frequently gives an apparently positive meta-iodobenzylguanidine (MIBG) scan in cases studied…”
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Hemangioblastoma of the obex mimicking anorexia nervosa by PAVESI, G, BERLUCCHI, S, FELETTI, A, OPOCHER, G, SCIENZA, R

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Neurosurgical treatment of von Hippel-Lindau-associated hemangioblastomas: benefits, risks and outcome by Pavesi, G, Feletti, A, Berlucchi, S, Opocher, G, Martella, M, Murgia, A, Scienza, R

“…Von Hippel-Lindau (VHL) disease is a genetic syndrome predisposing to central nervous system (CNS) hemangioblastomas and several lesions in many organs. The…”
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Peptide receptor radionuclide therapy (PRRT) with 177Lu-DOTATATE in individuals with neck or mediastinal paraganglioma (PGL) by Zovato, S, Kumanova, A, Demattè, S, Sansovini, M, Bodei, L, Di Sarra, D, Casagranda, E, Severi, S, Ambrosetti, A, Schiavi, F, Opocher, G, Paganelli, G

“…Paragangliomas (PGLs) are neuroendocrine tum-ors that arise embryologically from the neural crest. Sympathetic PGLs can be located in the thoracic-abdominal…”
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Genetics and biology of pheochromocytoma by Mannelli, M, Simi, L, Gaglianò, M S, Opocher, G, Ercolino, T, Becherini, L, Parenti, G

“…The familial forms of pheochromocytoma have recently been demonstrated to be more frequent than believed in the past. The genes currently known to be…”
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Adrenal incidentaloma: an overview of hormonal data from the National Italian Study Group by Mantero, F, Masini, A M, Opocher, G, Giovagnetti, M, Arnaldi, G

“…Adrenal masses are more and more frequently detected by adrenal ultrasound, computed tomography or nuclear magnetic resonance carried out for a reason other…”
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The genetic basis of pheochromocytoma by Gimm, O, Koch, C A, Januszewicz, A, Opocher, G, Neumann, H P

“…Until very recently, the majority of hereditary pheochromocytomas were related to the MEN 2 and the VHL. In rare instances, hereditary pheochromocytoma was…”
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Somatic mosaicism in von Hippel-Lindau disease by Murgia, Alessandra, Martella, Maddalena, Vinanzi, Cinzia, Polli, Roberta, Perilongo, Giorgio, Opocher, Giuseppe

“…von Hippel‐Lindau (VHL) disease is an autosomal dominant familial cancer syndrome predisposing to the development of retinal and central nervous system…”
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The pheochromocytoma and paraganglioma syndrome: Founder effects and the PGL 1 syndrome by Opocher, G, Boaretto, F, Pignataro, V, Demattè, S, Cecchini, M.E, Erlic, Z, Schiavi, F

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MEN2A/FMTC AND THE V804M RET MUTATION by Mian, C, Zambonin, L, Barollo, S, Schiavi, F, Toniato, A, Boschin, I. Merante, Demattè, S, Spiazzi, G, Mantero, F, Opocher, G

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Fine analysis of the short arm of chromosome 1 in sporadic and familial pheochromocytoma by Opocher, G., Schiavi, F., Vettori, A., Pampinella, F., Vitiello, L., Calderan, A., Vianello, B., Murgia, A., Martella, M., Taccaliti, A., Mantero, F., Mostacciuolo, M. L.

“…Summary objective  Despite the very recent discovery that about 25% of apparently sporadic forms of pheochromocytoma are actually due to germline mutations of…”
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