Search Results - "Artuso, L."

Targeted cancer exome sequencing reveals recurrent mutations in myeloproliferative neoplasms by Tenedini, E, Bernardis, I, Artusi, V, Artuso, L, Roncaglia, E, Guglielmelli, P, Pieri, L, Bogani, C, Biamonte, F, Rotunno, G, Mannarelli, C, Bianchi, E, Pancrazzi, A, Fanelli, T, Malagoli Tagliazucchi, G, Ferrari, S, Manfredini, R, Vannucchi, A M, Tagliafico, E

“…With the intent of dissecting the molecular complexity of Philadelphia-negative myeloproliferative neoplasms (MPN), we designed a target enrichment panel to…”
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Amplicon-based next-generation sequencing: an effective approach for the molecular diagnosis of epidermolysis bullosa by Tenedini, E., Artuso, L., Bernardis, I., Artusi, V., Percesepe, A., De Rosa, L., Contin, R., Manfredini, R., Pellacani, G., Giannetti, A., Pagani, J., De Luca, M., Tagliafico, E.

“…Summary Background Epidermolysis bullosa (EB) is caused by mutations in genes that encode proteins belonging to the epidermal–dermal junction assembly. Due to…”
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Genetic heterogeneity of primary hpobetalipoproteinemia reveald by the next generation sequencing (NGS) by Di Leo, E, Simone, M.L, Artuso, L, Bernardis, I, Tagliafico, E, Tarugi, P

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Effectiveness of an hospital bed management model: results of four years of follow-up by Novati, R, Papalia, R, Peano, L, Gorraz, A, Artuso, L, Canta, M G, Del Vescovo, G, Galotto, C

“…Several experiences of Bed Management have been published, most of them focusing on Emergency Department organization. Aosta Hospital is 70 km away from the…”
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Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA by Zoccolella, S., Artuso, L., Capozzo, R., Amati, A., Guerra, F., Simone, I., Logroscino, G., Petruzzella, V.

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Clinical application of NGS in the diagnosis of iron overload disorders or hyperferritinemia of genetic origin by Ricci, A., Bergamini, E., Scarlini, S., Buzzetti, E., Caleffi, A., Rabacchi, C., Ventura, P., Artuso, L., Tenedini, E., Tagliafico, E., Pietrangelo, A., Corradini, E.

“…The liver is central in the pathophysiology and clinical manifestations of most genetic iron-loading disorders. Although HFE- hemochromatosis is the most…”
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PS-107 - Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study by Corradini, E., Bernardis, I., Dongiovanni, P., Buzzetti, E., Caleffi, A., Artuso, L., Pelusi, S., Tenedini, E., Tagliafico, E., Rametta, R., Fracanzani, A.L., Fargion, S., Pietrangelo, A., Valenti, L.

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Rare ceruloplasmin variants are associated with hyperferritinemia and increased hepatic iron in NAFLD patients: results from a NGS study by Corradini, E., Bernardis, I., Dongiovanni, P., Buzzetti, E., Caleffi, A., Artuso, L., Pelusi, S., Tenedini, E., Tagliafico, E., Rametta, R., Fracanzani, A.L., Fargion, S., Pietrangelo, A., Valenti, L.

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Tie2 Expressing Monocytes in the Spleen of Patients with Primary Myelofibrosis by Campanelli, Rita, Fois, Gabriela, Catarsi, Paolo, Poletto, Valentina, Villani, Laura, Erba, Benedetta Gaia, Maddaluno, Luigi, Jemos, Basilio, Salmoiraghi, Silvia, Guglielmelli, Paola, Abbonante, Vittorio, Di Buduo, Christian Andrea, Balduini, Alessandra, Iurlo, Alessandra, Barosi, Giovanni, Rosti, Vittorio, Massa, Margherita

“…Primary myelofibrosis (PMF) is a Philadelphia-negative (Ph-) myeloproliferative disorder, showing abnormal CD34+ progenitor cell trafficking, splenomegaly,…”
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Use of Gracile and semi-tendinosus tendons (GRAST) for the reconstruction of irreparable rotator cuff tears by Protais, Marie, Laurent-Perrot, Maxime, Artuso, Mickaël, Moody, M Christian, Sautet, Alain, Soubeyrand, Marc

“…Irreparable rotator cuff tears are common and difficult to treat. Techniques for "filling the loss of substance" require fixation to the rotator cuff stump…”
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DDC-4, an apoptosis-associated gene, is a secreted frizzled relative by Wolf, Vladimir, Ke, Guo, Dharmarajan, A.M, Bielke, Wolfgang, Artuso, Livia, Saurer, Susanne, Friis, Robert

“…The differential display method has been used in our laboratory as a coincidence analysis to isolate genes expressed in common in each of three different rat…”
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Mitochondrial genome large rearrangements in the skeletal muscle of a patient with PMA by Zoccolella, S, Artuso, L, Capozzo, R, Amati, A, Guerra, F, Simone, I, Logroscino, G, Petruzzella, V

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