Search Results - "MARTORANA, D."

Genetic aspects of anti-neutrophil cytoplasmic antibody-associated vasculitis by Alberici, Federico, Martorana, Davide, Vaglio, Augusto

“…The genetics of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a complex area of investigation because of the low frequency of…”
Get full text

Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study by Marina, M., Zatelli, M. C., Goldoni, M., Del Rio, P., Corcione, L., Martorana, D., Percesepe, A., Bonatti, F., Mozzoni, P., Crociara, A., Ceresini, G.

“…Purpose Malignancy prediction in indeterminate thyroid nodules is still challenging. We prospectively evaluated whether the combination of ultrasound (US) risk…”
Get full text

Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes by Bonatti, F., Adorni, A., Percesepe, A., Martorana, D.

“…Summary The FCGR locus is characterized by high polymorphism and sequence homology. In particular, the Ile232Thr polymorphism in the FCGR2B gene results in…”
Get full text

A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever by Farjadian, S, Bonatti, F, Soriano, A, Reina, M, Adorni, A, Graziano, C, Moghtaderi, M, Percesepe, A, Romeo, G, Martorana, D

“…Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving…”
Get full text

Eotaxin/CCL11 in idiopathic retroperitoneal fibrosis by MANGIERI, Domenica, CORRADI, Domenico, ALINOVI, Rossella, BUZIO, Carlo, VAGLIO, Augusto, MARTORANA, Davide, MALERBA, Giovanni, PALMISANO, Alessandra, LIBRI, Irene, BARTOLI, Veronica, CARNEVALI, Maria L, GOLDONI, Matteo, GOVONI, Paolo

“…Idiopathic retroperitoneal fibrosis (IRF) is a rare fibro-inflammatory disorder characterized by a periaortic tissue which often encases the ureters causing…”
Get full text

CC chemokine receptor 5 polymorphism in chronic periaortitis by BOIARDI, Luigi, VAGLIO, Augusto, GALLELLI, Beniamina, BUZIO, Carlo, SALVARANI, Carlo, NICOLI, Davide, FARNETTI, Enrico, PALMISANO, Alessandra, PIPITONE, Nicolo, MARITATI, Federica, CASALI, Bruno, MARTORANA, Davide, MORONI, Gabriella

“…Chronic periaortitis (CP) is a rare disease characterized by a fibro-inflammatory tissue surrounding the abdominal aorta, and includes non-aneurysmal…”
Get full text

Associations between two single nucleotide polymorphisms of the adiponectin gene, its circulating concentrations and cardiometabolic risk factors in prepubertal children with and without abdominal obesity by Galcheva, S. V., Martorana, D., Iotova, V. M., Yotov, Y., Neri, T. M., Street, M. E.

“…Background: The adiponectin gene has been identified as a susceptibility locus for metabolic syndrome, diabetes and cardiovascular disease. Aim: To examine the…”
Get full text

Eotaxin-3 in Churg―Strauss syndrome: a clinical and immunogenetic study by ZWERINA, Jochen, BACH, Christian, NEUMANN, Thomas, SPRIEWALD, Bernd M, SCHETT, Georg, VAGLIO, Augusto, MARTORANA, Davide, JATZWAUK, Maria, HEGASY, Guido, MOOSIG, Frank, BREMER, Jan, WIECZOREK, Stefan, MOSCHEN, Alexander, TILG, Herbert

Get full text

P.09.3 CONTRIBUTION OF ALLELE TO THE GENETIC SUSCEPTIBILITY OF AUTOIMMUNE PANCREATITIS: PRELIMINARY DATA by Amodio, A, Frulloni, L, Goni, E, Martorana, D, Zuppardo, R.A, Vantini, I, Cavestro, G.M

Get full text

Spectrum of F8 gene mutations in haemophilia A patients from a region of Italy: identification of 23 new mutations by RICCARDI, F., TAGLIAFERRI, A., MARTORANA, D., RIVOLTA, G. F., VALDRÈ, L., RODORIGO, G., BIASOLI, C., D'INCÀ, M., SERINO, M. L., MACCHI, S., VINCENZI, D., ARBASI, M., PEDRAZZI, P., VOLTA, M., DI PERNA, C., IPPOLITO, L., SAVI, M., NERI, T. M.

“…Haemophilia A (HA) is an X‐linked recessive bleeding disorder caused by a lack or decrease of coagulation factor VIII activity. The molecular diagnosis of HA…”
Get full text

Contribution of HLA-DRB104 allele to the genetic susceptibility of autoimmune pancreatitis: Preliminary data by Frulloni, L, Amodio, A, Goni, E, Martorana, D, Zuppardo, R.A, Katsotourchi, A.M, De Marchi, G, Vantini, I, Cavestro, G.M

Get full text

Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status by Lyons, Paul A, Peters, James E, Alberici, Federico, Liley, James, Coulson, Richard M. R., Astle, William, Baldini, Chiara, Bonatti, Francesco, Cid, Maria C, Elding, Heather, Emmi, Giacomo, Epplen, Jörg, Guillevin, Loïc, Jayne, David R. W., Jiang, Tao, Gunnarsson, Iva, Lamprecht, Peter, Leslie, Stephen, Little, Mark A., Martorana, Davide, Moosig, Frank, Neumann, Thomas, Ohlsson, Sophie, Quickert, Stefanie, Ramirez, Giuseppe A., Rewerska, Barbara, Schett, Georg, Sinico, Renato A., Szczeklik, Wojciech, Tesar, Vladimir, Vukcevic, Damjan, Terrier, Benjamin, Watts, Richard A, Vaglio, Augusto, Holle, Julia U, Wallace, Chris, Smith, Kenneth G. C.

“…Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic…”
Get full text

Genetically Distinct Subsets within ANCA-Associated Vasculitis by Lyons, Paul A, Rayner, Tim F, Trivedi, Sapna, Holle, Julia U, Watts, Richard A, Jayne, David R.W, Baslund, Bo, Brenchley, Paul, Bruchfeld, Annette, Chaudhry, Afzal N, Cohen Tervaert, Jan Willem, Deloukas, Panos, Feighery, Conleth, Gross, Wolfgang L, Guillevin, Loic, Gunnarsson, Iva, Harper, Lorraine, Hrušková, Zdenka, Little, Mark A, Martorana, Davide, Neumann, Thomas, Ohlsson, Sophie, Padmanabhan, Sandosh, Pusey, Charles D, Salama, Alan D, Sanders, Jan-Stephan F, Savage, Caroline O, Segelmark, Mårten, Stegeman, Coen A, Tesař, Vladimir, Vaglio, Augusto, Wieczorek, Stefan, Wilde, Benjamin, Zwerina, Jochen, Rees, Andrew J, Clayton, David G, Smith, Kenneth G.C

“…This study confirms the presence of a genetic component of the pathogenesis of antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis and genetic…”
Get full text

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations by Martorana, Davide, Bonatti, Francesco, Mozzoni, Paola, Vaglio, Augusto, Percesepe, Antonio

“…Autoinflammatory diseases (AIDs) are a genetically heterogeneous group of diseases caused by mutations of genes encoding proteins, which play a pivotal role in…”
Get full text

Association of a TNFSF13B (BAFF) regulatory region single nucleotide polymorphism with response to rituximab in antineutrophil cytoplasmic antibody–associated vasculitis by Alberici, Federico, MD, Smith, Rona M., MD, Fonseca, Mariana, PhD, Willcocks, Lisa C., PhD, Jones, Rachel B., MD, Holle, Julia U., PhD, Wieczorek, Stefan, MD, Neumann, Thomas, PhD, Martorana, Davide, PhD, Gregorini, Gina, MD, Sinico, Renato A., MD, Bruchfeld, Annette, PhD, Gunnarsson, Iva, PhD, Ohlsson, Sophie, PhD, Baslund, Bo, PhD, Tesar, Vladimir, PhD, Hruskova, Zdenka, PhD, Cid, Maria C., PhD, Vaglio, Augusto, PhD, Lyons, Paul A., PhD, Smith, Kenneth G.C., PhD, Jayne, David R.W., MD

“…To the Editor: Rituximab is effective at inducing and maintaining remission in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV).1,2 The…”
Get full text

Genetics of ANCA-associated vasculitides: HLA and beyond by Alberici, Federico, Martorana, Davide, Bonatti, Francesco, Gioffredi, Andrea, Lyons, Paul A, Vaglio, Augusto

“…The pathogenesis of ANCA-associated vasculitis (AAV) is multifactorial and most likely involves the interaction of environmental and genetic factors. During…”
Get full text

P03-010-B - A novel mutation in MEFV gene is not enough by Martorana, D, Carrabba, M, Fabio, G

Get full text

Neurofibromatosis type I and multiple myeloma coexistence: A possible link? by Accardi, Fabrizio, Marchica, Valentina, Mancini, Cristina, Maredi, Elena, Racano, Costantina, Notarfranchi, Laura, Martorana, Davide, Storti, Paola, Martella, Eugenia, Palma, Benedetta Dalla, Craviotto, Luisa, Filippo, Massimo De, Percesepe, Antonio, Aversa, Franco, Giuliani, Nicola

“…The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the…”
Get full text

GENETIC EVIDENCE OF EOSINOPHIL NUMBER UNDERPINNING PR3-AAV AND PLAUSIBLE HOST GENETIC PREDISPOSITION TO MICROBIAL DRIVERS OF DISEASE by Wong, L, Mescia, F, Alberici, F, Ball, MJ, Baslund, B, Brenchley, P, Bruchfeld, A, Cid, MC, Tervaert, JWC, Coulson, RMR, Farahi, N, Feighery, C, Gross, WL, Guillevin, L, Gunnarsson, I, Harper, L, Holle, JU, Hruskova, Z, Jayne, DRW, Lamprecht, P, Leslie, S, Little, MA, Martorana, D, Neumann, T, Ohlsson, S, Peh, CA, Pusey, CD, Quickert, S, Ramirez, GA, Rees, AJ, Rewerska, B, Salama, AD, Sanders, JSF, Savage, CO, Segelmark, M, Solans, R, Stegeman, CA, Szczeklik, W, Terrier, B, Tesar, V, Watts, RA, Wieczorek, S, Wilde, B, Zwerina, J, Vaglio, A, Lyons, PA, Smith, KGC

Get full text

Copy number variations of FCGR3B in eosinophilic granulomatosis with polyangiitis (Churg-Strauss) by Bonatti, F., Gioffredi, A., Maritati, F., Alberici, F., Urban, M.L., Palmisano, A., Oliva, E., Manenti, L., Tumiati, B., Pesci, A., Fraticelli, P., Guida, G., Moroni, G., Roccatello, D., Gregorini, G., Sinico, R.A., Neri, T.M., Buzio, C., Martorana, D., Vaglio, A.

Get full text