A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma

by Monica De Luise, Vito Guarnieri, Claudio Ceccarelli, Leonardo D’Agruma, Anna Maria Porcelli, Giuseppe Gasparre
Published 2019-01-01

Improving the diagnosis of X-linked hypophosphatemia: recommendations to optimize diagnostic flow and clinician/geneticist cooperation in the Italian clinical practice

by Emanuele Agolini, Roberto Chimenz, Danilo Fintini, Vito Guarnieri, Laura Guazzarotti, Stefano Mora, Leonardo Salviati, Giovanna Weber
Published 2021-04-01

Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the...

by Luigia Cinque, Cristina Angeletti, Alfredo Orrico, Stefano Castellana, Lucia Ferrito, Cristina Ciuoli, Tommaso Mazza, Marco Castori, Vito Guarnieri
Published 2020-12-01

Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

by Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di lorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia
Published 2018-10-01

Correction to: Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation

by Manuela Capozza, Iolanda Chinellato, Vito Guarnieri, Natascia Di Iorgi, Maria Accadia, Cristina Traggiai, Girolamo Mattioli, Antonio Di Mauro, Nicola Laforgia
Published 2019-11-01

Imaging technologies in the differential diagnosis and follow-up of brown tumor in primary hyperparathyroidism: Case report and review of the literature

by Davide Diacinti, Cristiana Cipriani, Federica Biamonte, Jessica Pepe, Luciano Colangelo, Endi Kripa, Antonio Iannacone, Martina Orlandi, Vito Guarnieri, Daniele Diacinti, Salvatore Minisola
Published 2021-06-01

Small Deletion at the 7q21.2 Locus in a CCM Family Detected by Real-Time Quantitative PCR

by Lucia Anna Muscarella, Vito Guarnieri, Michelina Coco, Serena Belli, Paola Parrella, Giuseppe Pulcrano, Domenico Catapano, Vincenzo A. D'Angelo, Leopoldo Zelante, Leonardo D'Agruma
Published 2010-01-01

Exon-Trapping Assay Improves Clinical Interpretation of <i>COL11A1</i> and <i>COL11A2</i> Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

by Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Published 2020-12-01

Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri
Published 2020-01-01

Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

by Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E. C. Cole
Published 2017-08-01

Erratum to: Large intragenic deletion of CDC73 (exons 4–10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family

by Vito Guarnieri, Raewyn M. Seaberg, Catherine Kelly, M. Jean Davidson, Simon Raphael, Andrew Y. Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N. Hendy, David E.C. Cole
Published 2017-09-01

Yes-Associated Protein 1 Is a Novel Calcium Sensing Receptor Target in Human Parathyroid Tumors

by Giulia Stefania Tavanti, Chiara Verdelli, Annamaria Morotti, Paola Maroni, Vito Guarnieri, Alfredo Scillitani, Rosamaria Silipigni, Silvana Guerneri, Riccardo Maggiore, Gilberto Mari, Leonardo Vicentini, Paolo Dalino Ciaramella, Valentina Vaira, Sabrina Corbetta
Published 2021-02-01

MEN1 gene mutation with parathyroid carcinoma: first report of a familial case

by Luigia Cinque, Angelo Sparaneo, Antonio S Salcuni, Danilo de Martino, Claudia Battista, Francesco Logoluso, Orazio Palumbo, Roberto Cocchi, Evaristo Maiello, Paolo Graziano, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri
Published 2017-11-01

Identification and functional characterization of three NoLS (nucleolar localisation signals) mutations of the CDC73 gene.

by Valerio Pazienza, Annamaria la Torre, Filomena Baorda, Michela Alfarano, Massimiliano Chetta, Lucia Anna Muscarella, Claudia Battista, Massimiliano Copetti, Dieter Kotzot, Klaus Kapelari, Dalia Al-Abdulrazzaq, Kusiel Perlman, Etienne Sochett, David E C Cole, Fabio Pellegrini, Lucie Canaff, Geoffrey N Hendy, Leonardo D'Agruma, Leopoldo Zelante, Massimo Carella, Alfredo Scillitani, Vito Guarnieri
Published 2013-01-01