IRCCS Casa Sollievo della Sofferrenza opera di San Pio da Pietrelcina

Informazioni aggiuntive

• Pubblicazioni Scientifiche:
  

  Totale pubblicazioni a partire dal 2011: 55

  
  

  2020; 2020(): 2080797 Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma. Cinque L, Pugliese F, Clemente C, Castellana S, Leone MP, de Martino D, Balsamo T, Battista C, Biagini T, Graziano P, Castori M, Scillitani A, Guarnieri V

  2019; 2019(): 8069583 A Nonsense Mitochondrial DNA Mutation Associates with Dysfunction of HIF1α in a Von Hippel-Lindau Renal Oncocytoma. De Luise M, Guarnieri V, Ceccarelli C, D'Agruma L, Porcelli AM, Gasparre G

  2019; 10(12): Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome. Micale L, Guarnieri V, Augello B, Palumbo O, Agolini E, Sofia VM, Mazza T, Novelli A, Carella M, Castori M

  2019; 28(13): 2133-2142 Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants. Fusco C, Nardella G, Fischetto R, Copetti M, Petracca A, Annunziata F, Augello B, D'Asdia MC, Petrucci S, Mattina T, Rella A, Cassina M, Bengala M, Biagini T, Causio FA, Caldarini C, Brancati F, De Luca A, Guarnieri V, Micale L, D'Agruma L, Castori M

  2019; (): Molecular diagnostic workflow, clinical interpretation of sequence variants and data repository procedures in 140 individuals with familial cerebral cavernous malformations. Fusco C, Copetti M, Mazza T, Amoruso L, Mastoianno S, Nardella G, Guarnieri V, Micale L, D'Agruma L, Castori M

  2019; (): Cardiac valvular Ehlers-Danlos syndrome is a well-defined condition due to recessive null variants in COL1A2. Guarnieri V, Morlino S, Di Stolfo G, Mastroianno S, Mazza T, Castori M

  2018; 32(6): 877-889 Parathyroid carcinoma. Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC

  2018; (): Molecular pathogenesis of parathyroid tumours. Cinque L, Pugliese F, Salcuni AS, Scillitani A, Guarnieri V

  2018; 18(1): 340 Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation. Capozza M, Chinellato I, Guarnieri V, Di Lorgi N, Accadia M, Traggiai C, Mattioli G, Di Mauro A, Laforgia N

  2018; 25(7): 761-771 The aberrantly expressed miR-372 partly impairs sensitivity to apoptosis in parathyroid tumor cells. Verdelli C, Forno I, Morotti A, Creo P, Guarnieri V, Scillitani A, Cetani F, Vicentini L, Balza G, Beretta E, Ferrero S, Vaira V, Corbetta S

  2018; (): Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass. Guarnieri V, Castori M

  2018; (): A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. Nardella G, Visci G, Guarnieri V, Castellana S, Biagini T, Bisceglia L, Palumbo O, Trivisano M, Vaira C, Scerrati M, Debrasi D, D'Angelo V, Carella M, Merla G, Mazza T, Castori M, D'Agruma L, Fusco C

  2018; 9(29): 20721-20733 Large deletion at the CDC73 gene locus and search for predictive markers of the presence of a CDC73 genetic lesion. Muscarella LA, Turchetti D, Fontana A, Baorda F, Palumbo O, la Torre A, de Martino D, Franco R, Losito NS, Repaci A, Pagotto U, Cinque L, Copetti M, Chiofalo MG, Pezzullo L, Graziano P, Scillitani A, Guarnieri V

  2017; (): MEN1 gene mutation with parathyroid carcinoma: first report of a familial case. Cinque L, Sparaneo A, Salcuni AS, De Martino DG, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy G, Cole DEC, Scillitani A, Guarnieri V

  2017; (): PRIMARY ALDOSTERONISM AS A CAUSE OF SECONDARY OSTEOPOROSIS. Salcuni AS, Carnevale V, Battista C, Palmieri S, Eller-Vainicher C, Guarnieri V, Pugliese F, Guglielmi G, Desina G, Minisola S, Chiodini I, Scillitani A

  2017; (): Novel Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family with Familial Isolated Hypoparathyroidism. Cinque L, Sparaneo A, Penta L, Mencarelli A, Rogaia D, Esposito S, Fabrizio FP, Baorda F, Verrotti A, Falorni A, Stangoni G, Hendy GN, Guarnieri V, Prontera P

  2017; (): Expression, function, and regulation of the embryonic transcription factor TBX1 in parathyroid tumors. Verdelli C, Avagliano L, Guarnieri V, Cetani F, Ferrero S, Vicentini L, Beretta E, Scillitani A, Creo P, Bulfamante GP, Vaira V, Corbetta S

  2017; 18(1): 83 Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family. Guarnieri V, Seaberg RM, Kelly C, Jean Davidson M, Raphael S, Shuen AY, Baorda F, Palumbo O, Scillitani A, Hendy GN, Cole DEC

  2017; 14(1): 23-30 Novel association of MEN1 gene mutations with parathyroid carcinoma. Cinque L, Sparaneo A, Cetani F, Coco M, Clemente C, Chetta M, Balsamo T, Battista C, Sanpaolo E, Pardi E, D'Agruma L, Marcocci C, Maiello E, Hendy GN, Cole DEC, Scillitani A, Guarnieri V

  2017; (): Alterations of DNA methylation in parathyroid tumors. Guarnieri V, Muscarella LA, Verdelli C, Corbetta S

  2016; (): Filamin A is reduced and contributes to the CASR sensitivity in human parathyroid tumors. Mingione A, Verdelli C, Ferrero S, Vaira V, Guarnieri V, Scillitani A, Vicentini L, Balza G, Beretta E, Terranegra A, Vezzoli G, Soldati L, Corbetta S

  2016; (): Vitamin D status in primary hyperparathyroidism: effect of genetic background. Battista C, Guarnieri V, Carnevale V, Baorda F, Pileri M, Garrubba M, Salcuni AS, Chiodini I, Minisola S, Romagnoli E, Eller-Vainicher C, Santini SA, Parisi S, Frusciante V, Fontana A, Copetti M, Hendy GN, Scillitani A, Cole DE

  2016; (): EZH2 and ZFX oncogenes in malignant behaviour of parathyroid neoplasms. Sanpaolo E, Miroballo M, Corbetta S, Verdelli C, Baorda F, Balsamo T, Graziano P, Fabrizio FP, Cinque L, Scillitani A, Muscarella LA, Guarnieri V

  Endocrinology, diabetes and metabolism case reports 2015; 2015(): 150019 Primary hyperparathyroidism and Klinefelter's syndrome in a young man. Castellano E, Pellegrino M, Attanasio R, Guarnieri V, Maffè A, Borretta G

  2014; : Tumour-associated fibroblasts contribute to neoangiogenesis in human parathyroid neoplasia Verdelli C., Avagliano L. , Creo P., Guarnieri V. , Scillitani A ., Vicentini L . , Steffano G.B., Beretta E. , Soldati L., Costa E., Spada A., Bulfamante G.P. and Corbetta S.

  2014; (): jc20142857 Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts. D'Agruma L, Coco M, Guarnieri V, Battista C, Canaff L, Salcuni AS, Corbetta S, Cetani F, Minisola S, Chiodini I, Eller-Vainicher C, Spada A, Marcocci C, Guglielmi G, Zini M, Clemente R, Wong BY, de Martino D, Scillitani A, Hendy GN, Cole DE

  BMC ENDOCRINE DISORDERS 2014; 14(1): 81 A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria. Mastromatteo E, Lamacchia O, Campo MR, Conserva A, Baorda F, Cinque L, Guarnieri V, Scillitani A, Cignarelli M

  2014; 37(4): 281-8 A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome. Chiofalo MG, Sparaneo A, Chetta M, Franco R, Baorda F, Cinque L, Granatiero M, D'Agruma L, Pezzullo L, Scillitani A, Guarnieri V

  2014; (): Risk of nephrolithiasis in primary hyperparathyroidism is associated with two polymorphisms of the calcium-sensing receptor gene. Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Macrina L, Mingione A, Brasacchio C, Eller-Vainicher C, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L

  2014; (): Calcium-sensing related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population. Stratta P, Merlotti G, Musetti C, Quaglia M, Pagani A, Izzo C, Radin E, Airoldi A, Baorda F, Palladino T, Leone MP, Guarnieri V

  2014; 171(3): 399-406 Factors associated with vertebral fracture risk in patients with primary hyperparathyroidism. Eller-Vainicher C, Battista C, Guarnieri V, Muscarella S, Palmieri S, Salcuni AS, Guglielmi G, Corbetta S, Minisola S, Spada A, Hendy GN, Cole DE, Chiodini I, Scillitani A

  2013; 8(12): e82292 Identification and Functional Characterization of Three NoLS (Nucleolar Localisation Signals) Mutations of the CDC73 Gene Pazienza V, la Torre A, Baorda F, Alfarano M, Chetta M, Muscarella LA, Battista C, Copetti M, Kotzot D, Kapelari K, Al-Abdulrazzaq D, Perlman K, Sochett E, Cole DE, Pellegrini F, Canaff L, Hendy GN, D'Agruma L, Zelante L, Carella M, Scillitani A, Guarnier

  XVI Congresso Nazionale SIGU 2013; : 15 MicroRNA-139-5p regulates human TIM expression in colon cancer cell lines Panza A., Gentile A., Valvano R., Augello B., Tavano F., Merla G., Guarnieri V., Andriulli A., Mazzoccoli G., Piepoli A.

  2013; 45: S56 Hepatitis delta virus (HDV) induces specific DNA methylation events towards malignancy in hepatoma cells Benegiamo G., Vinciguerra M., Guarnieri V., Niro G.A., Andriulli A., Pazienza V.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P279 Raro caso di sincrona insorgenza di carcinoma delle paratiroidi e delle vie biliari extraepatiche (coledoco): analisi di CNV rivela nuovi possibili geni coinvolti nella tumorigenesi delle due diverse patologie Palumbo O., Salcuni A.S., Clemente C., Caruso N., Battista C., Di Candia L. , Bisceglia M., Maiello E., Scillitani A., Guarnieri V.

  Società Italiana di Genetica Umana - XVI Congresso Nazionale 2013; : P131 Screening negativo dei geni CASR, GNA11 e AP2S1 in una coorte di pazienti affetti da ipercalcemia ipocalciurica familiare (FHH): c’è posto per un altro gene? Guarnieri V., Palladino T., Leone M.P., Baorda F., Battista C., Salcuni A.S., D'Agruma L., Cole D.E., Hendy G.N., Scillitani A.

  2013; 587(9): 1424-8 Hepatitis delta virus induces specific DNA methylation processes in Huh-7 liver cancer cells. Benegiamo G, Vinciguerra M, Guarnieri V, Niro GA, Andriulli A, Pazienza V

  2012; (): 20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis. Ciavarella M, Coco M, Baorda F, Stanziale P, Chetta M, Bisceglia L, Palumbo P, Bengala M, Raiteri P, Silengo M, Caldarini C, Facchini R, Lala R, Cavaliere ML, De Brasi D, Pasini B, Zelante L, Guarnieri V, D'Agruma L

  2012; 35(6): 411-22 CDC73 mutations and parafibromin immunohistochemistry in parathyroid tumors: clinical correlations in a single-centre patient cohort. Guarnieri V, Battista C, Muscarella LA, Bisceglia M, de Martino D, Baorda F, Maiello E, D'Agruma L, Chiodini I, Clemente C, Minisola S, Romagnoli E, Corbetta S, Viti R, Eller-Vainicher C, Spada A, Iacobellis M, Malavolta N, Carella M, Canaff L, Hendy GN,

  2012; 27(10): 2217-22 Bone involvement in aldosteronism. Salcuni AS, Palmieri S, Carnevale V, Morelli V, Battista C, Guarnieri V, Guglielmi G, Desina G, Eller-Vainicher C, Beck-Peccoz P, Scillitani A, Chiodini I

  2012; 107(3): 548-52 CASR gene activating mutations in two families with autosomal dominant hypocalcemia. Guarnieri V, Valentina D'Elia A, Baorda F, Pazienza V, Benegiamo G, Stanziale P, Copetti M, Battista C, Grimaldi F, Damante G, Pellegrini F, D'Agruma L, Zelante L, Carella M, Scillitani A

  2012; 49(2): 115-124 The microRNA cluster C19MC is deregulated in parathyroid tumours. Vaira V, Elli F, Forno I, Guarnieri V, Verdelli C, Ferrero S, Scillitani A, Vicentini L, Cetani F, Mantovani G, Spada A, Bosari S, Corbetta S

  2012; 56: s174 Hepatitis Delta Virus upregulates DNMT3B through STAT3 activation in HUH-7 cells Benegiamo G, Vinciguerra M, Mazzoccoli G, Guarnieri V, Niro G, Andriulli A, Pazienza V

  2011; 34(7 Suppl): 23-6 Carboxyl-terminal parathyroid hormone fragments: biologic effects. Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 440 Prima mutazione del gene CASR in una casistica italiana di pazienti affetti da epilessia generalizzata idiopatica Guarnieri V, Baorda F, Germano M, D'Orsi G, Trevisano M, Specchio LM, Fabretto A, D'Agruma L, Cole DE, Hendy GN, Carella M, Zelante L

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 176 Analisi molecolare e funziona2 in una casistica italiana di pazienti con esostosi multiple Guarnieri V, Ciavarella M, Stanziale P, Baorda F, Procino G, Caldarini C, Facchini R, Lala R, Svelto M, Zelante L, D'Agruma L

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 170 Ruolo dei Polimorfismi funzionali nel gene CASR nella malattia di Alzheimer sporadica Guarnieri V, Paroni G, Bizzarro A, Gravina C, Nocco A, Baorda F, Urbano M, Daniele A, Scillitani A, Logroscino G, Masullo C, Greco A

  XIV Congresso Nazionale della Società Italiana di Genetica Umana 2011; SIGU: cod. 169 Nuove mutazioni del gene CASR in pazienti affetti da FHH, ADH e PHPT Guarnieri V, Baorda F, Stanziale P, Battista C, Procino G, Stratta P, D'Elia AV, Damante G, Romagnoli E, Minisola S, D'Agruma L, Carella M

  2011; 164(3): 421-7 Polymorphisms at the regulatory regions of the CASR gene influence stone risk in primary hyperparathyroidism. Vezzoli G, Scillitani A, Corbetta S, Terranegra A, Dogliotti E, Guarnieri V, Arcidiacono T, Paloschi V, Rainone F, Eller-Vainicher C, Borghi L, Nouvenne A, Guerra A, Meschi T, Allegri F, Cusi D, Spada A, Cole DE, Hendy GN, Spotti D, Soldati L

  2011; (): A rare S33C mutation of CTNNB1 encoding ß-catenin in a parathyroid adenoma found in an Italian primary hyperparathyroid cohort. Guarnieri V, Baorda F, Battista C, Bisceglia M, Balsamo T, Gruppioni E, Fiorentino M, Muscarella LA, Coco M, Barbano R, Corbetta S, Spada A, Cole DE, Canaff L, Hendy GN, Carella M, Scillitani A

  2011; : Abstract D39 - XIII Congresso Nazionale di Oncologia Medica, Bologna 2011 Muscarella LA et al.

  2011; 34(7): 40-44 Sporadic and hereditary primary hyperparathyroidism Pepe J, Cipriani C, Pilotto R, De Lucia F, Castro C, Lenge L, Russo S, Guarnieri V, Scillitani A, Carnevale V, D'Erasmo E, Romagnoli E, Minisola S

  2011; 34(7): 23-26 Carboxyl-terminal parathyroid hormone fragments: Biologic effects Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V

  2011; 40(3): 481-5 Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family. Mastroianno S, Torlontano M, Scillitani A, D'Aloiso L, Verrienti A, Bonfitto N, De Bonis A, D'Agruma L, Muscarella LA, Guarnieri V, Dicembrino F, Maranghi M, Durante C, Filetti S

  2011; 6(6): Frequent epigenetics inactivation of KEAP1 gene in non-small cell lung cancer. Muscarella LA, Parrella P, D'Alessandro V, la Torre A, Barbano R, Fontana A, Tancredi A, Guarnieri V, Balsamo T, Coco M, Copetti M, Pellegrini F, De Bonis P, Bisceglia M, Scaramuzzi G, Maiello E, Valori VM, Merla G, Vendemiale G, Fazio VM