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Items: 1 to 50 of 77

1.

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.

Genes (Basel). 2019 Nov 25;10(12). pii: E967. doi: 10.3390/genes10120967.

2.

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

Capozza M, Chinellato I, Guarnieri V, Di Iorgi N, Accadia M, Traggiai C, Mattioli G, Di Mauro A, Laforgia N.

BMC Pediatr. 2019 Nov 27;19(1):463. doi: 10.1186/s12887-019-1850-7.

3.

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.

Hum Mutat. 2019 Nov;40(11):e24-e36. doi: 10.1002/humu.23851.

PMID:
31254430
4.

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.

Am J Med Genet A. 2019 May;179(5):846-851. doi: 10.1002/ajmg.a.61100. Epub 2019 Mar 1.

PMID:
30821104
5.

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.

Hum Mol Genet. 2019 Jul 1;28(13):2133-2142. doi: 10.1093/hmg/ddz046.

PMID:
30806661
6.

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.

Oxid Med Cell Longev. 2019 Jan 9;2019:8069583. doi: 10.1155/2019/8069583. eCollection 2019.

7.

Parathyroid carcinoma.

Salcuni AS, Cetani F, Guarnieri V, Nicastro V, Romagnoli E, de Martino D, Scillitani A, Cole DEC.

Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):877-889. doi: 10.1016/j.beem.2018.11.002. Epub 2018 Dec 1. Review.

PMID:
30551989
8.

Molecular pathogenesis of parathyroid tumours.

Cinque L, Pugliese F, Salcuni AS, Scillitani A, Guarnieri V.

Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):891-908. doi: 10.1016/j.beem.2018.11.001. Epub 2018 Nov 20. Review.

PMID:
30477753
9.

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.

BMC Pediatr. 2018 Oct 30;18(1):340. doi: 10.1186/s12887-018-1319-0. Erratum in: BMC Pediatr. 2019 Nov 27;19(1):463.

10.

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.

Hum Mutat. 2018 Dec;39(12):1885-1900. doi: 10.1002/humu.23629. Epub 2018 Sep 24.

PMID:
30161288
11.

Clinical Relevance of Joint Hypermobility and Its Impact on Musculoskeletal Pain and Bone Mass.

Guarnieri V, Castori M.

Curr Osteoporos Rep. 2018 Aug;16(4):333-343. doi: 10.1007/s11914-018-0460-x. Review.

PMID:
29915965
12.

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.

Oncotarget. 2018 Apr 17;9(29):20721-20733. doi: 10.18632/oncotarget.25067. eCollection 2018 Apr 17.

13.

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.

Endocr Relat Cancer. 2018 Jul;25(7):761-771. doi: 10.1530/ERC-17-0204. Epub 2018 May 3.

PMID:
29724878
14.

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

Cinque L, Sparaneo A, Salcuni AS, de Martino D, Battista C, Logoluso F, Palumbo O, Cocchi R, Maiello E, Graziano P, Hendy GN, Cole DEC, Scillitani A, Guarnieri V.

Endocr Connect. 2017 Nov;6(8):886-891. doi: 10.1530/EC-17-0207. Epub 2017 Nov 2.

15.

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.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3961-3969. doi: 10.1210/jc.2017-00250.

PMID:
28938448
16.

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.

Lab Invest. 2017 Dec;97(12):1488-1499. doi: 10.1038/labinvest.2017.88. Epub 2017 Sep 18.

17.

Erratum to: 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.

BMC Med Genet. 2017 Sep 13;18(1):99. doi: 10.1186/s12881-017-0459-7. No abstract available.

18.

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.

Eur J Endocrinol. 2017 Nov;177(5):431-437. doi: 10.1530/EJE-17-0417. Epub 2017 Aug 8.

19.

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.

BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0. Erratum in: BMC Med Genet. 2017 Sep 13;18(1):99.

20.

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.

Oncol Lett. 2017 Jul;14(1):23-30. doi: 10.3892/ol.2017.6162. Epub 2017 May 12.

21.

Alterations of DNA methylation in parathyroid tumors.

Guarnieri V, Muscarella LA, Verdelli C, Corbetta S.

Mol Cell Endocrinol. 2018 Jul 5;469:60-69. doi: 10.1016/j.mce.2017.05.010. Epub 2017 May 10. Review.

PMID:
28501573
22.

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.

J Mol Endocrinol. 2017 Feb;58(2):91-103. doi: 10.1530/JME-16-0184. Epub 2016 Nov 21.

23.

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.

Endocrine. 2016 Oct;54(1):55-59. Epub 2016 Feb 15.

PMID:
26876532
24.

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.

Endocrine. 2017 Jan;55(1):266-272. doi: 10.1007/s12020-016-0974-x. Epub 2016 May 6.

PMID:
27154872
25.

A Single-Chip CMOS Pulse Oximeter with On-Chip Lock-In Detection.

He D, Morgan SP, Trachanis D, van Hese J, Drogoudis D, Fummi F, Stefanni F, Guarnieri V, Hayes-Gill BR.

Sensors (Basel). 2015 Jul 14;15(7):17076-88. doi: 10.3390/s150717076.

26.

Primary hyperparathyroidism and Klinefelter's syndrome in a young man.

Castellano E, Pellegrino M, Attanasio R, Guarnieri V, Maffè A, Borretta G.

Endocrinol Diabetes Metab Case Rep. 2015;2015:150019. doi: 10.1530/EDM-15-0019. Epub 2015 Apr 1.

27.

Tumour-associated fibroblasts contribute to neoangiogenesis in human parathyroid neoplasia.

Verdelli C, Avagliano L, Creo P, Guarnieri V, Scillitani A, Vicentini L, Steffano GB, Beretta E, Soldati L, Costa E, Spada A, Bulfamante GP, Corbetta S.

Endocr Relat Cancer. 2015 Feb;22(1):87-98. doi: 10.1530/ERC-14-0161. Epub 2014 Dec 16.

PMID:
25515730
28.

Platinum metallization for MEMS application. Focus on coating adhesion for biomedical applications.

Guarnieri V, Biazi L, Marchiori R, Lago A.

Biomatter. 2014;4:e28822. doi: 10.4161/biom.28822.

PMID:
25482415
29.

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.

BMC Endocr Disord. 2014 Oct 7;14:81. doi: 10.1186/1472-6823-14-81.

30.

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.

J Clin Endocrinol Metab. 2014 Dec;99(12):E2794-8. doi: 10.1210/jc.2014-2857.

PMID:
25279501
31.

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.

Cell Oncol (Dordr). 2014 Aug;37(4):281-8. doi: 10.1007/s13402-014-0187-3. Epub 2014 Aug 12.

PMID:
25113791
32.

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.

Nephrol Dial Transplant. 2014 Oct;29(10):1902-9. doi: 10.1093/ndt/gfu065. Epub 2014 Aug 7.

PMID:
25104082
33.

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.

Eur J Endocrinol. 2014 Sep;171(3):399-406. doi: 10.1530/EJE-14-0343. Epub 2014 Jun 25.

PMID:
24966175
34.

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.

J Nephrol. 2015 Feb;28(1):67-72. doi: 10.1007/s40620-014-0106-8. Epub 2014 May 16.

PMID:
24832896
35.

Platinum metallization for MEMS application: focus on coating adhesion for biomedical applications.

Guarnieri V, Biazi L, Marchiori R, Lago A.

Biomatter. 2014;4. pii: e28822.

36.

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, Guarnieri V.

PLoS One. 2013 Dec 5;8(12):e82292. doi: 10.1371/journal.pone.0082292. eCollection 2013.

37.

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.

FEBS Lett. 2013 May 2;587(9):1424-8. doi: 10.1016/j.febslet.2013.03.021. Epub 2013 Mar 21.

38.

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.

Gene. 2013 Feb 25;515(2):339-48. doi: 10.1016/j.gene.2012.11.055. Epub 2012 Dec 20.

PMID:
23262345
39.

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, Cole DE, Scillitani A.

Cell Oncol (Dordr). 2012 Dec;35(6):411-22. doi: 10.1007/s13402-012-0100-x. Epub 2012 Sep 18.

PMID:
22987117
40.

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.

Mol Genet Metab. 2012 Nov;107(3):548-52. doi: 10.1016/j.ymgme.2012.06.012. Epub 2012 Jun 26.

PMID:
22789683
41.

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.

J Mol Endocrinol. 2012 Jul 26;49(2):115-24. Print 2012 Oct.

PMID:
22767050
42.

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.

J Bone Miner Res. 2012 Oct;27(10):2217-22. doi: 10.1002/jbmr.1660.

43.

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.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):40-4. Review.

PMID:
21985979
44.

Carboxyl-terminal parathyroid hormone fragments: biologic effects.

Scillitani A, Guarnieri V, Battista C, Chiodini I, Salcuni AS, Minisola S, Francucci CM, Carnevale V.

J Endocrinol Invest. 2011 Jul;34(7 Suppl):23-6. Review.

PMID:
21985976
45.

A rare S33C mutation of CTNNB1 encoding β-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.

Endocrine. 2012 Feb;41(1):152-5. doi: 10.1007/s12020-011-9558-y. Epub 2011 Nov 18. No abstract available.

PMID:
22095489
46.

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.

Endocrine. 2011 Dec;40(3):481-5. doi: 10.1007/s12020-011-9501-2. Epub 2011 Jun 17.

PMID:
21678021
47.

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.

Epigenetics. 2011 Jun;6(6):710-9. Epub 2011 Jun 1.

PMID:
21610322
48.

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.

Eur J Endocrinol. 2011 Mar;164(3):421-7. doi: 10.1530/EJE-10-0915. Epub 2010 Dec 23.

PMID:
21183554
49.

Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCR.

Muscarella LA, Guarnieri V, Coco M, Belli S, Parrella P, Pulcrano G, Catapano D, D'Angelo VA, Zelante L, D'Agruma L.

J Biomed Biotechnol. 2010;2010. pii: 854737. doi: 10.1155/2010/854737. Epub 2010 Jul 27.

50.

Candidate gene study of HOXB1 in autism spectrum disorder.

Muscarella LA, Guarnieri V, Sacco R, Curatolo P, Manzi B, Alessandrelli R, Giana G, Militerni R, Bravaccio C, Lenti C, Saccani M, Schneider C, Melmed R, D'Agruma L, Persico AM.

Mol Autism. 2010 May 25;1(1):9. doi: 10.1186/2040-2392-1-9.

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