{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T02:34:05Z","timestamp":1648780445806},"reference-count":23,"publisher":"Japan Endocrine Society","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Endocr J"],"published-print":{"date-parts":[[2016]]},"DOI":"10.1507\/endocrj.ej15-0399","type":"journal-article","created":{"date-parts":[[2015,10,23]],"date-time":"2015-10-23T22:55:01Z","timestamp":1445640901000},"page":"87-91","source":"Crossref","is-referenced-by-count":1,"title":["A novel RET gene mutation in a patient with apparently sporadic pheochromocytoma"],"prefix":"10.1507","volume":"63","author":[{"given":"Claudia","family":"Scollo","sequence":"first","affiliation":[{"name":"Endocrinology, Garibaldi Nesima Hospital, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Russo","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Messina, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"De Gregorio","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosa","family":"Terranova","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erika","family":"Mangione","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlotta","family":"Castoro","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastiano","family":"Squatrito","sequence":"additional","affiliation":[{"name":"Endocrinology, Department of Clinical and Experimental Medicine, University of Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriella","family":"Pellegriti","sequence":"additional","affiliation":[{"name":"Endocrinology, Garibaldi Nesima Hospital, Catania, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"386","reference":[{"key":"1","unstructured":"1. De Lellis RA, Lloyd RV, Heitz PU &amp; Eng C eds (2004) Pathology and Genetics of Tumours of Endocrine Organs. World Health Organization Classification of Tumours. IARC Press, Lyon."},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Jafri M, Maher ER (2012) The genetics of phaeochromocytoma: using clinical features to guide genetic testing. <i>Eur J Endocrinol<\/i> 166:151-158.","DOI":"10.1530\/EJE-11-0497"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Bravo EL (1994) Evolving concepts in the pathophysiology, diagnosis, and treatment of pheochromocytoma. <i>Endocr Rev<\/i> 15:356-368.","DOI":"10.1210\/edrv-15-3-356"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Pacak K, Eisenhofer G, Ahlman H, Bornstein SR, Gimenez-Roqueplo AP, et al. (2007) Pheochromocytoma: recommendations for clinical practice from the First International Symposium. October 2005.<i> Nat Clin Pract Endocrinol Metab<\/i> 3:92-102.","DOI":"10.1038\/ncpendmet0396"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Mulligan LM, Kwok JB, Healey CS, Elsdon MJ, Eng C, et al. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. <i>Nature <\/i>363:458-460.","DOI":"10.1038\/363458a0"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, et al. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. <i>J Clin Endocrinol Metab<\/i> 86:5658-5671.","DOI":"10.1210\/jcem.86.12.8070"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Romei C, Pardi E, Cetani F, Elisei R (2012) Genetic and clinical features of multiple endocrine neoplasia types 1 and 2.<i> J Oncol<\/i> 2012:705036.","DOI":"10.1155\/2012\/705036"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Raue F, Frank-Raue K (2012) Genotype-phenotype correlation in multiple endocrine neoplasia type 2. <i>Clinics (Sao Paulo)<\/i> 67 Suppl 1:69-75.","DOI":"10.6061\/clinics\/2012(Sup01)13"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Imai T, Uchino S, Okamoto T, Suzuki S, Kosugi S, et al. (2013) High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients. <i>Eur J Endocrinol<\/i> 168:683-687.","DOI":"10.1530\/EJE-12-1106"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Heshmati HM, Hofbauer LC (1997) Multiple endocrine neoplasia type 2: recent progress in diagnosis and management. <i>Eur J Endocrinol<\/i> 137:572-578.","DOI":"10.1530\/eje.0.1370572"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Moline J, Eng C (2011) Multiple endocrine neoplasia type 2: an overview. <i>Genet Med<\/i> 13:755-764.","DOI":"10.1097\/GIM.0b013e318216cc6d"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, et al. (2005) Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. <i>J Clin Endocrinol Metab<\/i> 90:3999-4003","DOI":"10.1210\/jc.2005-0064"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Machens A, Brauckhoff M, Gimm O, Dralle H (2006) Risk-oriented approach to hereditary adrenal pheochromocytoma. <i>Ann N Y Acad Sci<\/i> 1073:417-428.","DOI":"10.1196\/annals.1353.045"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Gimenez-Roqueplo AP, Lehnert H, Mannelli M, Neumann H, Opocher G, et al. (2006) Phaeochromocytoma, new genes and screening strategies. <i>Clin Endocrinol (Oxf)<\/i> 65:699-705.","DOI":"10.1111\/j.1365-2265.2006.02714.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Neumann HP, Bausch B, McWhinney SR, Bender BU, Gimm O, et al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. <i>N Engl J Med<\/i> 346:1459-1466.","DOI":"10.1056\/NEJMoa020152"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Bryant J, Farmer J, Kessler LJ, Townsend RR, Nathanson KL (2003) Pheochromocytoma: the expanding genetic differential diagnosis. <i>J Natl Cancer Inst <\/i>95:1196-1204.","DOI":"10.1093\/jnci\/djg024"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, et al. (2013) The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2. <i>J Clin Endocrinol Metab<\/i> 98:E1813-1819.","DOI":"10.1210\/jc.2013-1653"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, Francis GL, et al. (2009) Medullary thyroid cancer: management guidelines of the American Thyroid Association. <i>Thyroid<\/i> 19:565-612.","DOI":"10.1089\/thy.2008.0403"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Wells SA Jr, Asa SL, Dralle H, Elisei R, Evans DB, et al. (2015) Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. <i>Thyroid<\/i> 25:567-610.","DOI":"10.1089\/thy.2014.0335"},{"key":"20","unstructured":"20. Han ZY, Qiu CG, Chen QH, Zhu Y, Zhu DL (2006) Mutation screening of RET proto-oncogene in Chinese sporadic patients with pheochromocytoma. <i>Zhonghua Yi Xue Yi Chuan Xue Za Zhi<\/i> 23:320-322 (in Chinese)."},{"key":"21","unstructured":"21. Frank-Raue K, Rondot S, Schulze E, Raue F (2007) Change in the spectrum of RET mutations diagnosed between 1994 and 2006. <i>Clin Lab<\/i> 53:273-282."},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Khorram-Manesh A, Ahlman H, Nilsson O, Od&eacute;n A, Jansson S (2004) Mortality associated with pheochromocytoma in a large Swedish cohort. <i>Eur J Surg Oncol <\/i> 30:556-559.","DOI":"10.1016\/j.ejso.2004.03.006"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Miller DD, Emley A, Yang S, Richards JE, Lee JE, et al. (2012) Mixed versus pure variants of desmoplastic melanoma: a genetic and immunohistochemical appraisal. <i>Mod Pathol<\/i> 25:505-515.","DOI":"10.1038\/modpathol.2011.196"}],"container-title":["Endocrine Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/63\/1\/63_EJ15-0399\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,8,31]],"date-time":"2019-08-31T21:48:32Z","timestamp":1567288112000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/endocrj\/63\/1\/63_EJ15-0399\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016]]}},"URL":"https:\/\/doi.org\/10.1507\/endocrj.ej15-0399","relation":{},"ISSN":["0918-8959","1348-4540"],"issn-type":[{"value":"0918-8959","type":"print"},{"value":"1348-4540","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016]]}}}