{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T21:41:19Z","timestamp":1783633279040,"version":"3.55.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2009,5,28]],"date-time":"2009-05-28T00:00:00Z","timestamp":1243468800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"published-print":{"date-parts":[[2009,12]]},"DOI":"10.1007\/s10689-009-9250-z","type":"journal-article","created":{"date-parts":[[2009,5,27]],"date-time":"2009-05-27T08:32:32Z","timestamp":1243413152000},"page":"379-382","source":"Crossref","is-referenced-by-count":14,"title":["Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation"],"prefix":"10.1007","volume":"8","author":[{"given":"Caterina","family":"Mian","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susi","family":"Barollo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Zambonin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianmaria","family":"Pennelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Bernante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Rosa","family":"Pelizzo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Nacamulli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franco","family":"Mantero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Elisa","family":"Girelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Opocher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,5,28]]},"reference":[{"key":"9250_CR1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/00005792-196809000-00001","volume":"47","author":"AL Steiner","year":"1968","unstructured":"Steiner AL, Goodman AD, Powers SR (1968) Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing\u2019s disease: multiple endocrine neoplasia, type 2. Medicine (Baltimore) 47:371\u2013409. doi: 10.1097\/00005792-196809000-00001","journal-title":"Medicine (Baltimore)"},{"key":"9250_CR2","doi-asserted-by":"crossref","first-page":"561","DOI":"10.7326\/0003-4819-78-4-561","volume":"78","author":"HR Keiser","year":"1973","unstructured":"Keiser HR, Beaven MA, Doppman J, Wells S Jr, Buja LM (1973) Sipple\u2019s syndrome: medullary thyroid carcinoma, pheochromocytoma, and parathyroid disease. Studies in a large family. NIH conference. Ann Intern Med 78:561\u2013579","journal-title":"Ann Intern Med"},{"key":"9250_CR3","doi-asserted-by":"crossref","first-page":"5658","DOI":"10.1210\/jcem.86.12.8070","volume":"86","author":"ML Brandi","year":"2001","unstructured":"Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658\u20135671. doi: 10.1210\/jc.86.12.5658","journal-title":"J Clin Endocrinol Metab"},{"key":"9250_CR4","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1111\/j.1365-2265.2007.03153.x","volume":"69","author":"A Machens","year":"2008","unstructured":"Machens A, Dralle H (2008) Familial prevalence and age of RET germline mutations: implications for screening. Clin Endocrinol 69:81\u201387","journal-title":"Clin Endocrinol"},{"key":"9250_CR5","doi-asserted-by":"crossref","first-page":"417","DOI":"10.1007\/s00508-006-0635-9","volume":"118","author":"A Patocs","year":"2006","unstructured":"Patocs A, Klein I, Szilvasi A, Gergics P, Toth M, Valkusz Z, Forizs E, Igaz P, Al-Farhat Y, Tordai A, Varadi A, Racz K, Esik O (2006) Genotype\u2013phenotype correlations in Hungarian patients with hereditary medullarythyroid cancer. Wien Klin Wochenschr 118:417\u2013421. doi: 10.1007\/s00508-006-0635-9","journal-title":"Wien Klin Wochenschr"},{"key":"9250_CR6","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1007\/s00383-006-1785-6","volume":"22","author":"R Sk\u00e1ba","year":"2006","unstructured":"Sk\u00e1ba R, Dvor\u00e1kov\u00e1 S, V\u00e1clav\u00edkov\u00e1 E, Vlcek P, Frantlov\u00e1 M, Bendlov\u00e1 B (2006) The risk of medullary thyroid carcinoma in patients with Hirschsprung\u2019s disease. Pediatr Surg Int 22:991\u2013995. doi: 10.1007\/s00383-006-1785-6","journal-title":"Pediatr Surg Int"},{"key":"9250_CR7","first-page":"676","volume":"63","author":"WB Kinlaw","year":"2005","unstructured":"Kinlaw WB, Scott SM, Maue RA, Memoli VA, Harris RD, Daniels GH, Porter DM, Belloni DR, Spooner ET, Ernesti MM, Noll WW (2005) Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. Horumon To Rinsho 63:676\u2013682","journal-title":"Horumon To Rinsho"},{"key":"9250_CR8","doi-asserted-by":"crossref","first-page":"897","DOI":"10.1053\/jpsu.2002.32906","volume":"37","author":"S Simon","year":"2002","unstructured":"Simon S, Pavel M, Hensen J, Berg J, H\u00fcmmer HP, Carbon R (2002) Multiple endocrine neoplasia 2A syndrome: surgical management. J Pediatr Surg 37:897\u2013900. doi: 10.1053\/jpsu.2002.32906","journal-title":"J Pediatr Surg"},{"key":"9250_CR9","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1111\/j.1365-2796.2004.01423.x","volume":"257","author":"A Machens","year":"2005","unstructured":"Machens A, Ukkat J, Brauckhoff M, Gimm O, Dralle H (2005) Advances in the management of hereditary medullary thyroid cancer. J Intern Med 257:50\u201359. doi: 10.1111\/j.1365-2796.2004.01423.x","journal-title":"J Intern Med"},{"key":"9250_CR10","doi-asserted-by":"crossref","first-page":"3919","DOI":"10.1038\/sj.onc.1202742","volume":"18","author":"T Iwashita","year":"1999","unstructured":"Iwashita T, Kato M, Murakami H, Asai N, Ishiguro Y, Ito S, Iwata Y, Kawai K, Asai M, Kurokawa K, Kajita H, Takahashi M (1999) Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma. Oncogene 18:3919\u20133922. doi: 10.1038\/sj.onc.1202742","journal-title":"Oncogene"},{"issue":"Suppl","key":"9250_CR11","doi-asserted-by":"crossref","first-page":"S167","DOI":"10.1002\/humu.1380110156","volume":"1","author":"O Fattoruso","year":"1998","unstructured":"Fattoruso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, Colantuoni VA (1998) GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. Hum Mutat 1(Suppl):S167\u2013S171","journal-title":"Hum Mutat"}],"container-title":["Familial Cancer"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9250-z.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s10689-009-9250-z\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s10689-009-9250-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T21:45:59Z","timestamp":1559252759000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s10689-009-9250-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,5,28]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["9250"],"URL":"https:\/\/doi.org\/10.1007\/s10689-009-9250-z","relation":{},"ISSN":["1389-9600","1573-7292"],"issn-type":[{"value":"1389-9600","type":"print"},{"value":"1573-7292","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,5,28]]}}}