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Trump D, Farren B, Wooding C, Pang JT, Besser GM, et al. (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1). <i>QJM<\/i> 89:653-669.","DOI":"10.1093\/qjmed\/89.9.653"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3. Marx S, Spiegel AM, Skarulis MC, Doppman JL, Collins FS, et al. (1998) Multiple endocrine neoplasia type 1: clinical and genetic topics. <i>Ann Intern Med<\/i> 129:484-494.","DOI":"10.7326\/0003-4819-129-6-199809150-00011"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1126\/science.276.5311.404"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20605"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Agarwal SK, Lee Burns A, Sukhodolets KE, Kennedy PA, Obungu VH, et al. (2004) Molecular pathology of the MEN1 gene. <i>Ann N Y Acad Sci<\/i> 1014:189-198.","DOI":"10.1196\/annals.1294.020"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-09-0678"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Hendy GN, Kaji H, Canaff L (2009) Cellular functions of menin. <i>Adv Exp Med Biol<\/i> 668:37-50.","DOI":"10.1007\/978-1-4419-1664-8_4"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2008.01034.x"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1016\/j.mce.2010.04.011"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Sakurai A, Katai M, Itakura Y, Nakajima K, Baba K, et al. (1996) Genetic screening in hereditary multiple endocrine neoplasia type 1: absence of a founder effect among Japanese families. <i>Jpn J Cancer Res<\/i> 87:985-994.","DOI":"10.1111\/j.1349-7006.1996.tb02130.x"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.1.165"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Villablanca A, Wassif WS, Smith T, Hoog A, Vierimaa O, et al. (2002) Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism. <i>Eur J Endocrinol<\/i> 147:313-322.","DOI":"10.1530\/eje.0.1470313"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Roberts PS, Ramesh V, Dabora S, Kwiatkowski DJ (2003) A 34 bp deletion within TSC2 is a rare polymorphism, not a pathogenic mutation. <i>Ann Hum Genet<\/i> 67:495-503.","DOI":"10.1046\/j.1529-8817.2003.00059.x"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Dong Q, Debelenko LV, Chandrasekharappa SC, Emmert-Buck MR, Zhuang Z, et al. (1997) Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1. <i>J Clin Endocrinol Metab<\/i> 82:1416-1420.","DOI":"10.1210\/jcem.82.5.3944"},{"key":"16","unstructured":"16. Debelenko LV, Zhuang Z, Emmert-Buck MR, Chandrasekharappa SC, Manickam P, et al. (1997) Allelic deletions on chromosome 11q13 in multiple endocrine neoplasia type 1-associated and sporadic gastrinomas and pancreatic endocrine tumors. <i>Cancer Res<\/i> 57:2238-2243."},{"key":"17","unstructured":"17. Pannett AA, Thakker RV (2001) Somatic mutations in MEN type 1 tumors, consistent with the Knudson &ldquo;two-hit&rdquo; hypothesis. <i>J Clin Endocrinol Metab<\/i> 86:4371-4374."},{"key":"18","doi-asserted-by":"publisher","DOI":"10.1210\/jc.86.12.5658"},{"key":"19","doi-asserted-by":"publisher","DOI":"10.1507\/endocrj.K08E-265"},{"key":"20","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.24.15.6569-6580.2004"},{"key":"21","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2011.02055.x"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Kishi M, Tsukada T, Shimizu S, Hosono K, Ohkubo T, et al. (1999) A novel splicing mutation (894-9 G-&gt;A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1. <i>Cancer Lett<\/i> 142:105-110.","DOI":"10.1016\/S0304-3835(99)00156-1"},{"key":"23","doi-asserted-by":"crossref","unstructured":"23. Hartmann L, Theiss S, Niederacher D, Schaal H (2008) Diagnostics of pathogenic splicing mutations: does bioinformatics cover all bases? <i>Front Biosci<\/i> 13:3252-3272.","DOI":"10.2741\/2924"},{"key":"24","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2011.04227.x"},{"key":"25","doi-asserted-by":"crossref","unstructured":"25. Namihira H, Sato M, Murao K, Cao WM, Matsubara S, et al. (2002) The multiple endocrine neoplasia type 1 gene product, menin, inhibits the human prolactin promoter activity. <i>J Mol Endocrinol<\/i> 29:297-304.","DOI":"10.1677\/jme.0.0290297"},{"key":"26","doi-asserted-by":"publisher","DOI":"10.1210\/me.2003-0470"},{"key":"27","doi-asserted-by":"crossref","unstructured":"27. Sowa H, Kaji H, Kitazawa R, Kitazawa S, Tsukamoto T, et al. 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