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Eng, C., Clayton, D., Schuffenecker, I., Lenoir, G., Cote, G., Gagel, R.F., Ploos Van Amstel, H.K., Mulligan, L.M., The relationship between specific ret proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET mutation consortium analysis (1996) Journal of the American Medical Association, 276 (19), pp. 1575-1579., DOI: 10.1001/jama.276.19.1575", "listPosition" : 1, "doi" : "10.1001/jama.276.19.1575", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542471, "link" : "/api/reference/7542471", "label" : "2. Eng, C., Mulligan, L.M., Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease (1997) Human Mutation, 9 (2), pp. 97-109., DOI: 10.1002/(SICI)1098-1004(1997)9:2<97::AID-HUMU1>3.0.CO;2-M", "listPosition" : 2, "doi" : "10.1002/(SICI)1098-1004(1997)9:2<97::AID-HUMU1>3.0.CO;2-M", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542472, "link" : "/api/reference/7542472", "label" : "3. Mulligan, L.M., Kwok, J.B., Healey, C.S., Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (1993) Nature, 363, pp. 458-460", "listPosition" : 3, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542473, "link" : "/api/reference/7542473", "label" : "4. Takahashi, M., Cooper, G.M., ret Transforming gene encodes a fusion protein homologous to tyrosine kinases (1987) Molecular and Cellular Biology, 7 (4), pp. 1378-1385", "listPosition" : 4, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542474, "link" : "/api/reference/7542474", "label" : "5. Alvares Da Silva, A.M., Maciel, R.M.B., Dias Da Silva, M.R., Toledo, S.R.C., De Carvalho, M.B., Cerutti, J.M., A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma (2003) Journal of Clinical Endocrinology and Metabolism, 88 (11), pp. 5438-5443., DOI: 10.1210/jc.2003-030997", "listPosition" : 5, "doi" : "10.1210/jc.2003-030997", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542475, "link" : "/api/reference/7542475", "label" : "6. Mulligan, L.M., Eng, C., Healey, C.S., Clayton, D., Kwok, J.B.J., Gardner, E., Ponder, M.A., Ponder, B.A.J., Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC (1994) Nature Genetics, 6 (1), pp. 70-74., DOI: 10.1038/ng0194-70", "listPosition" : 6, "doi" : "10.1038/ng0194-70", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542476, "link" : "/api/reference/7542476", "label" : "7. Boccia, L.M., Green, J.S., Joyce, C., Eng, C., Taylor, S.A.M., Mulligan, L.M., Mutation of RET codon 768 is associated with the FMTC phenotype (1997) Clinical Genetics, 51 (2), pp. 81-85", "listPosition" : 7, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542477, "link" : "/api/reference/7542477", "label" : "8. Bolino, A., Schuffenecker, I., Luo, Y., Al, E., RET mutations in exons 13 and 14 of FMTC patients (1995) Oncogene, 10, pp. 2415-2419", "listPosition" : 8, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542478, "link" : "/api/reference/7542478", "label" : "9. Kaldrymides, P., Mytakidis, N., Anagnostopoulos, T., A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: Implications for screening (2006) Clinical Endocrinology, 64, pp. 561-566", "listPosition" : 9, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542479, "link" : "/api/reference/7542479", "label" : "10. De Groot, J.W.B., Links, T.P., Plukker, J.T.M., Lips, C.J.M., Hofstra, R.M.W., RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors (2006) Endocrine Reviews, 27 (5), pp. 535-560. , http://edrv.endojournals.org/cgi/reprint/27/5/535.pdf, DOI: 10.1210/er.2006-0017", "listPosition" : 10, "doi" : "10.1210/er.2006-0017", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542480, "link" : "/api/reference/7542480", "label" : "11. Carlson, K.M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C.E., Wells Jr., S.A., Donis-Keller, H., Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B (1994) Proceedings of the National Academy of Sciences of the United States of America, 91 (4), pp. 1579-1583", "listPosition" : 11, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542481, "link" : "/api/reference/7542481", "label" : "12. Gimm, O., Marsh, D.J., Andrew, S.D., Frilling, A., Dahia, P.L.M., Mulligan, L.M., Zajac, J.D., Eng, C., Germline dinucleotide mutation in codon 883 of the RET proto-oncogene in multiple endocrine neoplasia type 2B without codon 918 mutation (1997) Journal of Clinical Endocrinology and Metabolism, 82 (11), pp. 3902-3904", "listPosition" : 12, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542482, "link" : "/api/reference/7542482", "label" : "13. Kouvaraki, M.A., Shapiro, S.E., Perrier, N.D., Cote, G.J., Gagel, R.F., Hoff, A.O., Sherman, S.I., Evans, D.B., RET proto-oncogene: A review and update of genotype-phenotype correlations in hereditary medullary thyroid cancer and associated endocrine tumors (2005) Thyroid, 15 (6), pp. 531-544., DOI: 10.1089/thy.2005.15.531", "listPosition" : 13, "doi" : "10.1089/thy.2005.15.531", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542483, "link" : "/api/reference/7542483", "label" : "14. Lesueur, F., Cebrian, A., Robledo, M., Niccoli-Sire, P., Svensson, K.-A., Pinson, S., Leyland, J., Ponder, B.A.J., Polymorphisms in RET and its coreceptors and ligands as genetic modifiers of multiple endocrine neoplasia type 2A (2006) Cancer Research, 66 (2), pp. 1177-1180., DOI: 10.1158/0008-5472.CAN-05-2995", "listPosition" : 14, "doi" : "10.1158/0008-5472.CAN-05-2995", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542484, "link" : "/api/reference/7542484", "label" : "15. Brandi, M.L., Gagel, R.F., Angeli, A., Bilezikian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Marx, S.J., Consensus: Guidelines for diagnosis and therapy of MEN type 1 and type 2 (2001) Journal of Clinical Endocrinology and Metabolism, 86 (12), pp. 5658-5671., DOI: 10.1210/jc.86.12.5658", "listPosition" : 15, "doi" : "10.1210/jc.86.12.5658", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542485, "link" : "/api/reference/7542485", "label" : "16. Bethanis, S., Koutsodontis, G., Palouka, T., A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A (2007) Hormones (Athens), 6, pp. 152-156", "listPosition" : 16, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542486, "link" : "/api/reference/7542486", "label" : "17. Robledo, M., Gil, L., Pollan, M., Cebrian, A., Ruiz, S., Azanedo, M., Benitez, J., Rojas, J.M., Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A (2003) Cancer Research, 63 (8), pp. 1814-1817", "listPosition" : 17, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542487, "link" : "/api/reference/7542487", "label" : "18. Patocs, A., Valkusz, Z., Igaz, P., Balogh, K., Toth, M., Varga, I., Racz, K., Segregation of the V804L mutation and S836S polymorphism of exon 14 of the RET gene in an extended kindred with familial medullary thyroid cancer (2003) Clinical Genetics, 63 (3), pp. 219-223., DOI: 10.1034/j.1399-0004.2003.00044.x", "listPosition" : 18, "doi" : "10.1034/j.1399-0004.2003.00044.x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542488, "link" : "/api/reference/7542488", "label" : "19. Baumgartner-Parzer, S.M., Lang, R., Wagner, L., Heinze, G., Niederle, B., Kaserer, K., Waldhaasl, W., Vierhapper, H., Polymorphisms in exon 13 and intron 14 of the RET protooncogene: Genetic modifiers of medullary thyroid carcinoma (2005) Journal of Clinical Endocrinology and Metabolism, 90 (11), pp. 6232-6236. , http://jcem.endojournals.org/cgi/reprint/90/11/6232, DOI: 10.1210/jc.2005-1278", "listPosition" : 19, "doi" : "10.1210/jc.2005-1278", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542489, "link" : "/api/reference/7542489", "label" : "20. McWhinney, S.R., Boru, G., Binkley, P.K., Peczkowska, M., Januszewicz, A.A., Neumann, H.P.H., Eng, C., Intronic Single Nucleotide Polymorphisms in the RET Protooncogene Are Associated with a Subset of Apparently Sporadic Pheochromocytoma and May Modulate Age of Onset (2003) Journal of Clinical Endocrinology and Metabolism, 88 (10), pp. 4911-4916., DOI: 10.1210/jc.2003-030245", "listPosition" : 20, "doi" : "10.1210/jc.2003-030245", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542490, "link" : "/api/reference/7542490", "label" : "21. Elisei, R., Cosci, B., Romei, C., Bottici, V., Sculli, M., Lari, R., Barale, R., Pinchera, A., RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population (2004) Journal of Clinical Endocrinology and Metabolism, 89 (7), pp. 3579-3584., DOI: 10.1210/jc.2003-031898", "listPosition" : 21, "doi" : "10.1210/jc.2003-031898", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542491, "link" : "/api/reference/7542491", "label" : "22. Borrego, S., Saez, M.E., Ruiz, A., Gimm, O., Lopez-Alonso, M., Antinolo, G., Eng, C., Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression (1999) Journal of Medical Genetics, 36 (10), pp. 771-774", "listPosition" : 22, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542492, "link" : "/api/reference/7542492", "label" : "23. Borrego, S., Wright, F.A., Fernandez, R.M., Williams, N., Lopez-Alonso, M., Davuluri, R., Antinolo, G., Eng, C., A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma (2003) American Journal of Human Genetics, 72 (1), pp. 88-100., DOI: 10.1086/345466", "listPosition" : 23, "doi" : "10.1086/345466", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542493, "link" : "/api/reference/7542493", "label" : "24. Fernandez, R.M., Robledo, M., Antinolo, G., Pecina, A., Ruiz-Llorente, S., Eng, C., Borrego, S., The RET IVS1-126G>T Variant Is Strongly Associated with the Development of Sporadic Medullary Thyroid Cancer [2] (2004) Thyroid, 14 (4), pp. 329-331., DOI: 10.1089/105072504323031022", "listPosition" : 24, "doi" : "10.1089/105072504323031022", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542494, "link" : "/api/reference/7542494", "label" : "25. Gil, L., Azanedo, M., Pollan, M., Cristobal, E., Arribas, B., Garcia-Albert, L., Garcia-Saiz, A., Rojas, J.M., Genetic analysis of RET, GFrα1 and GDNF genes in Spanish families with multiple endocrine neoplasia type 2A (2002) International Journal of Cancer, 99 (2), pp. 299-304., DOI: 10.1002/ijc.10298", "listPosition" : 25, "doi" : "10.1002/ijc.10298", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542495, "link" : "/api/reference/7542495", "label" : "26. Tamanaha, R., Camacho, C.P., Ikejiri, E.S., Maciel, R.M.B., Cerutti, J.M., Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: Evaluation of phenotype-modifying effect of germline variants [2] (2007) Clinical Endocrinology, 67 (5), pp. 806-808., DOI: 10.1111/j.1365-2265.2007.02964.x", "listPosition" : 26, "doi" : "10.1111/j.1365-2265.2007.02964.x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542496, "link" : "/api/reference/7542496", "label" : "27. Magalhaes, P.K.R., De Castro, M., Elias, L.L.K., Soares, E.G., Maciel, L.M.Z., Polymorphisms in the RET proto-oncogene and the phenotypic presentation of familial medullary thyroid carcinoma (2004) Thyroid, 14 (10), pp. 848-852., DOI: 10.1089/thy.2004.14.848", "listPosition" : 27, "doi" : "10.1089/thy.2004.14.848", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542497, "link" : "/api/reference/7542497", "label" : "28. Da Rocha, A.P., Magalhaes, P.K., Maia, A.L., Genetic polymorphisms: Implications in the pathogenesis of medullary thyroid carcinoma (2007) Arquivos Brasileirso de Endocrinologia and Metabologia, 51, pp. 723-730", "listPosition" : 28, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542498, "link" : "/api/reference/7542498", "label" : "29. Fugazzola, L., Muzza, M., Mian, C., RET genotypes in sporadic medullary thyroid cancer: Studies in a large Italian series (2008) Clinical Endocrinology, 69, pp. 418-425", "listPosition" : 29, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542499, "link" : "/api/reference/7542499", "label" : "30. Pereira, A.C., Sposito, A.C., Mota, G.F., Cunha, R.S., Herkenhoff, F.L., Mill, J.G., Krieger, J.E., Endothelial nitric oxide synthase gene variant modulates the relationship between serum cholesterol levels and blood pressure in the general population: New evidence for a direct effect of lipids in arterial blood pressure (2006) Atherosclerosis, 184 (1), pp. 193-200. , PII S0021915005002613, DOI: 10.1016/j.atherosclerosis.2005.03.035,", "listPosition" : 30, "doi" : "10.1016/j.atherosclerosis.2005.03.035,", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542500, "link" : "/api/reference/7542500", "label" : "31. Gimm, O., Neuberg, D.S., Marsh, D.J., Dahia, P.L.M., Hoang-Vu, C., Raue, F., Hinze, R., Eng, C., Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation (1999) Oncogene, 18 (6), pp. 1369-1373", "listPosition" : 31, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542501, "link" : "/api/reference/7542501", "label" : "32. Severskaia, N.V., Saenko, V.A., Il'In, A.A., RET and GFRA1 germline polymorphisms in medullary thyroid cancer patients (2006) Molecular Biology (Mosk), 40, pp. 425-435", "listPosition" : 32, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542502, "link" : "/api/reference/7542502", "label" : "33. Wiench, M., Wloch, J., Wygoda, Z., Gubala, E., Oczko, M., Pawlaczek, A., Kula, D., Jarzab, B., RET polymorphisms in codons 769 and 836 are not associated with predisposition to medullary thyroid carcinoma (2004) Cancer Detection and Prevention, 28 (4), pp. 231-236. , PII S0361090X04000546, DOI: 10.1016/j.cdp.2004.04.002,", "listPosition" : 33, "doi" : "10.1016/j.cdp.2004.04.002,", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542503, "link" : "/api/reference/7542503", "label" : "34. Wohllk, G.N., Soto, C.E., Bravo, A.M., G691S, L769L and S836S ret proto-oncogene polymorphisms are not associated with higher risk to sporadic medullary thyroid carcinoma in Chilean patients (2005) Revista Medica de Chile, 133, pp. 397-402", "listPosition" : 34, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542504, "link" : "/api/reference/7542504", "label" : "35. Ruiz, A., Antinolo, G., Fernandez, R.M., Eng, C., Marcos, I., Borrego, S., Germline sequence variant S836S in the RET proto-oncogene is associated with low level predisposition to sporadic medullary thyroid carcinoma in the Spanish population (2001) Clinical Endocrinology, 55 (3), pp. 399-402., DOI: 10.1046/j.1365-2265.2001.01328.x", "listPosition" : 35, "doi" : "10.1046/j.1365-2265.2001.01328.x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542505, "link" : "/api/reference/7542505", "label" : "36. Berard, I., Kraimps, J.-L., Savagner, F., Murat, A., Renaudin, K., Nicolli-Sire, P., Bertrand, G., Bezieau, S., Germline-sequence variants S836S and L769L in the RE arranged during Transfection (RET) proto-oncogene are not associated with predisposition to sporadic medullary carcinoma in the French population [1] (2004) Clinical Genetics, 65 (2), pp. 150-152., DOI: 10.1111/j.0009-9163.2004.00172.x", "listPosition" : 36, "doi" : "10.1111/j.0009-9163.2004.00172.x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542506, "link" : "/api/reference/7542506", "label" : "37. Fitze, G., Schierz, M., Kuhlisch, E., Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease (2003) Human Mutation, 22, p. 177", "listPosition" : 37, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542507, "link" : "/api/reference/7542507", "label" : "38. Wiench, M., Wygoda, Z., Gubala, E., Wloch, J., Lisowska, K., Krassowski, J., Scieglinska, D., Jarzab, B., Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients (2001) Journal of Clinical Oncology, 19 (5), pp. 1374-1380", "listPosition" : 38, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542508, "link" : "/api/reference/7542508", "label" : "39. Oler, G., Camacho, C.P., Hojaij, F.C., Gene expression profiling of papillary thyroid carcinoma identifies transcripts correlated with BRAF mutational status and lymph node metastasis (2008) Clinical Cancer Research, 14, pp. 4735-4742", "listPosition" : 39, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542509, "link" : "/api/reference/7542509", "label" : "40. Nakabashi, C.C.D., Guimaraes, G.S., Michaluart Jr., P., Ward, L.S., Cerutti, J.M., Maciel, R.M.B., The expression of PAX8-PRARγ rearrangements is not specific to follicular thyroid carcinoma [1] (2004) Clinical Endocrinology, 61 (2), pp. 280-282., DOI: 10.1111/j.1365-2265.2004.02061.x", "listPosition" : 40, "doi" : "10.1111/j.1365-2265.2004.02061.x", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542510, "link" : "/api/reference/7542510", "label" : "41. Reese, M.G., Improved splice site detection in Genie (1997) Journal of Computational Biology, 4 (3), pp. 311-323", "listPosition" : 41, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542511, "link" : "/api/reference/7542511", "label" : "42. Cartegni, L., Wang, J., Zhu, Z., Zhang, M.Q., Krainer, A.R., ESEfinder: A web resource to identify exonic splicing enhancers (2003) Nucleic Acids Research, 31 (13), pp. 3568-3571., DOI: 10.1093/nar/gkg616", "listPosition" : 42, "doi" : "10.1093/nar/gkg616", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542512, "link" : "/api/reference/7542512", "label" : "43. Borrego, S., Ruiz, A., Saez, M.E., Gimm, O., Gao, X., Lopez-Alonso, M., Hernandez, A., Eng, C., RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease (2000) Journal of Medical Genetics, 37 (8), pp. 572-578", "listPosition" : 43, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542513, "link" : "/api/reference/7542513", "label" : "44. Lu, H., Huang, C., Transcription factor NFAT, its role in cancer development, and as a potential target for chemoprevention (2007) Current Cancer Drug Targets, 7 (4), pp. 343-353. , http://docstore.ingenta.com/cgi-bin/ds_deliver/1/u/d/ISIS/37830201.1/ben/ ccdt/2007/00000007/00000004/art00006/B57539C2B81B85C311804860707F36763E3E52425C. pdf?link=http://www.ingentaconnect.com/error/delivery&format=pdf, DOI: 10.2174/156800907780809750", "listPosition" : 44, "doi" : "10.2174/156800907780809750", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542514, "link" : "/api/reference/7542514", "label" : "45. Viola, J.P.B., Carvalho, L.D.S., Fonseca, B.P.F., Teixeira, L.K., NFAT transcription factors: From cell cycle to tumor development (2005) Brazilian Journal of Medical and Biological Research, 38 (3), pp. 335-344", "listPosition" : 45, "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542515, "link" : "/api/reference/7542515", "label" : "46. Burzynski, G.M., Nolte, I.M., Bronda, A., Bos, K., Osinga, J., Menacho, I.P., Twigt, B., Hofstra, R.M.W., Identifying candidate hirschsprung disease-associated RET variants (2005) American Journal of Human Genetics, 76 (5), pp. 850-858., DOI: 10.1086/429589", "listPosition" : 46, "doi" : "10.1086/429589", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542516, "link" : "/api/reference/7542516", "label" : "47. Cebrian, A., Lesueur, F., Martin, S., Leyland, J., Ahmed, S., Luccarini, C., Smith, P.L., Ponder, B.A.J., Polymorphisms in the initiators of RET (Rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma (2005) Journal of Clinical Endocrinology and Metabolism, 90 (11), pp. 6268-6274. , http://jcem.endojournals.org/cgi/reprint/90/11/6268, DOI: 10.1210/jc.2004-2449", "listPosition" : 47, "doi" : "10.1210/jc.2004-2449", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542517, "link" : "/api/reference/7542517", "label" : "48. Mine, M., Brivet, M., Touati, G., Grabowski, P., Abitbol, M., Marsac, C., Splicing error in E1α pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation (2003) Journal of Biological Chemistry, 278 (14), pp. 11768-11772., DOI: 10.1074/jbc.M211106200", "listPosition" : 48, "doi" : "10.1074/jbc.M211106200", "published" : false, "snippet" : true }, { "otype" : "Reference", "mtid" : 7542518, "link" : "/api/reference/7542518", "label" : "49. 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