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Journal Abstract Search

244 related items for PubMed ID: 23723040

  • 1. Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.
    Valente FO, Dias da Silva MR, Camacho CP, Kunii IS, Bastos AU, da Fonseca CC, Simião HP, Tamanaha R, Maciel RM, Cerutti JM.
    J Endocrinol Invest; 2013 Dec; 36(11):975-81. PubMed ID: 23723040
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  • 2. High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
    Toledo RA, Wagner SM, Coutinho FL, Lourenço DM, Azevedo JA, Longuini VC, Reis MT, Siqueira SA, Lucon AM, Tavares MR, Fragoso MC, Pereira AA, Dahia PL, Mulligan LM, Toledo SP.
    J Clin Endocrinol Metab; 2010 Mar; 95(3):1318-27. PubMed ID: 20080836
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  • 3. Penetrance of inherited medullary thyroid carcinoma and genotype-phenotype correlation in a large multiple endocrine neoplasia type 2A family with C634Y RET mutation.
    González-Yebra B, Medrano ME, Mantilla A, Palma V, Colin C, Hernández DM, Tapia J, Dawson B, Salcedo M.
    Endocr Pathol; 2003 Mar; 14(1):71-80. PubMed ID: 12746565
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  • 4. Molecular and biochemical screening for the diagnosis and management of medullary thyroid carcinoma in multiple endocrine neoplasia type 2A.
    Vieira AE, Mello MP, Elias LL, Lau IF, Maciel LM, Moreira AC, Castro M.
    Horm Metab Res; 2002 Apr; 34(4):202-6. PubMed ID: 11987030
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  • 6. A rare missense variant in RET exon 8 in a Portuguese family with atypical multiple endocrine neoplasia type 2A.
    Martins AF, Martins JM, do Vale S, Dias T, Silveira C, da Silva IR, Carmo-Fonseca M.
    Hormones (Athens); 2016 Jul; 15(3):435-440. PubMed ID: 27838608
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  • 10. Multiple endocrine neoplasia type 2A due to an exon 8 (G533C) mutation in a large North American kindred.
    Castro MR, Thomas BC, Richards ML, Zhang J, Morris JC.
    Thyroid; 2013 Dec; 23(12):1547-52. PubMed ID: 23461807
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  • 12. The RET p.G533C mutation confers predisposition to multiple endocrine neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo.
    Oliveira MN, Hemerly JP, Bastos AU, Tamanaha R, Latini FR, Camacho CP, Impellizzeri A, Maciel RM, Cerutti JM.
    Thyroid; 2011 Sep; 21(9):975-85. PubMed ID: 21834681
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  • 14. RET genetic screening in patients with medullary thyroid cancer and their relatives: experience with 807 individuals at one center.
    Elisei R, Romei C, Cosci B, Agate L, Bottici V, Molinaro E, Sculli M, Miccoli P, Basolo F, Grasso L, Pacini F, Pinchera A.
    J Clin Endocrinol Metab; 2007 Dec; 92(12):4725-9. PubMed ID: 17895320
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  • 16. Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.
    Kinlaw WB, Scott SM, Maue RA, Memoli VA, Harris RD, Daniels GH, Porter DM, Belloni DR, Spooner ET, Ernesti MM, Noll WW.
    Clin Endocrinol (Oxf); 2005 Dec; 63(6):676-82. PubMed ID: 16343103
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  • 17. Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.
    Egawa S, Futami H, Takasaki K, Iihara M, Okamoto T, Kanbe M, Ohi T, Saio Y, Miyauchi A, Takiyama Y, Koga M, Miyanaga K, Inoue K, Mitsuyama S, Nomura Y, Takei H, Mugiya S, Ishida O, Zeze F, Shakutsui S, Inoue H, Oya H, Yoshimura A, Ishizuka S, Yamaguchi K.
    Jpn J Clin Oncol; 1998 Oct; 28(10):590-6. PubMed ID: 9839497
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  • 20. A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.
    Bae SJ, Kim DJ, Kim JY, Park SY, Choi SH, Song YD, Ki CS, Chung JH.
    Thyroid; 2006 Jun; 16(6):609-14. PubMed ID: 16839264
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