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Journal Abstract Search

229 related items for PubMed ID: 20979234

  • 1. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10.
    Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, Toledo SP, Toledo RA, Tavares MR, Alevizaki M, Mian C, Siggelkow H, Hüfner M, Wohllk N, Opocher G, Dvořáková S, Bendlova B, Czetwertynska M, Skasko E, Barontini M, Sanso G, Vorländer C, Maia AL, Patocs A, Links TP, de Groot JW, Kerstens MN, Valk GD, Miehle K, Musholt TJ, Biarnes J, Damjanovic S, Muresan M, Wüster C, Fassnacht M, Peczkowska M, Fauth C, Golcher H, Walter MA, Pichl J, Raue F, Eng C, Neumann HP, International RET Exon 10 Consortium.
    Hum Mutat; 2011 Jan; 32(1):51-8. PubMed ID: 20979234
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  • 7. 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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  • 8. Genotype-specific development of MEN 2 constituent components in 683 RET carriers.
    Machens A, Lorenz K, Weber F, Brandenburg T, Führer-Sakel D, Dralle H.
    Endocr Relat Cancer; 2024 Jul 01; 31(7):. PubMed ID: 38753300
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  • 10. RET codon 609 mutations: a contribution for better clinical managing.
    Mian C, Sartorato P, Barollo S, Zane M, Opocher G.
    Clinics (Sao Paulo); 2012 Jul 01; 67 Suppl 1(Suppl 1):33-6. PubMed ID: 22584703
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  • 11. Familial medullary thyroid carcinoma: not a distinct entity? Genotype-phenotype correlation in a large family.
    Moers AM, Landsvater RM, Schaap C, Jansen-Schillhorn van Veen JM, de Valk IA, Blijham GH, Höppener JW, Vroom TM, van Amstel HK, Lips CJ.
    Am J Med; 1996 Dec 01; 101(6):635-41. PubMed ID: 9003111
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  • 12. [A comparison of clinical characteristics between 2 pedigrees of multiple endocrine neoplasia type 2A with different RET mutations].
    Weng Y, Xue SN, Zhang SL, Cheng H, Yan L.
    Zhonghua Nei Ke Za Zhi; 2018 Feb 01; 57(2):134-137. PubMed ID: 29397600
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  • 14. A 6-Base Pair in Frame Germline Deletion in Exon 7 Of RET Leads to Increased RET Phosphorylation, ERK Activation, and MEN2A.
    Latteyer S, Klein-Hitpass L, Khandanpour C, Zwanziger D, Poeppel TD, Schmid KW, Führer D, Moeller LC.
    J Clin Endocrinol Metab; 2016 Mar 01; 101(3):1016-22. PubMed ID: 26765577
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  • 15. 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 01; 14(1):71-80. PubMed ID: 12746565
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  • 16. Multiple endocrine neoplasia type 2.
    Wohllk N, Schweizer H, Erlic Z, Schmid KW, Walz MK, Raue F, Neumann HP.
    Best Pract Res Clin Endocrinol Metab; 2010 Jun 01; 24(3):371-87. PubMed ID: 20833330
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  • 17. 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 01; 36(11):975-81. PubMed ID: 23723040
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  • 20. A Homozygous RET K666N Genotype With an MEN2A Phenotype.
    Jaber T, Hyde SM, Cote GJ, Grubbs EG, Giles WH, Stevens CA, Dadu R.
    J Clin Endocrinol Metab; 2018 Apr 01; 103(4):1269-1272. PubMed ID: 29408964
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