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Items: 6

1.

Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A.

Wells SA Jr, Chi DD, Toshima K, Dehner LP, Coffin CM, Dowton SB, Ivanovich JL, DeBenedetti MK, Dilley WG, Moley JF, et al.

Ann Surg. 1994 Sep;220(3):237-47; discussion 247-50.

2.

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. doi: 10.1002/humu.21385.

PMID:
20979234
3.

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, et al.

Jpn J Clin Oncol. 1998 Oct;28(10):590-6.

PMID:
9839497
4.

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Quayle FJ, Fialkowski EA, Benveniste R, Moley JF.

Surgery. 2007 Dec;142(6):800-5; discussion 805.e1. Epub 2007 Nov 5. Erratum in: Surgery. 2008 Feb;143(2):301.

PMID:
18063059
5.

Presymptomatic genetic screening in families with multiple endocrine neoplasia type 2.

Frilling A, Höppner W, Eng C, Mulligan L, Raue F, Broelsch CE.

J Mol Med (Berl). 1995 May;73(5):229-33.

PMID:
7670926
6.

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, Leskelä S, Leandro-García LJ, Letón R, Rodríguez-Antona C, Díaz JA, López-Vidriero E, González-Neira A, Velasco A, Matias-Guiu X, Gimenez-Roqueplo AP, Robledo M.

J Clin Endocrinol Metab. 2009 May;94(5):1701-5. doi: 10.1210/jc.2008-2756. Epub 2009 Mar 3.

PMID:
19258401

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