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Items: 3

1.

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D.

Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3.

PMID:
28946813
2.

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP.

J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11.

3.

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA, Hatakana R, Lourenço DM Jr, Lindsey SC, Camacho CP, Almeida M, Lima JV Jr, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP.

Endocr Relat Cancer. 2015 Feb;22(1):65-76. doi: 10.1530/ERC-14-0491. Epub 2014 Nov 25.

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