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Items: 7

1.

A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma.

Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM.

J Clin Endocrinol Metab. 2003 Nov;88(11):5438-43.

PMID:
14602786
2.

Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation.

Tamanaha R, Camacho CP, Pereira AC, da Silva AM, Maciel RM, Cerutti JM.

Clin Endocrinol (Oxf). 2009 Jul;71(1):56-64. doi: 10.1111/j.1365-2265.2008.03491.x. Epub 2008 Dec 5.

PMID:
19138318
3.

A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening.

Kaldrymides P, Mytakidis N, Anagnostopoulos T, Vassiliou M, Tertipi A, Zahariou M, Rampias T, Koutsodontis G, Konstantopoulou I, Ladopoulou A, Bei T, Yannoukakos D.

Clin Endocrinol (Oxf). 2006 May;64(5):561-6.

PMID:
16649977
4.

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. doi: 10.1089/thy.2012.0599. Epub 2013 Jul 25.

PMID:
23461807
5.

A ten-year clinical update of a large RET p.Gly533Cys kindred with medullary thyroid carcinoma emphasizes the need for an individualized assessment of affected relatives.

Signorini PS, Fran├ža MI, Camacho CP, Lindsey SC, Valente FO, Kasamatsu TS, Machado AL, Salim CP, Delcelo R, Hoff AO, Cerutti JM, Dias-da-Silva MR, Maciel RM.

Clin Endocrinol (Oxf). 2014 Feb;80(2):235-45. doi: 10.1111/cen.12264. Epub 2013 Jun 28.

PMID:
23745650
6.

Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene.

Peppa M, Boutati E, Kamakari S, Pikounis V, Peros G, Panayiotides IG, Economopoulos T, Raptis SA, Hadjidakis D.

Eur J Endocrinol. 2008 Dec;159(6):767-71. doi: 10.1530/EJE-08-0476. Epub 2008 Sep 19. Review.

PMID:
18805915
7.

A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A.

Bethanis S, Koutsodontis G, Palouka T, Avgoustis C, Yannoukakos D, Bei T, Papadopoulos S, Linos D, Tsagarakis S.

Hormones (Athens). 2007 Apr-Jun;6(2):152-6.

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