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Items: 7

1.

Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.

Xue F, Yu H, Maurer LH, Memoli VA, Nutile-McMenemy N, Schuster MK, Bowden DW, Mao J, Noll WW.

Hum Mol Genet. 1994 Apr;3(4):635-8.

PMID:
7915165
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
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5.

Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.

Komminoth P, Kunz EK, Matias-Guiu X, Hiort O, Christiansen G, Colomer A, Roth J, Heitz PU.

Cancer. 1995 Aug 1;76(3):479-89.

PMID:
8625130
6.

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;101(6):635-41.

PMID:
9003111
7.

Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618.

Lindskog S, Nilsson O, Jansson S, Nilsson B, Illerskog AC, Ysander L, Ahlman H, Tisell LE.

Br J Surg. 2004 Jun;91(6):713-8.

PMID:
15164440

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