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Items: 11

2.

Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.

Feldman GL, Edmonds MW, Ainsworth PJ, Schuffenecker I, Lenoir GM, Saxe AW, Talpos GB, Roberson J, Petrucelli N, Jackson CE.

Surgery. 2000 Jul;128(1):93-8.

PMID:
10876191
3.

Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?

Frohnauer MK, Decker RA.

Surgery. 2000 Dec;128(6):1052-7;discussion 1057-8.

PMID:
11114642
4.

V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.

Lecube A, Hernandez C, Oriola J, Galard R, Gémar E, Mesa J, Simó R.

Surgery. 2002 May;131(5):509-14.

PMID:
12019403
5.

Germline homozygous mutations at codon 804 in the RET protooncogene in medullary thyroid carcinoma/multiple endocrine neoplasia type 2A patients.

Lesueur F, Cebrian A, Cranston A, Leyland J, Faid TM, Clements MR, Robledo M, Whittaker J, Ponder BA.

J Clin Endocrinol Metab. 2005 Jun;90(6):3454-7. Epub 2005 Mar 1.

PMID:
15741265
6.

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management.

Mukherjee S, Zakalik D.

Clin Genet. 2011 Jan;79(1):1-16. doi: 10.1111/j.1399-0004.2010.01453.x. Review.

PMID:
20497437
7.

Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis.

Rothberg AE, Raymond VM, Gruber SB, Sisson J.

Thyroid. 2009 Jun;19(6):651-5. doi: 10.1089/thy.2009.0021.

8.

RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype.

Pinna G, Orgiana G, Riola A, Ghiani M, Lai ML, Carcassi C, Mariotti S.

Thyroid. 2007 Feb;17(2):101-4.

PMID:
17316110
10.

Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.

Recasens M, Oriola J, Fernández-Real JM, Roig J, Rodríguez-Hermosa JI, Font JA, Galofre P, López-Bermejo A, Ricart W.

Clin Endocrinol (Oxf). 2007 Jul;67(1):29-33. Epub 2007 Apr 27.

PMID:
17466010
11.

A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.

Fattoruso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, Colantuoni V.

Hum Mutat. 1998;Suppl 1:S167-71. No abstract available.

PMID:
9452077

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