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Items: 7

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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.

Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.

Kinlaw WB, Scott SM, Maue RA, Memoli VA, Harris RD, Daniels GH, Porter DM, Belloni DR, Spooner ET, Ernesti MM, Noll WW.

Clin Endocrinol (Oxf). 2005 Dec;63(6):676-82.

PMID:
16343103
4.

Characterization of the largest kindred with MEN2A due to a Cys609Ser RET mutation.

Mian C, Barollo S, Zambonin L, Pennelli G, Bernante P, Pelizzo MR, Nacamulli D, Mantero F, Girelli ME, Opocher G.

Fam Cancer. 2009;8(4):379-82. doi: 10.1007/s10689-009-9250-z. Epub 2009 May 28.

PMID:
19475497
5.

Occurrence of pheochromocytoma in a MEN2A family with codon 609 mutation of the RET proto-oncogene.

Igaz P, Patócs A, Rácz K, Klein I, Váradi A, Esik O.

J Clin Endocrinol Metab. 2002 Jun;87(6):2994. No abstract available.

PMID:
12050290
6.

Histopathologic and clinical features of medullary microcarcinoma and C-cell hyperplasia in prophylactic thyroidectomies for medullary carcinoma: a study of 42 cases.

Etit D, Faquin WC, Gaz R, Randolph G, DeLellis RA, Pilch BZ.

Arch Pathol Lab Med. 2008 Nov;132(11):1767-73. doi: 10.1043/1543-2165-132.11.1767.

PMID:
18976013
7.

Clinical and biochemical features of sporadic and hereditary phaeochromocytomas: an analysis of 41 cases investigated in a single endocrine centre.

Patócs A, Karádi E, Tóth M, Varga I, Szücs N, Balogh K, Majnik J, Gláz E, Rácz K.

Eur J Cancer Prev. 2004 Oct;13(5):403-9.

PMID:
15452453

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