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Items: 15

1.

Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

Donis-Keller H, Dou S, Chi D, Carlson KM, Toshima K, Lairmore TC, Howe JR, Moley JF, Goodfellow P, Wells SA Jr.

Hum Mol Genet. 1993 Jul;2(7):851-6.

PMID:
8103403
2.

Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers.

Sanso GE, Domene HM, Garcia R, Pusiol E, de M, Roque M, Ring A, Perinetti H, Elsner B, Iorcansky S, Barontini M.

Cancer. 2002 Jan 15;94(2):323-30.

3.

Pheochromocytoma penetrance varies by RET mutation in MEN 2A.

Quayle FJ, Fialkowski EA, Benveniste R, Moley JF.

Surgery. 2007 Dec;142(6):800-5; discussion 805.e1. Epub 2007 Nov 5. Erratum in: Surgery. 2008 Feb;143(2):301.

PMID:
18063059
4.

Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.

Magalhães PK, Antonini SR, de Paula FJ, de Freitas LC, Maciel LM.

Thyroid. 2011 May;21(5):547-50. doi: 10.1089/thy.2010.0336. Epub 2011 Mar 30.

PMID:
21449769
5.

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.

Sánchez B, Robledo M, Biarnes J, Sáez ME, Volpini V, Benítez J, Navarro E, Ruiz A, Antiñolo G, Borrego S.

J Med Genet. 1999 Jan;36(1):68-70.

6.

Frequent association between MEN 2A and cutaneous lichen amyloidosis.

Verga U, Fugazzola L, Cambiaghi S, Pritelli C, Alessi E, Cortelazzi D, Gangi E, Beck-Peccoz P.

Clin Endocrinol (Oxf). 2003 Aug;59(2):156-61.

PMID:
12864791
7.

RET proto-oncogene mutations in French MEN 2A and FMTC families.

Schuffenecker I, Billaud M, Calender A, Chambe B, Ginet N, Calmettes C, Modigliani E, Lenoir GM.

Hum Mol Genet. 1994 Nov;3(11):1939-43.

PMID:
7874109
8.

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines.

Chappuis-Flament S, Pasini A, De Vita G, Ségouffin-Cariou C, Fusco A, Attié T, Lenoir GM, Santoro M, Billaud M.

Oncogene. 1998 Dec 3;17(22):2851-61.

9.

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.

Santoro M, Carlomagno F, Romano A, Bottaro DP, Dathan NA, Grieco M, Fusco A, Vecchio G, Matoskova B, Kraus MH, et al.

Science. 1995 Jan 20;267(5196):381-3.

PMID:
7824936
10.
11.

Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

Pasini A, Geneste O, Legrand P, Schlumberger M, Rossel M, Fournier L, Rudkin BB, Schuffenecker I, Lenoir GM, Billaud M.

Oncogene. 1997 Jul 24;15(4):393-402.

12.

From medical history and biochemical tests to presymptomatic treatment in a large MEN 2A family.

Lips CJ, Landsvater RM, Höppener JW, Geerdink RA, Blijham GH, Jansen-Schillhorn van Veen JM, Feldberg MA, van Gils AP, Hoogenboom H, Berends MJ, et al.

J Intern Med. 1995 Oct;238(4):347-56.

PMID:
7595171
13.

Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A.

Lips CJ, Landsvater RM, Höppener JW, Geerdink RA, Blijham G, van Veen JM, van Gils AP, de Wit MJ, Zewald RA, Berends MJ, et al.

N Engl J Med. 1994 Sep 29;331(13):828-35.

14.

Familial prevalence and age of RET germline mutations: implications for screening.

Machens A, Dralle H.

Clin Endocrinol (Oxf). 2008 Jul;69(1):81-7. Epub 2008 Jul 1.

PMID:
18062802
15.

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

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