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Items: 15

1.

A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A.

Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Höppner W.

J Clin Endocrinol Metab. 1998 Mar;83(3):770-4.

PMID:
9506724
2.

Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome.

Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, Schott M, Gabbert HE, Valimäki M, Preuss SF, Hasse-Lazar K, Waligorski D, Robledo M, Januszewicz A, Eng C, Neumann HP.

J Clin Endocrinol Metab. 2010 Jan;95(1):308-13. doi: 10.1210/jc.2009-1728. Epub 2009 Nov 11.

3.

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA, Hatakana R, Lourenço DM Jr, Lindsey SC, Camacho CP, Almeida M, Lima JV Jr, Sekiya T, Garralda E, Naslavsky MS, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJ, Lebrao ML, Duarte YA, Blangero J, Zatz M, Cerutti JM, Maciel RM, Toledo SP.

Endocr Relat Cancer. 2015 Feb;22(1):65-76. doi: 10.1530/ERC-14-0491. Epub 2014 Nov 25.

4.

RET-familial medullary thyroid carcinoma mutants Y791F and S891A activate a Src/JAK/STAT3 pathway, independent of glial cell line-derived neurotrophic factor.

Plaza Menacho I, Koster R, van der Sloot AM, Quax WJ, Osinga J, van der Sluis T, Hollema H, Burzynski GM, Gimm O, Buys CH, Eggen BJ, Hofstra RM.

Cancer Res. 2005 Mar 1;65(5):1729-37.

5.

Molecular implications of RET mutations for pheochromocytoma risk in multiple endocrine neoplasia 2.

Gujral TS, Mulligan LM.

Ann N Y Acad Sci. 2006 Aug;1073:234-40.

PMID:
17102091
6.

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G.

Hum Mutat. 1997;9(3):243-9.

PMID:
9090527
7.

Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients.

Fitze G, Paditz E, Schläfke M, Kuhlisch E, Roesner D, Schackert HK.

J Med Genet. 2003 Feb;40(2):E10. No abstract available.

8.

The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease.

Skába R, Dvoráková S, Václavíková E, Vlcek P, Frantlová M, Bendlová B.

Pediatr Surg Int. 2006 Dec;22(12):991-5.

PMID:
17021738
9.

Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia.

Colombo-Benkmann M, Brämswig J, Höppner W, Gellner R, Hengst K, Böcker W, Senninger N.

World J Surg. 2002 Oct;26(10):1286-90. Epub 2002 Sep 4.

PMID:
12205548
10.

RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.

Vaclavikova E, Dvorakova S, Sykorova V, Bilek R, Dvorakova K, Vlcek P, Skaba R, Zelinka T, Bendlova B.

Endocrine. 2009 Dec;36(3):419-24. doi: 10.1007/s12020-009-9242-7. Epub 2009 Oct 14.

PMID:
19826964
11.

A RET mutation with decreased penetrance in the family of a patient with a "sporadic" pheochromocytoma.

Arum SM, Dahia PL, Schneider K, Braverman LE.

Endocrine. 2005 Nov;28(2):193-8.

PMID:
16388093
12.

Codon Y791F mutations in a large kindred: is prophylactic thyroidectomy always indicated?

Vestergaard P, Vestergaard EM, Brockstedt H, Christiansen P.

World J Surg. 2007 May;31(5):996-1001; discussion 1002-4.

PMID:
17483988
13.

The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland.

Paszko Z, Sromek M, Czetwertynska M, Skasko E, Czapczak D, Wisniewska A, Prokurat A, Chrupek M, Jagielska A, Kozlowicz-Gudzinska I.

Cancer Invest. 2007 Dec;25(8):742-9.

PMID:
18058472
14.

RET Y791F Variant Does Not Increase the Risk for Medullary Thyroid Carcinoma.

Toledo RA, Maciel RM, Erlic Z, Lourenço DM Jr, Cerutti JM, Eng C, Neumann HP, Toledo SP.

Thyroid. 2015 Aug;25(8):973-4. doi: 10.1089/thy.2015.0168. Epub 2015 Jun 12. No abstract available.

PMID:
25950813
15.

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

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