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Items: 7

1.

The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects.

Beldjord C, Desclaux-Arramond F, Raffin-Sanson M, Corvol JC, De Keyzer Y, Luton JP, Plouin PF, Bertagna X.

J Clin Endocrinol Metab. 1995 Jul;80(7):2063-8.

PMID:
7608256
2.

A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.

Bae SJ, Kim DJ, Kim JY, Park SY, Choi SH, Song YD, Ki CS, Chung JH.

Thyroid. 2006 Jun;16(6):609-14.

PMID:
16839264
3.

Patients with RET D631Y mutations most commonly present with pheochromocytoma and not medullary thyroid carcinoma.

Elston MS, Meyer-Rochow GY, Holdaway I, Conaglen JV.

Horm Metab Res. 2012 May;44(5):339-42. doi: 10.1055/s-0031-1295497. Epub 2012 Jan 24.

PMID:
22274720
4.

Germline mutations and genotype-phenotype correlations in patients with apparently sporadic pheochromocytoma/paraganglioma in Korea.

Kim JH, Seong MW, Lee KE, Choi HJ, Ku EJ, Bae JH, Park SS, Choi SH, Kim SW, Shin C, Kim SY.

Clin Genet. 2014 Nov;86(5):482-6. doi: 10.1111/cge.12304. Epub 2013 Nov 15.

PMID:
24134185
5.

Mechanism of Ret activation by a mutation at aspartic acid 631 identified in sporadic pheochromocytoma.

Asai N, Iwashita T, Murakami H, Takanari H, Ohmori K, Ichihara M, Takahashi M.

Biochem Biophys Res Commun. 1999 Feb 24;255(3):587-90.

PMID:
10049754
6.

Pyrosequencing technology as a method for the diagnosis of multiple endocrine neoplasia type 2.

Kruckeberg KE, Thibodeau SN.

Clin Chem. 2004 Mar;50(3):522-9. Epub 2004 Jan 12.

7.

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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