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Positive selection for new disease mutations in the human germline: evidence from the heritable cancer syndrome multiple endocrine neoplasia type 2B.

Choi SK, Yoon SR, Calabrese P, Arnheim N.

PLoS Genet. 2012;8(2):e1002420. doi: 10.1371/journal.pgen.1002420. Epub 2012 Feb 16.


Novel tandem germline RET proto-oncogene mutations in a patient with multiple endocrine neoplasia type 2B: report of a case and a literature review of tandem RET mutations with in silico analysis.

Nakao KT, Usui T, Ikeda M, Mori Y, Yamamoto T, Kawashima ST, Nanba K, Yuno A, Tamanaha T, Tagami T, Naruse M, Asato R, Shimatsu A.

Head Neck. 2013 Dec;35(12):E363-8. doi: 10.1002/hed.23241. Epub 2013 Mar 6. Review.


Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N.

Am J Hum Genet. 2013 Jun 6;92(6):917-26. doi: 10.1016/j.ajhg.2013.05.001. Epub 2013 May 30.


RET proto-oncogene mutations are restricted to codons 634 and 918 in mainland Chinese families with MEN2A and MEN2B.

Zhou Y, Zhao Y, Cui B, Gu L, Zhu S, Li J, Liu J, Yin M, Zhao T, Yin Z, Yu C, Chen C, Wang L, Xiao B, Hong J, Zhang Y, Tang Z, Wang S, Li X, Ning G.

Clin Endocrinol (Oxf). 2007 Oct;67(4):570-6. Epub 2007 Jun 15.


Double germline mutations in the RET Proto-oncogene in MEN 2A and MEN 2B kindreds.

Dvorakova S, Vaclavikova E, Ryska A, Cap J, Vlcek P, Duskova J, Kodetova D, Holub V, Novak Z, Bendlova B.

Exp Clin Endocrinol Diabetes. 2006 Apr;114(4):192-6.


Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.

Camacho CP, Hoff AO, Lindsey SC, Signorini PS, Valente FO, Oliveira MN, Kunii IS, Biscolla RP, Cerutti JM, Maciel RM.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1393-8.


RET activation by germline MEN2A and MEN2B mutations.

Borrello MG, Smith DP, Pasini B, Bongarzone I, Greco A, Lorenzo MJ, Arighi E, Miranda C, Eng C, Alberti L, et al.

Oncogene. 1995 Dec 7;11(11):2419-27.


The development of rapid and accurate screening test for RET hotspot somatic and germline mutations in MEN2 syndromes.

Zupan A, Glavač D.

Exp Mol Pathol. 2015 Dec;99(3):416-25. doi: 10.1016/j.yexmp.2015.08.017. Epub 2015 Aug 29.


Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma.

Eng C, Mulligan LM, Smith DP, Healey CS, Frilling A, Raue F, Neumann HP, Ponder MA, Ponder BA.

Clin Endocrinol (Oxf). 1995 Jul;43(1):123-7.


The molecular anatomy of spontaneous germline mutations in human testes.

Qin J, Calabrese P, Tiemann-Boege I, Shinde DN, Yoon SR, Gelfand D, Bauer K, Arnheim N.

PLoS Biol. 2007 Sep;5(9):e224.


Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation.

Jasim S, Ying AK, Waguespack SG, Rich TA, Grubbs EG, Jimenez C, Hu MI, Cote G, Habra MA.

Thyroid. 2011 Feb;21(2):189-92. doi: 10.1089/thy.2010.0328. Epub 2010 Dec 27.


Increased in vivo phosphorylation of ret tyrosine 1062 is a potential pathogenetic mechanism of multiple endocrine neoplasia type 2B.

Salvatore D, Melillo RM, Monaco C, Visconti R, Fenzi G, Vecchio G, Fusco A, Santoro M.

Cancer Res. 2001 Feb 15;61(4):1426-31.


Genetic testing for familial cancer. Consequences of RET proto-oncogene mutation analysis in multiple endocrine neoplasia, type 2.

Learoyd DL, Marsh DJ, Richardson AL, Twigg SM, Delbridge L, Robinson BG.

Arch Surg. 1997 Sep;132(9):1022-5.


Multiple endocrine neoplasias type 2B and RET proto-oncogene.

Martucciello G, Lerone M, Bricco L, Tonini GP, Lombardi L, Del Rossi CG, Bernasconi S.

Ital J Pediatr. 2012 Mar 19;38:9. doi: 10.1186/1824-7288-38-9. Review.


A germ-line-selective advantage rather than an increased mutation rate can explain some unexpectedly common human disease mutations.

Choi SK, Yoon SR, Calabrese P, Arnheim N.

Proc Natl Acad Sci U S A. 2008 Jul 22;105(29):10143-8. doi: 10.1073/pnas.0801267105. Epub 2008 Jul 16.


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.


Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes.

Romei C, Mariotti S, Fugazzola L, Taccaliti A, Pacini F, Opocher G, Mian C, Castellano M, degli Uberti E, Ceccherini I, Cremonini N, Seregni E, Orlandi F, Ferolla P, Puxeddu E, Giorgino F, Colao A, Loli P, Bondi F, Cosci B, Bottici V, Cappai A, Pinna G, Persani L, Verga U, Boscaro M, Castagna MG, Cappelli C, Zatelli MC, Faggiano A, Francia G, Brandi ML, Falchetti A, Pinchera A, Elisei R; ItaMEN network.

Eur J Endocrinol. 2010 Aug;163(2):301-8. doi: 10.1530/EJE-10-0333. Epub 2010 Jun 1. Erratum in: Eur J Endocrinol. 2010 Dec;163(6):963. Uberta, Verga [corrected to Verga, Uberta].


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