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Items: 6

1.

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Fitze G, Cramer J, Ziegler A, Schierz M, Schreiber M, Kuhlisch E, Roesner D, Schackert HK.

Lancet. 2002 Apr 6;359(9313):1200-5.

PMID:
11955539
2.

RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC).

Romei C, Cosci B, Renzini G, Bottici V, Molinaro E, Agate L, Passannanti P, Viola D, Biagini A, Basolo F, Ugolini C, Materazzi G, Pinchera A, Vitti P, Elisei R.

Clin Endocrinol (Oxf). 2011 Feb;74(2):241-7. doi: 10.1111/j.1365-2265.2010.03900.x.

PMID:
21054478
3.

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].

PMID:
20516206
4.

In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.

Cosci B, Vivaldi A, Romei C, Gemignani F, Landi S, Ciampi R, Tacito A, Molinaro E, Agate L, Bottici V, Cappagli V, Viola D, Piaggi P, Vitti P, Pinchera A, Elisei R.

Endocr Relat Cancer. 2011 Sep 20;18(5):603-12. doi: 10.1530/ERC-11-0117. Print 2011 Oct.

PMID:
21810974
5.

Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?

Romei C, Tacito A, Molinaro E, Agate L, Bottici V, Viola D, Matrone A, Biagini A, Casella F, Ciampi R, Materazzi G, Miccoli P, Torregrossa L, Ugolini C, Basolo F, Vitti P, Elisei R.

Clin Endocrinol (Oxf). 2015 Jun;82(6):892-9. doi: 10.1111/cen.12686. Epub 2014 Dec 29.

PMID:
25440022
6.

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D.

Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3.

PMID:
28946813

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