Torrente I - Search Results

1

Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients.

Torlontano M, Durante C, Torrente I, Crocetti U, Augello G, Ronga G, Montesano T, Travascio L, Verrienti A, Bruno R, Santini S, D'Arcangelo P, Dallapiccola B, Filetti S, Trischitta V. Torlontano M, et al. Among authors: torrente i. J Clin Endocrinol Metab. 2008 Mar;93(3):910-3. doi: 10.1210/jc.2007-1067. Epub 2007 Dec 11. J Clin Endocrinol Metab. 2008. PMID: 18073314

2

Evaluation of a DHPLC-based assay for rapid detection of RET germline mutations in Italian patients with medullary thyroid carcinoma.

Torrente I, Arturi F, D'Aloiso L, Colosimo A, De Luca A, Ferretti E, Russo D, Chiefari E, Scarpelli D, Bisceglia M, Dallapiccola B, Filetti S. Torrente I, et al. J Endocrinol Invest. 2004 Feb;27(2):111-6. doi: 10.1007/BF03346254. J Endocrinol Invest. 2004. PMID: 15129804

3

Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1.

De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B. De Luca A, et al. Among authors: torrente i. Hum Mutat. 2004 Jun;23(6):629. doi: 10.1002/humu.9245. Hum Mutat. 2004. PMID: 15146469

4

Quantitative ultrasound of the hand phalanges in a cohort of monozygotic twins: influence of genetic and environmental factors.

Guglielmi G, de Terlizzi F, Torrente I, Mingarelli R, Dallapiccola B. Guglielmi G, et al. Among authors: torrente i. Skeletal Radiol. 2005 Nov;34(11):727-35. doi: 10.1007/s00256-005-0933-8. Epub 2005 Jul 6. Skeletal Radiol. 2005. PMID: 15999282

5

Five cases of supernumerary small ring chromosomes 1: heterogeneity and genotype-phenotype correlation.

Bernardini L, Capalbo A, D'Avanzo MG, Torrente I, Grammatico P, Dell'Edera D, Cavalcanti DP, Novelli A, Dallapiccola B. Bernardini L, et al. Among authors: torrente i. Eur J Med Genet. 2007 Mar-Apr;50(2):94-102. doi: 10.1016/j.ejmg.2006.11.001. Epub 2006 Nov 23. Eur J Med Genet. 2007. PMID: 17236832

6

Functional analysis of splicing mutations in exon 7 of NF1 gene.

Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: torrente i. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.

7

Interaction of DIO2 T92A and PPARgamma2 P12A polymorphisms in the modulation of metabolic syndrome.

Fiorito M, Torrente I, De Cosmo S, Guida V, Colosimo A, Prudente S, Flex E, Menghini R, Miccoli R, Penno G, Pellegrini F, Tassi V, Federici M, Trischitta V, Dallapiccola B. Fiorito M, et al. Among authors: torrente i. Obesity (Silver Spring). 2007 Dec;15(12):2889-95. doi: 10.1038/oby.2007.343. Obesity (Silver Spring). 2007. PMID: 18198294 Free article.

8

A nationwide genetic testing survey in Italy, year 2007.

Dallapiccola B, Torrente I, Agolini E, Morena A, Mingarelli R. Dallapiccola B, et al. Among authors: torrente i. Genet Test Mol Biomarkers. 2010 Feb;14(1):17-22. doi: 10.1089/gtmb.2009.0097. Genet Test Mol Biomarkers. 2010. PMID: 19929427

9

Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion.

Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B. Bottillo I, et al. Among authors: torrente i. Am J Med Genet A. 2010 Jun;152A(6):1467-73. doi: 10.1002/ajmg.a.33386. Am J Med Genet A. 2010. PMID: 20503322

10

Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

D'Asdia MC, Torrente I, Consoli F, Ferese R, Magliozzi M, Bernardini L, Guida V, Digilio MC, Marino B, Dallapiccola B, De Luca A. D'Asdia MC, et al. Among authors: torrente i. Eur J Med Genet. 2013 Feb;56(2):80-7. doi: 10.1016/j.ejmg.2012.11.005. Epub 2012 Dec 7. Eur J Med Genet. 2013. PMID: 23220543

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