Torricelli F - Search Results

1

Mutation analysis of two candidate genes for premature ovarian failure, DACH2 and POF1B.

Bione S, Rizzolio F, Sala C, Ricotti R, Goegan M, Manzini MC, Battaglia R, Marozzi A, Vegetti W, Dalprà L, Crosignani PG, Ginelli E, Nappi R, Bernabini S, Bruni V, Torricelli F, Zuffardi O, Toniolo D. Bione S, et al. Among authors: torricelli f. Hum Reprod. 2004 Dec;19(12):2759-66. doi: 10.1093/humrep/deh502. Epub 2004 Sep 30. Hum Reprod. 2004. PMID: 15459172

2

A large-scale association study to assess the impact of known variants of the human INHA gene on premature ovarian failure.

Corre T, Schuettler J, Bione S, Marozzi A, Persani L, Rossetti R, Torricelli F, Giotti I, Vogt P, Toniolo D; Italian Network for the study of Ovarian Dysfunctions. Corre T, et al. Among authors: torricelli f. Hum Reprod. 2009 Aug;24(8):2023-8. doi: 10.1093/humrep/dep090. Epub 2009 Apr 10. Hum Reprod. 2009. PMID: 19363042

3

Blood cell mitochondrial DNA content and premature ovarian aging.

Bonomi M, Somigliana E, Cacciatore C, Busnelli M, Rossetti R, Bonetti S, Paffoni A, Mari D, Ragni G, Persani L; Italian Network for the study of Ovarian Dysfunctions. Bonomi M, et al. PLoS One. 2012;7(8):e42423. doi: 10.1371/journal.pone.0042423. Epub 2012 Aug 3. PLoS One. 2012. PMID: 22879975 Free PMC article.

4

Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes.

Radio FC, Majore S, Aurizi C, Sorge F, Biolcati G, Bernabini S, Giotti I, Torricelli F, Giannarelli D, De Bernardo C, Grammatico P. Radio FC, et al. Among authors: torricelli f. Blood Cells Mol Dis. 2015 Jun;55(1):71-5. doi: 10.1016/j.bcmd.2015.04.001. Epub 2015 Apr 16. Blood Cells Mol Dis. 2015. PMID: 25976471

5

Improvement of low-density microelectronic array technology to characterize 14 mutations/single-nucleotide polymorphisms from several human genes on a large scale.

Frusconi S, Giusti B, Rossi L, Bernabini S, Poggi F, Giotti I, Abbate R, Pepe G, Torricelli F. Frusconi S, et al. Among authors: torricelli f. Clin Chem. 2004 Apr;50(4):775-7. doi: 10.1373/clinchem.2003.025197. Clin Chem. 2004. PMID: 15044341 No abstract available.

6

Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation.

Servedio V, d'Apolito M, Maiorano N, Minuti B, Torricelli F, Ronchi F, Zancan L, Perrotta S, Vajro P, Boschetto L, Iolascon A. Servedio V, et al. Among authors: torricelli f. Hum Mutat. 2005 Mar;25(3):325. doi: 10.1002/humu.9322. Hum Mutat. 2005. PMID: 15712364

7

The predictive value of cytogenetic diagnosis after CVS based on 4860 cases with both direct and culture methods.

Pittalis MC, Dalprà L, Torricelli F, Rizzo N, Nocera G, Cariati E, Santarini L, Tibiletti MG, Agosti S, Bovicelli L, et al. Pittalis MC, et al. Among authors: torricelli f. Prenat Diagn. 1994 Apr;14(4):267-78. doi: 10.1002/pd.1970140406. Prenat Diagn. 1994. PMID: 8066036

8

Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

Torricelli F, Girolami F, Olivotto I, Passerini I, Frusconi S, Vargiu D, Richard P, Cecchi F. Torricelli F, et al. Am J Cardiol. 2003 Dec 1;92(11):1358-62. doi: 10.1016/j.amjcard.2003.08.031. Am J Cardiol. 2003. PMID: 14636924

9

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: torricelli f. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793

10

A shifting level model algorithm that identifies aberrations in array-CGH data.

Magi A, Benelli M, Marseglia G, Nannetti G, Scordo MR, Torricelli F. Magi A, et al. Among authors: torricelli f. Biostatistics. 2010 Apr;11(2):265-80. doi: 10.1093/biostatistics/kxp051. Epub 2009 Nov 30. Biostatistics. 2010. PMID: 19948744

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