Ferrari S - Search Results

1

BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype.

Zuntini R, Cortesi L, Calistri D, Pippucci T, Martelli PL, Casadio R, Capizzi E, Santini D, Miccoli S, Medici V, Danesi R, Marchi I, Zampiga V, Fiorentino M, Ferrari S, Turchetti D. Zuntini R, et al. Among authors: ferrari s. Oncotarget. 2017 Apr 4;8(14):22640-22648. doi: 10.18632/oncotarget.15151. Oncotarget. 2017. PMID: 28186987 Free PMC article.

2

Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.

Turchetti D, Razzaboni E, Zomer H, Rossi C, Ferrari S, Greco D, Graziano C, Romeo G, Seri M. Turchetti D, et al. Among authors: ferrari s. Prenat Diagn. 2006 Dec;26(12):1156-9. doi: 10.1002/pd.1577. Prenat Diagn. 2006. PMID: 17009341

3

Mutations of the Igbeta gene cause agammaglobulinemia in man.

Ferrari S, Lougaris V, Caraffi S, Zuntini R, Yang J, Soresina A, Meini A, Cazzola G, Rossi C, Reth M, Plebani A. Ferrari S, et al. J Exp Med. 2007 Sep 3;204(9):2047-51. doi: 10.1084/jem.20070264. Epub 2007 Aug 20. J Exp Med. 2007. PMID: 17709424 Free PMC article.

4

An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.

Sazzini M, Zuntini R, Farjadian S, Quinti I, Ricci G, Romeo G, Ferrari S, Calafell F, Luiselli D. Sazzini M, et al. Among authors: ferrari s. Genes Immun. 2009 Sep;10(6):566-78. doi: 10.1038/gene.2009.43. Epub 2009 Jun 4. Genes Immun. 2009. PMID: 19494827

5

A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer.

Pradella LM, Evangelisti C, Ligorio C, Ceccarelli C, Neri I, Zuntini R, Amato LB, Ferrari S, Martelli AM, Gasparre G, Turchetti D. Pradella LM, et al. Among authors: ferrari s. BMC Cancer. 2014 Feb 6;14:70. doi: 10.1186/1471-2407-14-70. BMC Cancer. 2014. PMID: 24498881 Free PMC article.

6

Autosomal dominant partial epilepsy with auditory features: a new locus on chromosome 19q13.11-q13.31.

Bisulli F, Naldi I, Baldassari S, Magini P, Licchetta L, Castegnaro G, Fabbri M, Stipa C, Ferrari S, Seri M, Gonçalves Silva GE, Tinuper P, Pippucci T. Bisulli F, et al. Among authors: ferrari s. Epilepsia. 2014 Jun;55(6):841-8. doi: 10.1111/epi.12560. Epub 2014 Mar 1. Epilepsia. 2014. PMID: 24579982 Free article.

7

Consanguinity and polygenic diseases: a model for antibody deficiencies.

Di Pierro V, Zuntini R, Cancrini C, Finocchi A, Angelino G, Rossi P, Ferrari S. Di Pierro V, et al. Among authors: ferrari s. Hum Hered. 2014;77(1-4):144-9. doi: 10.1159/000362364. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060277 Free article.

8

BRCA-associated ovarian cancer: from molecular genetics to risk management.

Girolimetti G, Perrone AM, Santini D, Barbieri E, Guerra F, Ferrari S, Zamagni C, De Iaco P, Gasparre G, Turchetti D. Girolimetti G, et al. Among authors: ferrari s. Biomed Res Int. 2014;2014:787143. doi: 10.1155/2014/787143. Epub 2014 Jul 22. Biomed Res Int. 2014. PMID: 25136623 Free PMC article. Review.

9

Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.

Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Among authors: ferrari s. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.

10

A unique combination of rare mitochondrial ribosomal RNA variants affects the kinetics of complex I assembly.

Porcelli AM, Calvaruso MA, Iommarini L, Kurelac I, Zuntini R, Ferrari S, Gasparre G. Porcelli AM, et al. Among authors: ferrari s. Int J Biochem Cell Biol. 2016 Jun;75:117-22. doi: 10.1016/j.biocel.2016.04.007. Epub 2016 Apr 19. Int J Biochem Cell Biol. 2016. PMID: 27102412

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