FERRARI, SIMONA
FERRARI, SIMONA
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype
2017 Zuntini, Roberta; Cortesi, Laura; Calistri, Daniele; Pippucci, Tommaso; Martelli, Pier Luigi; Casadio, Rita; Capizzi, Elisa; Santini, Donatella; Miccoli, Sara; Medici, Veronica; Danesi, Rita; Marchi, Isabella; Zampiga, Valentina; Fiorentino, Michelangelo; Ferrari, Simona; Turchetti, Daniela
Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes
2016 Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Danieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
2015 Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
2014 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
Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN).
2010 Cordelli D.M.; Garone C.; Marchiani V.; Lodi R.; Tonon C.; Ferrari S.; Seri M.; Franzoni E.
An evolutionary approach to the medical implications of the tumor necrosis factor receptor superfamily member 13B (TNFRSF13B) gene.
2009 Sazzini M; Zuntini R; Farjadian S; Quinti I; Ricci G; Romeo G; Ferrari S; Calafell F; Luiselli D.
IGA DEFICIENCY: CASE REVIEW AND CORRELATION WITH DEFECTS OF THE TACI GENE.
2008 Bendandi B.; Ricci G.; Belotti T.; Ferrari S.; Dondi A.; Savorelli G.; Masi M.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype | Zuntini, Roberta; Cortesi, Laura; Calistri, Daniele; Pippucci, Tommaso; Martelli, Pier Luigi; Cas...adio, Rita; Capizzi, Elisa; Santini, Donatella; Miccoli, Sara; Medici, Veronica; Danesi, Rita; Marchi, Isabella; Zampiga, Valentina; Fiorentino, Michelangelo; Ferrari, Simona; Turchetti, Daniela | 2017-01-01 | ONCOTARGET | - | 1.01 Articolo in rivista | - |
| Clinical Associations of Biallelic and Monoallelic TNFRSF13B Variants in Italian Primary Antibody Deficiency Syndromes | Pulvirenti, Federica; Zuntini, Roberta; Milito, Cinzia; Specchia, Fernando; Spadaro, Giuseppe; Da...nieli, Maria Giovanna; Pession, Andrea; Quinti, Isabella; Ferrari, Simona | 2016-01-01 | JOURNAL OF IMMUNOLOGY RESEARCH | - | 1.01 Articolo in rivista | 8390356.pdf |
| Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration | Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano,... Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco | 2015-01-01 | MOLECULAR CYTOGENETICS | - | 1.01 Articolo in rivista | Magini P et al Recombinant X Chromosome.pdf |
| 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 | 2014-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
| Progressive cerebral white matter involvement in a patient with Congenital Cataracts Facial Dysmorphisms Neuropathy (CCFDN). | Cordelli D.M.; Garone C.; Marchiani V.; Lodi R.; Tonon C.; Ferrari S.; Seri M.; Franzoni E. | 2010-01-01 | NEUROMUSCULAR DISORDERS | - | 1.01 Articolo in rivista | - |
| 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. | 2009-01-01 | GENES AND IMMUNITY | - | 1.01 Articolo in rivista | - |
| IGA DEFICIENCY: CASE REVIEW AND CORRELATION WITH DEFECTS OF THE TACI GENE. | Bendandi B.; Ricci G.; Belotti T.; Ferrari S.; Dondi A.; Savorelli G.; Masi M. | 2008-01-01 | ALLERGY | - | 1.06 Abstract in rivista | - |