Age-related macular degeneration: insights into inflammatory genes
2014-01-01 Cascella, R; Ragazzo, M; Strafella, C; Missiroli, F; Borgiani, P; Angelucci, F; Marsella, Lt; Cusumano, A; Novelli, G; Ricci, F; Giardina, E
Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD
2022-01-01 Caputo, Valerio; Megalizzi, Domenica; Fabrizio, Carlo; Termine, Andrea; Colantoni, Luca; Caltagirone, Carlo; Giardina, Emiliano; Cascella, Raffaella; Strafella, Claudia
The Genetics and the Genomics of Primary Congenital Glaucoma.
2015-01-01 Cascella, R; Strafella, C; Germani, C; Novelli, G; Ricci, F; Zampatti, S; Giardina, E.
Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study
2013-01-01 Ricci, F; Staurenghi, G; Lepre, T; Missiroli, F; Zampatti, S; Cascella, R; Borgiani, P; Marsella, Lt; Eandi, Cm; Cusumano, A; Novelli, G; Giardina, E
Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association
2011-01-01 Cascella, R; Cuzzola, Vf; Lepre, T; Galli, E; Moschese, V; Chini, L; Mazzanti, C; Fortugno, P; Novelli, G; Giardina, E
Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis
2014-01-01 Terrinoni, A; Giardina, E; Pertusi, G; Cascella, R; Serra, V; Bornacina, C; Palombo, R; Tiberio, R; Gattoni, M; Novelli, G; Annicchiarico-Petruzzelli, M; Melino, G; Colombo, E
Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa
2019-01-01 Aloe, G; De Sanctis, Cm; Strafella, C; Cascella, R; Missiroli, F; Cesareo, M; Giardina, E; Ricci, F.
Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications
2020-01-01 Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R
Genetic counselling improves the molecular characterisation of dementing disorders
2021-01-01 Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E
Tracking the Initial Diffusion of SARS-CoV-2 Omicron Variant in Italy by RT-PCR and Comparison with Alpha and Delta Variants Spreading
2022-01-01 Caputo, V; Calvino, G; Strafella, C; Termine, A; Fabrizio, C; Trastulli, G; Ingrascì, A; Peconi, C; Bardini, S; Rossini, A; Salvia, A; Borsellino, G; Battistini, L; Caltagirone, C; Cascella, R; Giardina, E
Laryngopharyngeal reflux disease in adult patients: tears and pepsin
2020-01-01 Magliulo, G; Pace, A; Plateroti, R; Plateroti, Am; Cascella, R; Solito, C; Rossetti, V; Iannella, G
Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD
2018-01-01 Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E.
The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A
2019-01-01 Strafella, C; Errichiello, V; Caputo, V; Aloe, G; Ricci, F; Cusumano, A; Novelli, G; Giardina, E; Cascella, R
Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations.
2016-01-01 Cascella, R; Strafella, C; Gambardella, S; Longo, G; Borgiani, P; Sangiuolo, F; Novelli, G; Giardina, E.; Cascella, R; Strafella, C; Gambardella, S; Longo, G; Borgiani, P; Sangiuolo, F; Novelli, G; Giardina, E.
The variability of SMCHD1 gene in FSHD patients: evidence of new mutations
2019-01-01 Strafella, C; Caputo, V; Galota, Rm; Campoli, G; Bax, C; Colantoni, L; Minozzi, G; Orsini, C; Politano, L; Tasca, G; Novelli, G; Ricci, E; Giardina, E; Cascella, R
Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients
2013-01-01 Lepre, T; Cascella, R; Ragazzo, M; Galli, E; Novelli, G; Giardina, E
Towards the application of precision medicine in Age-Related Macular Degeneration.
2018-01-01 Cascella, R; Strafella, C; Caputo, V; Errichiello, V; Zampatti, S; Milano, F; Potenza, S; Mauriello, S; Novelli, G; Ricci, F; Cusumano, A; Giardina, E.
Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD
2023-01-01 Strafella, Claudia; Caputo, Valerio; Bortolani, Sara; Torchia, Eleonora; Megalizzi, Domenica; Trastulli, Giulia; Monforte, Mauro; Colantoni, Luca; Caltagirone, Carlo; Ricci, Enzo; Tasca, Giorgio; Cascella, Raffaella; Giardina, Emiliano
Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report
2019-01-01 Strafella, C; Campoli, G; Galota, Rm; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E.
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era
2019-01-01 Zampatti, S; Colantoni, L; Strafella, C; Galota, Rm; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Age-related macular degeneration: insights into inflammatory genes | 1-gen-2014 | Cascella, R; Ragazzo, M; Strafella, C; Missiroli, F; Borgiani, P; Angelucci, F; Marsella, Lt; Cusumano, A; Novelli, G; Ricci, F; Giardina, E | |
| Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD | 1-gen-2022 | Caputo, Valerio; Megalizzi, Domenica; Fabrizio, Carlo; Termine, Andrea; Colantoni, Luca; Caltagirone, Carlo; Giardina, Emiliano; Cascella, Raffaella; Strafella, Claudia | |
| The Genetics and the Genomics of Primary Congenital Glaucoma. | 1-gen-2015 | Cascella, R; Strafella, C; Germani, C; Novelli, G; Ricci, F; Zampatti, S; Giardina, E. | |
| Haplotypes in IL-8 Gene Are Associated to Age-Related Macular Degeneration: A Case-Control Study | 1-gen-2013 | Ricci, F; Staurenghi, G; Lepre, T; Missiroli, F; Zampatti, S; Cascella, R; Borgiani, P; Marsella, Lt; Eandi, Cm; Cusumano, A; Novelli, G; Giardina, E | |
| Full Sequencing of the FLG Gene in Italian Patients with Atopic Eczema: Evidence of New Mutations, but Lack of an Association | 1-gen-2011 | Cascella, R; Cuzzola, Vf; Lepre, T; Galli, E; Moschese, V; Chini, L; Mazzanti, C; Fortugno, P; Novelli, G; Giardina, E | |
| Absence of filaggrin mutation in a patient affected by pachyonychia congenita and mild atopic dermatitis | 1-gen-2014 | Terrinoni, A; Giardina, E; Pertusi, G; Cascella, R; Serra, V; Bornacina, C; Palombo, R; Tiberio, R; Gattoni, M; Novelli, G; Annicchiarico-Petruzzelli, M; Melino, G; Colombo, E | |
| Bilateral Retinal Angiomatous Proliferation in a Variant of Retinitis Pigmentosa | 1-gen-2019 | Aloe, G; De Sanctis, Cm; Strafella, C; Cascella, R; Missiroli, F; Cesareo, M; Giardina, E; Ricci, F. | |
| Analysis of ACE2 Genetic Variability among Populations Highlights a Possible Link with COVID-19-Related Neurological Complications | 1-gen-2020 | Strafella, C; Caputo, V; Termine, A; Barati, S; Gambardella, S; Borgiani, P; Caltagirone, C; Novelli, G; Giardina, E; Cascella, R | |
| Genetic counselling improves the molecular characterisation of dementing disorders | 1-gen-2021 | Zampatti, S; Ragazzo, M; Peconi, C; Luciano, S; Gambardella, S; Caputo, V; Strafella, C; Cascella, R; Caltagirone, C; Giardina, E | |
| Tracking the Initial Diffusion of SARS-CoV-2 Omicron Variant in Italy by RT-PCR and Comparison with Alpha and Delta Variants Spreading | 1-gen-2022 | Caputo, V; Calvino, G; Strafella, C; Termine, A; Fabrizio, C; Trastulli, G; Ingrascì, A; Peconi, C; Bardini, S; Rossini, A; Salvia, A; Borsellino, G; Battistini, L; Caltagirone, C; Cascella, R; Giardina, E | |
| Laryngopharyngeal reflux disease in adult patients: tears and pepsin | 1-gen-2020 | Magliulo, G; Pace, A; Plateroti, R; Plateroti, Am; Cascella, R; Solito, C; Rossetti, V; Iannella, G | |
| Digenic Inheritance of Shortened Repeat Units of the D4Z4 Region and a Loss-of-Function Variant in SMCHD1 in a Family With FSHD | 1-gen-2018 | Cascella, R; Strafella, C; Caputo, V; Galota, Rm; Errichiello, V; Scutifero, M; Petillo, R; Marella, Gl; Arcangeli, M; Colantoni, L; Zampatti, S; Ricci, E; Deidda, G; Politano, L; Giardina, E. | |
| The Interplay between miRNA-Related Variants and Age-Related Macular Degeneration: EVIDENCE of Association of MIR146A and MIR27A | 1-gen-2019 | Strafella, C; Errichiello, V; Caputo, V; Aloe, G; Ricci, F; Cusumano, A; Novelli, G; Giardina, E; Cascella, R | |
| Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations. | 1-gen-2016 | Cascella, R; Strafella, C; Gambardella, S; Longo, G; Borgiani, P; Sangiuolo, F; Novelli, G; Giardina, E.; Cascella, R; Strafella, C; Gambardella, S; Longo, G; Borgiani, P; Sangiuolo, F; Novelli, G; Giardina, E. | |
| The variability of SMCHD1 gene in FSHD patients: evidence of new mutations | 1-gen-2019 | Strafella, C; Caputo, V; Galota, Rm; Campoli, G; Bax, C; Colantoni, L; Minozzi, G; Orsini, C; Politano, L; Tasca, G; Novelli, G; Ricci, E; Giardina, E; Cascella, R | |
| Association of KIF3A, but not OVOL1 and ACTL9, with atopic eczema in Italian patients | 1-gen-2013 | Lepre, T; Cascella, R; Ragazzo, M; Galli, E; Novelli, G; Giardina, E | |
| Towards the application of precision medicine in Age-Related Macular Degeneration. | 1-gen-2018 | Cascella, R; Strafella, C; Caputo, V; Errichiello, V; Zampatti, S; Milano, F; Potenza, S; Mauriello, S; Novelli, G; Ricci, F; Cusumano, A; Giardina, E. | |
| Whole exome sequencing highlights rare variants in CTCF, DNMT1, DNMT3A, EZH2 and SUV39H1 as associated with FSHD | 1-gen-2023 | Strafella, Claudia; Caputo, Valerio; Bortolani, Sara; Torchia, Eleonora; Megalizzi, Domenica; Trastulli, Giulia; Monforte, Mauro; Colantoni, Luca; Caltagirone, Carlo; Ricci, Enzo; Tasca, Giorgio; Cascella, Raffaella; Giardina, Emiliano | |
| Limb-Girdle Muscular Dystrophies (LGMDs): The Clinical Application of NGS Analysis, a Family Case Report | 1-gen-2019 | Strafella, C; Campoli, G; Galota, Rm; Caputo, V; Pagliaroli, G; Carboni, S; Zampatti, S; Peconi, C; Mela, J; Sancricca, C; Primiano, G; Minozzi, G; Servidei, S; Cascella, R; Giardina, E. | |
| Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era | 1-gen-2019 | Zampatti, S; Colantoni, L; Strafella, C; Galota, Rm; Caputo, V; Campoli, G; Pagliaroli, G; Carboni, S; Mela, J; Peconi, C; Gambardella, S; Cascella, R; Giardina, E |
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