Sfoglia per Rivista GENES
Actionable Genomics in Clinical Practice: Paradigmatic Case Reports of Clinical and Therapeutic Strategies Based upon Genetic Testing
2022 Butler, M. G.; Moreno-De-luca, D.; Persico, A.
Alternative splicing of transcription factors genes in muscle physiology and pathology
2018 Imbriano, Carol; Molinari, Susanna
Behind the scene: Exploiting mc1r in skin cancer risk and prevention
2021 Manganelli, M.; Guida, S.; Ferretta, A.; Pellacani, G.; Porcelli, L.; Azzariti, A.; Guida, G.
Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features
2022 Pedroni, Monica; Ponz de Leon, Maurizio; Reggiani Bonetti, Luca; Rossi, Giuseppina; Viel, Alessandra; Urso, Emanuele Damiano Luca; Roncucci, Luca
Characterization of new ATM deletion associated with hereditary breast cancer
2021 Parenti, S.; Rabacchi, C.; Marino, M.; Tenedini, E.; Artuso, L.; Castellano, S.; Carretta, C.; Mallia, S.; Cortesi, L.; Toss, A.; Barbieri, E.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E.
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers
2021 Toss, Angela; Tenedini, Elena; Piombino, Claudia; Venturelli, Marta; Marchi, Isabella; Gasparini, Elisa; Barbieri, Elena; Razzaboni, Elisabetta; Domati, Federica; Caggia, Federica; Grandi, Giovanni; Combi, Francesca; Tazzioli, Giovanni; Dominici, Massimo; Tagliafico, Enrico; Cortesi, Laura
Developing Gene-Based Personalised Interventions in Autism Spectrum Disorders
2022 Freitag, C. M.; Persico, A; Vorstman, J. A. S.
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature
2023 Trevisani, V.; Balestri, E.; Napoli, M.; Caraffi, S. G.; Baroni, M. C.; Peluso, F.; Colonna, A.; Iughetti, L.; Gargano, G.; Superti-Furga, A.; Garavelli, L.
Does DNA Methylation Matter in FSHD?
2020 Salsi, Valentina; Magdinier, Frédérique; Tupler, Rossella
Exploring the Role of Cell-Free Nucleic Acids and Peritoneal Dialysis: A Narrative Review
2024 Morisi, N.; Virzì, G. M.; Ferrarini, M.; Alfano, G.; Zanella, M.; Ronco, C.; Donati, G.
From Genes to Therapy in Autism Spectrum Disorder
2022 Vorstman, J. A. S.; Freitag, C. M.; Persico, A
Genetic Variants of Gonadotropins and Their Receptors Could Influence Controlled Ovarian Stimulation: IVF Data from a Prospective Multicenter Study
2023 Alviggi, Carlo; Longobardi, Salvatore; Papaleo, Enrico; Santi, Daniele; Alfano, Simona; Vanni, Valeria Stella; Campitiello, Maria Rosaria; De Rosa, Pasquale; Strina, Ida; Huhtaniemi, Ilpo; Pursiheimo, Juha-Pekka; D'Hooghe, Thomas; Humaidan, Peter; Conforti, Alessandro
Genome-wide analysis of alpharetroviral integration in human hematopoietic stem/progenitor cells
2014 Moiani, Arianna; Suerth, Julia Debora; Gandolfi, Francesco; Rizzi, Ermanno; Severgnini, Marco; De Bellis, Gianluca; Schambach, Axel; Mavilio, Fulvio
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family
2023 Concolino, P.; De Paolis, E.; Moffa, S.; Onori, M. E.; Soldovieri, L.; Ricciardi Tenore, C.; De Bonis, M.; Rabacchi, C.; Santonocito, C.; Rinelli, M.; Calandra, S.; Giaccari, A.; Urbani, A.; Minucci, A.
Integration of bioinformatic predictions and experimental data to identify circRNA-miRNA associations
2019 Dori, M.; Bicciato, S.
Ivar, an interpretation‐oriented tool to manage the update and revision of variant annotation and classification
2021 Castellano, S.; Cestari, F.; Faglioni, G.; Tenedini, E.; Marino, M.; Artuso, L.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E.
miRNAs Copy Number Variations Repertoire as Hallmark Indicator of Cancer Species Predisposition
2022 Vischioni, Chiara; Bove, Fabio; De Chiara, Matteo; Mandreoli, Federica; Martoglia, Riccardo; Pisi, Valentino; Liti, Gianni; Taccioli, Cristian
More Rule than Exception: Parallel Evidence of Ancient Migrations in Grammars and Genomes of Finno-Ugric Speakers
2020 Santos, Patrícia; Gonzàlez-Fortes, Gloria; Trucchi, Emiliano; Ceolin, Andrea; Cordoni, Guido; Guardiano, Cristina; Longobardi, Giuseppe; Barbujani, Guido
Personalized Systemic Therapies in Hereditary Cancer Syndromes
2023 Mastrodomenico, L.; Piombino, C.; Ricco, B.; Barbieri, E.; Venturelli, M.; Piacentini, F.; Dominici, M.; Cortesi, L.; Toss, A.
Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study
2025 Ghezzi, Andrea; Gianferrari, Giulia; Baldassarri, Elisa; Zucchi, Elisabetta; Martinelli, Ilaria; Vacchiano, Veria; Bonan, Luigi; Zinno, Lucia; Nuredini, Andi; Canali, Elena; Gizzi, Matteo; Terlizzi, Emilio; Medici, Doriana; Sette, Elisabetta; Currò Dossi, Marco; Morresi, Simonetta; Santangelo, Mario; Patuelli, Alberto; Longoni, Marco; De Massis, Patrizia; Ferro, Salvatore; Fini, Nicola; Simonini, Cecilia; Carra, Serena; Zamboni, Giovanna; Mandrioli, Jessica
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Actionable Genomics in Clinical Practice: Paradigmatic Case Reports of Clinical and Therapeutic Strategies Based upon Genetic Testing | 1-gen-2022 | Butler, M. G.; Moreno-De-luca, D.; Persico, A. | |
Alternative splicing of transcription factors genes in muscle physiology and pathology | 1-gen-2018 | Imbriano, Carol; Molinari, Susanna | |
Behind the scene: Exploiting mc1r in skin cancer risk and prevention | 1-gen-2021 | Manganelli, M.; Guida, S.; Ferretta, A.; Pellacani, G.; Porcelli, L.; Azzariti, A.; Guida, G. | |
Biallelic PMS2 Mutations in a Family with Uncommon Clinical and Molecular Features | 1-gen-2022 | Pedroni, Monica; Ponz de Leon, Maurizio; Reggiani Bonetti, Luca; Rossi, Giuseppina; Viel, Alessandra; Urso, Emanuele Damiano Luca; Roncucci, Luca | |
Characterization of new ATM deletion associated with hereditary breast cancer | 1-gen-2021 | Parenti, S.; Rabacchi, C.; Marino, M.; Tenedini, E.; Artuso, L.; Castellano, S.; Carretta, C.; Mallia, S.; Cortesi, L.; Toss, A.; Barbieri, E.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E. | |
Clinicopathologic Profile of Breast Cancer in Germline ATM and CHEK2 Mutation Carriers | 1-gen-2021 | Toss, Angela; Tenedini, Elena; Piombino, Claudia; Venturelli, Marta; Marchi, Isabella; Gasparini, Elisa; Barbieri, Elena; Razzaboni, Elisabetta; Domati, Federica; Caggia, Federica; Grandi, Giovanni; Combi, Francesca; Tazzioli, Giovanni; Dominici, Massimo; Tagliafico, Enrico; Cortesi, Laura | |
Developing Gene-Based Personalised Interventions in Autism Spectrum Disorders | 1-gen-2022 | Freitag, C. M.; Persico, A; Vorstman, J. A. S. | |
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature | 1-gen-2023 | Trevisani, V.; Balestri, E.; Napoli, M.; Caraffi, S. G.; Baroni, M. C.; Peluso, F.; Colonna, A.; Iughetti, L.; Gargano, G.; Superti-Furga, A.; Garavelli, L. | |
Does DNA Methylation Matter in FSHD? | 1-gen-2020 | Salsi, Valentina; Magdinier, Frédérique; Tupler, Rossella | |
Exploring the Role of Cell-Free Nucleic Acids and Peritoneal Dialysis: A Narrative Review | 1-gen-2024 | Morisi, N.; Virzì, G. M.; Ferrarini, M.; Alfano, G.; Zanella, M.; Ronco, C.; Donati, G. | |
From Genes to Therapy in Autism Spectrum Disorder | 1-gen-2022 | Vorstman, J. A. S.; Freitag, C. M.; Persico, A | |
Genetic Variants of Gonadotropins and Their Receptors Could Influence Controlled Ovarian Stimulation: IVF Data from a Prospective Multicenter Study | 1-gen-2023 | Alviggi, Carlo; Longobardi, Salvatore; Papaleo, Enrico; Santi, Daniele; Alfano, Simona; Vanni, Valeria Stella; Campitiello, Maria Rosaria; De Rosa, Pasquale; Strina, Ida; Huhtaniemi, Ilpo; Pursiheimo, Juha-Pekka; D'Hooghe, Thomas; Humaidan, Peter; Conforti, Alessandro | |
Genome-wide analysis of alpharetroviral integration in human hematopoietic stem/progenitor cells | 1-gen-2014 | Moiani, Arianna; Suerth, Julia Debora; Gandolfi, Francesco; Rizzi, Ermanno; Severgnini, Marco; De Bellis, Gianluca; Schambach, Axel; Mavilio, Fulvio | |
Identification and Molecular Characterization of a Novel Large-Scale Variant (Exons 4_18 Loss) in the LDLR Gene as a Cause of Familial Hypercholesterolaemia in an Italian Family | 1-gen-2023 | Concolino, P.; De Paolis, E.; Moffa, S.; Onori, M. E.; Soldovieri, L.; Ricciardi Tenore, C.; De Bonis, M.; Rabacchi, C.; Santonocito, C.; Rinelli, M.; Calandra, S.; Giaccari, A.; Urbani, A.; Minucci, A. | |
Integration of bioinformatic predictions and experimental data to identify circRNA-miRNA associations | 1-gen-2019 | Dori, M.; Bicciato, S. | |
Ivar, an interpretation‐oriented tool to manage the update and revision of variant annotation and classification | 1-gen-2021 | Castellano, S.; Cestari, F.; Faglioni, G.; Tenedini, E.; Marino, M.; Artuso, L.; Manfredini, R.; Luppi, M.; Trenti, T.; Tagliafico, E. | |
miRNAs Copy Number Variations Repertoire as Hallmark Indicator of Cancer Species Predisposition | 1-gen-2022 | Vischioni, Chiara; Bove, Fabio; De Chiara, Matteo; Mandreoli, Federica; Martoglia, Riccardo; Pisi, Valentino; Liti, Gianni; Taccioli, Cristian | |
More Rule than Exception: Parallel Evidence of Ancient Migrations in Grammars and Genomes of Finno-Ugric Speakers | 1-gen-2020 | Santos, Patrícia; Gonzàlez-Fortes, Gloria; Trucchi, Emiliano; Ceolin, Andrea; Cordoni, Guido; Guardiano, Cristina; Longobardi, Giuseppe; Barbujani, Guido | |
Personalized Systemic Therapies in Hereditary Cancer Syndromes | 1-gen-2023 | Mastrodomenico, L.; Piombino, C.; Ricco, B.; Barbieri, E.; Venturelli, M.; Piacentini, F.; Dominici, M.; Cortesi, L.; Toss, A. | |
Phenotypical Characterization of C9ALS Patients from the Emilia Romagna Registry of ALS: A Retrospective Case–Control Study | 1-gen-2025 | Ghezzi, Andrea; Gianferrari, Giulia; Baldassarri, Elisa; Zucchi, Elisabetta; Martinelli, Ilaria; Vacchiano, Veria; Bonan, Luigi; Zinno, Lucia; Nuredini, Andi; Canali, Elena; Gizzi, Matteo; Terlizzi, Emilio; Medici, Doriana; Sette, Elisabetta; Currò Dossi, Marco; Morresi, Simonetta; Santangelo, Mario; Patuelli, Alberto; Longoni, Marco; De Massis, Patrizia; Ferro, Salvatore; Fini, Nicola; Simonini, Cecilia; Carra, Serena; Zamboni, Giovanna; Mandrioli, Jessica |
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