Sfoglia per Rivista GENES
An Exploratory Application of Multilayer Networks and Pathway Analysis in Pharmacogenomics
2023-01-01 Milano, M.; Agapito, G.; Cannataro, M.
A familial form of epidermolysis bullosa simplex associated with a pathogenic variant in krt5
2021-01-01 Paduano, F.; Colao, E.; Grillone, T.; Vismara, M. F. M.; Amato, R.; Nistico, S.; Mignogna, C.; Dastoli, S.; Fabiani, F.; Zucco, R.; Trapasso, F.; Perrotti, N.; Iuliano, R.
Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy
2022-01-01 Paduano, Francesco; Colao, Emma; Fabiani, Fernanda; Rocca, Valentina; Dinatolo, Francesca; Dattola, Adele; D'Antona, Lucia; Amato, Rosario; Trapasso, Francesco; Baudi, Francesco; Perrotti, Nicola; Iuliano, Rodolfo
Human Genes Involved in the Interaction between Host and Gut Microbiome: Regulation and Pathogenic Mechanisms
2023-01-01 Boccuto, Luigi; Tack, Jan; Ianiro, Gianluca; Abenavoli, Ludovico; Scarpellini, Emidio
Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort
2023-01-01 De Paolis, Elisa; Tilocca, Bruno; Lombardi, Carla; De Bonis, Maria; Concolino, Paola; Onori, Maria Elisabetta; Ricciardi Tenore, Claudio; Perrucci, Alessia; Roncada, Paola; Capoluongo, Ettore; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome
2024-01-01 Politi, Cristina; Grillone, Katia; Nocera, Donatella; Colao, Emma; Bellisario, Michelle Li; Loddo, Sara; Catino, Giorgia; Novelli, Antonio; Perrotti, Nicola; Iuliano, Rodolfo; Malatesta, Paola
A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions
2021-01-01 Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R.
Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors
2022-01-01 Boccuto, Luigi; Mitz, Andrew; Abenavoli, Ludovico; Sara, M Sarasua; Bennett, William; Rogers, Curtis; Dupont, Barbara; Phelan, Katy
Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future
2024-01-01 Janda, Elzbieta; Boutin, Jean A.; DE LORENZO, Carlo; Arbitrio, Mariamena
A Python Clustering Analysis Protocol of Genes Expression Data Sets
2022-01-01 Agapito, Giuseppe; Milano, Marianna; Cannataro, Mario
Spotlight on a Short-Time Treatment with the IL-4/IL-13 Receptor Blocker in Patients with CRSwNP: microRNAs Modulations and Preliminary Clinical Evidence
2022-01-01 Mimmi, Selena; Lombardo, Nicola; Maisano, Domenico; Piazzetta, Giovanna; Pelaia, Corrado; Pelaia, Girolamo; Greco, Marta; Foti, Daniela; Dattilo, Vincenzo; Iaccino, Enrico
Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures
2024-01-01 Procopio, R.; Gagliardi, M.; Talarico, M.; Fortunato, F.; Sammarra, I.; Procopio, A. C.; Roncada, P.; Malanga, D.; Annesi, G.; Gambardella, A.
The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults
2022-01-01 Zagari, Maria Carmela; Chiarello, Paola; Iuliano, Stefano; D'Antona, Lucia; Rocca, Valentina; Colao, Emma; Perrotti, Nicola; Greco, Francesca; Iuliano, Rodolfo; Aversa, Antonio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| An Exploratory Application of Multilayer Networks and Pathway Analysis in Pharmacogenomics | 1-gen-2023 | Milano, M.; Agapito, G.; Cannataro, M. | |
| A familial form of epidermolysis bullosa simplex associated with a pathogenic variant in krt5 | 1-gen-2021 | Paduano, F.; Colao, E.; Grillone, T.; Vismara, M. F. M.; Amato, R.; Nistico, S.; Mignogna, C.; Dastoli, S.; Fabiani, F.; Zucco, R.; Trapasso, F.; Perrotti, N.; Iuliano, R. | |
| Germline Testing in a Cohort of Patients at High Risk of Hereditary Cancer Predisposition Syndromes: First Two-Year Results from South Italy | 1-gen-2022 | Paduano, Francesco; Colao, Emma; Fabiani, Fernanda; Rocca, Valentina; Dinatolo, Francesca; Dattola, Adele; D'Antona, Lucia; Amato, Rosario; Trapasso, Francesco; Baudi, Francesco; Perrotti, Nicola; Iuliano, Rodolfo | |
| Human Genes Involved in the Interaction between Host and Gut Microbiome: Regulation and Pathogenic Mechanisms | 1-gen-2023 | Boccuto, Luigi; Tack, Jan; Ianiro, Gianluca; Abenavoli, Ludovico; Scarpellini, Emidio | |
| Next-Generation Sequencing for Screening Analysis of Cystic Fibrosis: Spectrum and Novel Variants in a South-Central Italian Cohort | 1-gen-2023 | De Paolis, Elisa; Tilocca, Bruno; Lombardi, Carla; De Bonis, Maria; Concolino, Paola; Onori, Maria Elisabetta; Ricciardi Tenore, Claudio; Perrucci, Alessia; Roncada, Paola; Capoluongo, Ettore; Urbani, Andrea; Minucci, Angelo; Santonocito, Concetta | |
| Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome | 1-gen-2024 | Politi, Cristina; Grillone, Katia; Nocera, Donatella; Colao, Emma; Bellisario, Michelle Li; Loddo, Sara; Catino, Giorgia; Novelli, Antonio; Perrotti, Nicola; Iuliano, Rodolfo; Malatesta, Paola | |
| A novel splicing variant of col2a1 in a fetus with achondrogenesis type ii: Interpretation of pathogenicity of in-frame deletions | 1-gen-2021 | Bruni, V.; Spoleti, C. B.; La Barbera, A.; Dattilo, V.; Colao, E.; Votino, C.; Bellacchio, E.; Perrotti, N.; Giglio, S.; Iuliano, R. | |
| Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors | 1-gen-2022 | Boccuto, Luigi; Mitz, Andrew; Abenavoli, Ludovico; Sara, M Sarasua; Bennett, William; Rogers, Curtis; Dupont, Barbara; Phelan, Katy | |
| Polymorphisms and Pharmacogenomics of NQO2: The Past and the Future | 1-gen-2024 | Janda, Elzbieta; Boutin, Jean A.; DE LORENZO, Carlo; Arbitrio, Mariamena | |
| A Python Clustering Analysis Protocol of Genes Expression Data Sets | 1-gen-2022 | Agapito, Giuseppe; Milano, Marianna; Cannataro, Mario | |
| Spotlight on a Short-Time Treatment with the IL-4/IL-13 Receptor Blocker in Patients with CRSwNP: microRNAs Modulations and Preliminary Clinical Evidence | 1-gen-2022 | Mimmi, Selena; Lombardo, Nicola; Maisano, Domenico; Piazzetta, Giovanna; Pelaia, Corrado; Pelaia, Girolamo; Greco, Marta; Foti, Daniela; Dattilo, Vincenzo; Iaccino, Enrico | |
| Two Novel Variants in the CHRNA2 and SCN2A Genes in Italian Patients with Febrile Seizures | 1-gen-2024 | Procopio, R.; Gagliardi, M.; Talarico, M.; Fortunato, F.; Sammarra, I.; Procopio, A. C.; Roncada, P.; Malanga, D.; Annesi, G.; Gambardella, A. | |
| The Variant p.Ala84Pro Is Causative of X-Linked Hypophosphatemic Rickets: Possible Relationship with Burosumab Swinging Response in Adults | 1-gen-2022 | Zagari, Maria Carmela; Chiarello, Paola; Iuliano, Stefano; D'Antona, Lucia; Rocca, Valentina; Colao, Emma; Perrotti, Nicola; Greco, Francesca; Iuliano, Rodolfo; Aversa, Antonio |
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