Sfoglia per Rivista GENES
A curious novel combination of nucleophosmin (Npm1) gene mutations leading to aberrant cytoplasmic dislocation of npm1 in acute myeloid leukemia (aml)
2021-01-01 Venanzi, A.; Rossi, R.; Martino, G.; Annibali, O.; Avvisati, G.; Mameli, M. G.; Sportoletti, P.; Tiacci, E.; Falini, B.; Martelli, M. P.
Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability
2023-01-01 Lintas, Carla; Facchiano, Angelo; Azzarà, Alessia; Cassano, Ilaria; Tabolacci, Claudio; Galasso, Cinzia; Gurrieri, Fiorella
DNA Methylation in the Diagnosis of Monogenic Diseases
2020-01-01 Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A
Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations
2022-01-01 Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella
Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer
2024-01-01 Lintas, Carla; Canalis, Benedetta; Azzarà, Alessia; Sabarese, Giovanna; Perrone, Giuseppe; Gurrieri, Fiorella
The genetic landscape of patent foramen ovale: A systematic review
2021-01-01 Paolucci, M.; Vincenzi, C.; Romoli, M.; Amico, G.; Ceccherini, I.; Lattanzi, S.; Bersano, A.; Longoni, M.; Sacco, S.; Vernieri, F.; Pascarella, R.; Valzania, F.; Zedde, M.
Mass Spectrometry Based-Proteomic Analysis of Anisakis spp.: A Preliminary Study towards a New Diagnostic Tool
2020-01-01 Marzano, V; Pane, S; Foglietta, G; Levi Mortera, S; Vernocchi, P; Onetti Muda, A; Putignani, L.
Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders
2023-01-01 Lintas, Carla; Cassano, Ilaria; Azzarà, Alessia; Stigliano, Maria Grazia; Gregorj, Chiara; Sacco, Roberto; Stoccoro, Andrea; Coppedè, Fabio; Gurrieri, Fiorella
Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants?
2023-01-01 Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella
Radiogenomic Features of GIMAP Family Genes in Clear Cell Renal Cell Carcinoma: An Observational Study on CT Images
2023-01-01 Greco, Federico; Panunzio, Andrea; Tafuri, Alessandro; Bernetti, Caterina; Pagliarulo, Vincenzo; Beomonte Zobel, Bruno; Scardapane, Arnaldo; Mallio, Carlo Augusto
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A curious novel combination of nucleophosmin (Npm1) gene mutations leading to aberrant cytoplasmic dislocation of npm1 in acute myeloid leukemia (aml) | 1-gen-2021 | Venanzi, A.; Rossi, R.; Martino, G.; Annibali, O.; Avvisati, G.; Mameli, M. G.; Sportoletti, P.; Tiacci, E.; Falini, B.; Martelli, M. P. | |
| Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability | 1-gen-2023 | Lintas, Carla; Facchiano, Angelo; Azzarà, Alessia; Cassano, Ilaria; Tabolacci, Claudio; Galasso, Cinzia; Gurrieri, Fiorella | |
| DNA Methylation in the Diagnosis of Monogenic Diseases | 1-gen-2020 | Cerrato, F; Sparago, A; Ariani, F; Brugnoletti, F; Calzari, L; Coppedè, F; De Luca, A; Gervasini, C; Giardina, E; Gurrieri, F; Lo Nigro, C; Merla, G; Miozzo, M; Russo, S; Sangiorgi, E; Sirchia, Sm; Squeo, Gm; Tabano, S; Tabolacci, E; Torrente, I; Genuardi, M; Neri, G; Riccio, A | |
| Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations | 1-gen-2022 | Lintas, Carla; Bottillo, Irene; Sacco, Roberto; Azzarà, Alessia; Cassano, Ilaria; Ciccone, Maria Pia; Grammatico, Paola; Gurrieri, Fiorella | |
| Exploring the Role of the MUTYH Gene in Breast, Ovarian and Endometrial Cancer | 1-gen-2024 | Lintas, Carla; Canalis, Benedetta; Azzarà, Alessia; Sabarese, Giovanna; Perrone, Giuseppe; Gurrieri, Fiorella | |
| The genetic landscape of patent foramen ovale: A systematic review | 1-gen-2021 | Paolucci, M.; Vincenzi, C.; Romoli, M.; Amico, G.; Ceccherini, I.; Lattanzi, S.; Bersano, A.; Longoni, M.; Sacco, S.; Vernieri, F.; Pascarella, R.; Valzania, F.; Zedde, M. | |
| Mass Spectrometry Based-Proteomic Analysis of Anisakis spp.: A Preliminary Study towards a New Diagnostic Tool | 1-gen-2020 | Marzano, V; Pane, S; Foglietta, G; Levi Mortera, S; Vernocchi, P; Onetti Muda, A; Putignani, L. | |
| Maternal Epigenetic Dysregulation as a Possible Risk Factor for Neurodevelopmental Disorders | 1-gen-2023 | Lintas, Carla; Cassano, Ilaria; Azzarà, Alessia; Stigliano, Maria Grazia; Gregorj, Chiara; Sacco, Roberto; Stoccoro, Andrea; Coppedè, Fabio; Gurrieri, Fiorella | |
| Melkersson-Rosenthal Syndrome and Migraine: A New Phenotype Associated with SCN1A Variants? | 1-gen-2023 | Azzarà, Alessia; Cassano, Ilaria; Lintas, Carla; Pilato, Fabio; Capone, Fioravante; Di Lazzaro, Vincenzo; Gurrieri, Fiorella | |
| Radiogenomic Features of GIMAP Family Genes in Clear Cell Renal Cell Carcinoma: An Observational Study on CT Images | 1-gen-2023 | Greco, Federico; Panunzio, Andrea; Tafuri, Alessandro; Bernetti, Caterina; Pagliarulo, Vincenzo; Beomonte Zobel, Bruno; Scardapane, Arnaldo; Mallio, Carlo Augusto |
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