Sfoglia per Rivista GENES
Machine learning and bioinformatics framework integration to potential familial dcm-related markers discovery
2021 Schiano, C.; Franzese, M.; Geraci, F.; Zanfardino, M.; Maiello, C.; Palmieri, V.; Soricelli, A.; Grimaldi, V.; Coscioni, E.; Salvatore, M.; Napoli, C.
Male Reproduction: Regulation, Differentiation and Epigenetics
2022 Venditti, Massimo; Minucci, Sergio
Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription
2021 Fioretti, Tiziana; Di Iorio, Valentina; Lombardo, Barbara; De Falco, Francesca; Cevenini, Armando; Cattaneo, Fabio; Testa, Francesco; Pastore, Lucio; Simonelli, Francesca; Esposito, Gabriella
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases
2023 Nigro, Ersilia; Amicone, Maria; D'Arco, Daniela; Sellitti, Gina; De Marco, Oriana; Guarino, Maria; Riccio, Eleonora; Pisani, Antonio; Daniele, Aurora
Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome
2021 Pignata, L.; Sparago, A.; Palumbo, O.; Andreucci, E.; Lapi, E.; Tenconi, R.; Carella, M.; Riccio, A.; Cerrato, F.
Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement
2021 Vaisfeld, A; Bruno, G; Petracca, M; Bentivoglio, Ar; Servidei, S; Vita, Mg; Bove, F; Straccia, G; Dato, C; Di Iorio, G; Sampaolo, S; Peluso, S; De Rosa, A; De Michele, G; Barghigiani, M; Galatolo, D; Tessa, A; Santorelli, F; Chiurazzi, P; Melone, Mab.
New cross-talk layer between ultraconserved non-coding RNAs, microRNAs and polycomb protein YY1 in bladder cancer
2016 Terreri, Sara; Durso, Montano; Colonna, Vincenza; Romanelli, Alessandra; Terracciano, Daniela; Ferro, Matteo; Perdonà, Sisto; Castaldo, Luigi; Febbraio, Ferdinando; de NIGRIS, Filomena; Cimmino, Amelia
Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies
2023 Zacchia, Miriam; Capolongo, Giovanna; Del Vecchio Blanco, Francesca; Secondulfo, Floriana; Gupta, Neha; Blasio, Giancarlo; Pollastro, Rosa Maria; Cervesato, Angela; Piluso, Giulio; Gigliotti, Giuseppe; Torella, Annalaura; Nigro, Vincenzo; Perna, Alessandra F; Capasso, Giovambattista; Trepiccione, Francesco
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect
2023 Fontana, Paolo; Budillon, Alberto; Simeone, Domenico; Del Vecchio Blanco, Francesca; Caiazza, Martina; D'Amico, Alessandra; Lonardo, Fortunato; Nigro, Vincenzo; Limongelli, Giuseppe; Scarano, Gioacchino
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation
2022 Vietri, M. T.; D'Elia, G.; Caliendo, G.; Albanese, L.; Signoriello, G.; Napoli, C.; Molinari, A. M.
Possible Effects of Uremic Toxins p-Cresol, Indoxyl Sulfate, p-Cresyl Sulfate on the Development and Progression of Colon Cancer in Patients with Chronic Renal Failure
2023 Di Paola, Rossella; De, Ananya; Izhar, Raafiah; Abate, Marianna; Zappavigna, Silvia; Capasso, Anna; Perna, Alessandra F; La Russa, Antonella; Capasso, Giovambattista; Caraglia, Michele; Simeoni, Mariadelina
The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution
2022 Palladino, Alberto; Papa, Andrea Antonio; Petillo, Roberta; Scutifero, Marianna; Morra, Salvatore; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation
2022 Lioncino, M.; Fusco, A.; Monda, E.; Colonna, D.; Sibilio, M.; Caiazza, M.; Magri, D.; Borrelli, A. C.; D'Onofrio, B.; Mazzella, M. L.; Colantuono, R.; Arienzo, M. R.; Sarubbi, B.; Russo, M. G.; Chello, G.; Limongelli, G.
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review
2023 Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silván, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sánchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Martin Mesa, Carmen; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Domínguez; Seidel, Veronica; Suárez, Julia; Cormier-Daire, Valerie; Consortium, The Sogri; Nevado, Julián; Lapunzina, Pablo
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy
2023 Viggiano, Emanuela; Picillo, Esther; Passamano, Luigia; Onore, Maria Elena; Piluso, Giulio; Scutifero, Marianna; Torella, Annalaura; Nigro, Vincenzo; Politano, Luisa
Stroke and Etiopathogenesis: What Is Known?
2022 Ciarambino, Tiziana; Crispino, Pietro; Mastrolorenzo, Erika; Viceconti, Antonello; Giordano, Mauro
Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage
2021 Musacchia, F.; Karali, M.; Torella, A.; Laurie, S.; Policastro, V.; Pizzo, M.; Beltran, S.; Casari, G.; Nigro, V.; Banfi, S.
Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c
2021 Sparago, A.; Cerrato, F.; Pignata, L.; Cammarata-Scalisi, F.; Garavelli, L.; Piscopo, C.; Vancini, A.; Riccio, A.
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
2019 Viggiano, E; Madej-Pilarczyk, A; Carboni, N; Picillo, E; Ergoli, M; Gaudio, Sd; Marchel, M; Nigro, G; Palladino, A; Politano, L.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Machine learning and bioinformatics framework integration to potential familial dcm-related markers discovery | 1-gen-2021 | Schiano, C.; Franzese, M.; Geraci, F.; Zanfardino, M.; Maiello, C.; Palmieri, V.; Soricelli, A.; Grimaldi, V.; Coscioni, E.; Salvatore, M.; Napoli, C. | |
| Male Reproduction: Regulation, Differentiation and Epigenetics | 1-gen-2022 | Venditti, Massimo; Minucci, Sergio | |
| Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription | 1-gen-2021 | Fioretti, Tiziana; Di Iorio, Valentina; Lombardo, Barbara; De Falco, Francesca; Cevenini, Armando; Cattaneo, Fabio; Testa, Francesco; Pastore, Lucio; Simonelli, Francesca; Esposito, Gabriella | |
| Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases | 1-gen-2023 | Nigro, Ersilia; Amicone, Maria; D'Arco, Daniela; Sellitti, Gina; De Marco, Oriana; Guarino, Maria; Riccio, Eleonora; Pisani, Antonio; Daniele, Aurora | |
| Mosaic segmental and whole-chromosome upd(11)mat in silver-russell syndrome | 1-gen-2021 | Pignata, L.; Sparago, A.; Palumbo, O.; Andreucci, E.; Lapi, E.; Tenconi, R.; Carella, M.; Riccio, A.; Cerrato, F. | |
| Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement | 1-gen-2021 | Vaisfeld, A; Bruno, G; Petracca, M; Bentivoglio, Ar; Servidei, S; Vita, Mg; Bove, F; Straccia, G; Dato, C; Di Iorio, G; Sampaolo, S; Peluso, S; De Rosa, A; De Michele, G; Barghigiani, M; Galatolo, D; Tessa, A; Santorelli, F; Chiurazzi, P; Melone, Mab. | |
| New cross-talk layer between ultraconserved non-coding RNAs, microRNAs and polycomb protein YY1 in bladder cancer | 1-gen-2016 | Terreri, Sara; Durso, Montano; Colonna, Vincenza; Romanelli, Alessandra; Terracciano, Daniela; Ferro, Matteo; Perdonà, Sisto; Castaldo, Luigi; Febbraio, Ferdinando; de NIGRIS, Filomena; Cimmino, Amelia | |
| Next-Generation Sequencing (NGS) Analysis Illustrates the Phenotypic Variability of Collagen Type IV Nephropathies | 1-gen-2023 | Zacchia, Miriam; Capolongo, Giovanna; Del Vecchio Blanco, Francesca; Secondulfo, Floriana; Gupta, Neha; Blasio, Giancarlo; Pollastro, Rosa Maria; Cervesato, Angela; Piluso, Giulio; Gigliotti, Giuseppe; Torella, Annalaura; Nigro, Vincenzo; Perna, Alessandra F; Capasso, Giovambattista; Trepiccione, Francesco | |
| A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect | 1-gen-2023 | Fontana, Paolo; Budillon, Alberto; Simeone, Domenico; Del Vecchio Blanco, Francesca; Caiazza, Martina; D'Amico, Alessandra; Lonardo, Fortunato; Nigro, Vincenzo; Limongelli, Giuseppe; Scarano, Gioacchino | |
| Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation | 1-gen-2022 | Vietri, M. T.; D'Elia, G.; Caliendo, G.; Albanese, L.; Signoriello, G.; Napoli, C.; Molinari, A. M. | |
| Possible Effects of Uremic Toxins p-Cresol, Indoxyl Sulfate, p-Cresyl Sulfate on the Development and Progression of Colon Cancer in Patients with Chronic Renal Failure | 1-gen-2023 | Di Paola, Rossella; De, Ananya; Izhar, Raafiah; Abate, Marianna; Zappavigna, Silvia; Capasso, Anna; Perna, Alessandra F; La Russa, Antonella; Capasso, Giovambattista; Caraglia, Michele; Simeoni, Mariadelina | |
| The Role of TRPM4 Gene Mutations in Causing Familial Progressive Cardiac Conduction Disease: A Further Contribution | 1-gen-2022 | Palladino, Alberto; Papa, Andrea Antonio; Petillo, Roberta; Scutifero, Marianna; Morra, Salvatore; Passamano, Luigia; Nigro, Vincenzo; Politano, Luisa | |
| Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation | 1-gen-2022 | Lioncino, M.; Fusco, A.; Monda, E.; Colonna, D.; Sibilio, M.; Caiazza, M.; Magri, D.; Borrelli, A. C.; D'Onofrio, B.; Mazzella, M. L.; Colantuono, R.; Arienzo, M. R.; Sarubbi, B.; Russo, M. G.; Chello, G.; Limongelli, G. | |
| Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review | 1-gen-2023 | Pascual, Patricia; Tenorio-Castano, Jair; Mignot, Cyril; Afenjar, Alexandra; Arias, Pedro; Gallego-Zazo, Natalia; Parra, Alejandro; Miranda, Lucia; Cazalla, Mario; Silván, Cristina; Heron, Delphine; Keren, Boris; Popa, Ioana; Palomares, María; Rikeros, Emi; Ramos, Feliciano J; Almoguera, Berta; Ayuso, Carmen; Swafiri, Saoud Tahsin; Barbero, Ana Isabel Sánchez; Srinivasan, Varunvenkat M; Gowda, Vykuntaraju K; Morleo, Manuela; Nigro, Vicenzo; D'Arrigo, Stefano; Ciaccio, Claudia; Martin Mesa, Carmen; Paumard, Beatriz; Guillen, Gema; Anton, Ana Teresa Serrano; Jimenez, Marta Domínguez; Seidel, Veronica; Suárez, Julia; Cormier-Daire, Valerie; Consortium, The Sogri; Nevado, Julián; Lapunzina, Pablo | |
| Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy | 1-gen-2023 | Viggiano, Emanuela; Picillo, Esther; Passamano, Luigia; Onore, Maria Elena; Piluso, Giulio; Scutifero, Marianna; Torella, Annalaura; Nigro, Vincenzo; Politano, Luisa | |
| Stroke and Etiopathogenesis: What Is Known? | 1-gen-2022 | Ciarambino, Tiziana; Crispino, Pietro; Mastrolorenzo, Erika; Viceconti, Antonello; Giordano, Mauro | |
| Vargenius-hzd allows accurate detection of rare homozygous or hemizygous deletions in targeted sequencing leveraging breadth of coverage | 1-gen-2021 | Musacchia, F.; Karali, M.; Torella, A.; Laurie, S.; Policastro, V.; Pizzo, M.; Beltran, S.; Casari, G.; Nigro, V.; Banfi, S. | |
| Variable expressivity of the beckwith-wiedemann syndrome in four pedigrees segregating loss-of-function variants of cdkn1c | 1-gen-2021 | Sparago, A.; Cerrato, F.; Pignata, L.; Cammarata-Scalisi, F.; Garavelli, L.; Piscopo, C.; Vancini, A.; Riccio, A. | |
| X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers. | 1-gen-2019 | Viggiano, E; Madej-Pilarczyk, A; Carboni, N; Picillo, E; Ergoli, M; Gaudio, Sd; Marchel, M; Nigro, G; Palladino, A; Politano, L. |
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