Sfoglia per Rivista GENES
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 |
|---|---|---|---|
| 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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