Sfoglia per Rivista
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes
2022 D’Elia, Giovanna; Caliendo, Gemma; Tzioni, Maria-Myrsini; Albanese, Luisa; Passariello, Luana; Molinari, Anna Maria; Vietri, Maria Teresa
LINCking the Nuclear Envelope to Sperm Architecture
2021 Manfrevola, F; Guillou, F; Fasano, Silvia; Pierantoni, R; Chianese, R
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement
2021 Onore, Maria Elena; Torella, Annalaura; Musacchia, Francesco; D'Ambrosio, Paola; Zanobio, Mariateresa; Del Vecchio Blanco, Francesca; Piluso, Giulio; Nigro, Vincenzo
LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity
2023 Umano, Giuseppina Rosaria; Cirillo, Grazia; Rondinelli, Giulia; Sanchez, Gianmaria; Marzuillo, Pierluigi; Guarino, Stefano; Di Sessa, Anna; Papparella, Alfonso; Miraglia Del Giudice, Emanuele
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
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
Increased Risk of Hereditary Prostate Cancer in Italian Families with Hereditary Breast and Ovarian Cancer Syndrome Harboring Mutations in BRCA and in Other Susceptibility Genes | 1-gen-2022 | D’Elia, Giovanna; Caliendo, Gemma; Tzioni, Maria-Myrsini; Albanese, Luisa; Passariello, Luana; Molinari, Anna Maria; Vietri, Maria Teresa | |
LINCking the Nuclear Envelope to Sperm Architecture | 1-gen-2021 | Manfrevola, F; Guillou, F; Fasano, Silvia; Pierantoni, R; Chianese, R | |
Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement | 1-gen-2021 | Onore, Maria Elena; Torella, Annalaura; Musacchia, Francesco; D'Ambrosio, Paola; Zanobio, Mariateresa; Del Vecchio Blanco, Francesca; Piluso, Giulio; Nigro, Vincenzo | |
LSS rs2254524 Increases the Risk of Hypertension in Children and Adolescents with Obesity | 1-gen-2023 | Umano, Giuseppina Rosaria; Cirillo, Grazia; Rondinelli, Giulia; Sanchez, Gianmaria; Marzuillo, Pierluigi; Guarino, Stefano; Di Sessa, Anna; Papparella, Alfonso; Miraglia Del Giudice, Emanuele | |
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 |
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