MARTORANA, DAVIDE
MARTORANA, DAVIDE
A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis
2018-01-01 Martorana, D; Márquez, A; Carmona, Fd; Bonatti, F; Adorni, A; Urban, Ml; Maritati, F; Accorsi Buttini, E; Marvisi, C; Palmisano, A; Rossi, Gm; Trivioli, G; Fenaroli, P; Manenti, L; Nicastro, M; Incerti, M; Gianfreda, D; Bani, Stefano; Ferretti, S; Corradi, D; Alberici, F; Emmi, G; Di Scala, G; Moroni, G; Percesepe, A; Scheel PJ, Jr; Vermeer, E; van Bommel, Ef; Martín, J; Vaglio, A.
A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever
2019-01-01 Farjadian, S.; Bonatti, F.; Soriano, A.; Reina, M.; Adorni, A.; Graziano, C.; Moghtaderi, M.; Percesepe, A.; Romeo, G.; Martorana, D.
ANCA-Associated Vasculitis
2019-01-01 Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D.
Clinical and genetic findings in a series of eight families with arthrogryposis
2022-01-01 Pollazzon, M.; Caraffi, S. G.; Faccioli, S.; Rosato, S.; Fodstad, H.; Campos-Xavier, B.; Soncini, E.; Comitini, G.; Frattini, D.; Grimaldi, T.; Marinelli, M.; Martorana, D.; Percesepe, A.; Sassi, S.; Fusco, C.; Gargano, G.; Superti-Furga, A.; Garavelli, L.
Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study
2021-01-01 Marina, M; Zatelli, M C; Goldoni, M; Del Rio, P; Corcione, L; Martorana, D; Percesepe, A; Bonatti, F; Mozzoni, P; Crociara, A; Ceresini, G
Combined genetic variants of human cytomegalovirus envelope glycoproteins as congenital infection markers
2015-01-01 Arcangeletti, Maria Cristina; VASILE SIMONE, Rosita; Rodighiero, Isabella; DE CONTO, Flora; Medici, Maria Cristina; Martorana, Davide; Chezzi, Carlo; Calderaro, Adriana
Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes
2018-01-01 Bonatti, F.; Adorni, A.; Percesepe, A.; Martorana, D.
F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study
2017-01-01 Quintavalle, Gabriele; Riccardi, Federica; Rivolta, Gianna Franca; Martorana, Davide; DI PERNA, Caterina; Percesepe, Antonio; Tagliaferri, Annarita
Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing
2024-01-01 Barili, Valeria; Ambrosini, Enrico; Bortesi, Beatrice; Minari, Roberta; De Sensi, Erika; Cannizzaro, Ilenia Rita; Taiani, Antonietta; Michiara, Maria; Sikokis, Angelica; Boggiani, Daniela; Tommasi, Chiara; Serra, Olga; Bonatti, Francesco; Adorni, Alessia; Luberto, Anita; Caggiati, Patrizia; Martorana, Davide; Uliana, Vera; Percesepe, Antonio; Musolino, Antonino; Pellegrino, Benedetta
Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations
2017-01-01 Martorana, Davide; Bonatti, Francesco; Mozzoni, Paola; Vaglio, Augusto; Percesepe, Antonio
Neurofibromatosis type I and multiple myeloma coexistence: A possible link?
2018-01-01 Accardi, Fabrizio; Marchica, Valentina; Mancini, Cristina; Maredi, Elena; Racano, Costantina; Notarfranchi, Laura; Martorana, Davide; Storti, Paola; Martella, Eugenia; Palma, Benedetta Dalla; Craviotto, Luisa; de Filippo, Massimo; Percesepe, Antonio; Aversa, Franco; Giuliani, Nicola
Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I
2017-01-01 Bonatti, Francesco; Adorni, Alessia; Matichecchia, Annalisa; Mozzoni, Paola; Uliana, Vera; Pisani, Francesco; Garavelli, Livia; Graziano, Claudio; Gnoli, Maria; Carli, Diana; Bigoni, Stefania; Boschi, Elena; Martorana, Davide; Percesepe, Antonio
Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I
2022-01-01 Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio
Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene
2019-01-01 Uliana, Vera; Bonatti, Francesco; Zanatta, Valentina; Mozzoni, Paola; Martorana, Davide; Percesepe, Antonio
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
2023-01-01 Barili, V.; Ambrosini, E.; Uliana, V.; Bellini, M.; Vitetta, G.; Martorana, D.; Cannizzaro, I. R.; Taiani, A.; De Sensi, E.; Caggiati, P.; Hilton, S.; Banka, S.; Percesepe, A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A large-scale genetic analysis reveals an autoimmune origin of idiopathic retroperitoneal fibrosis | 1-gen-2018 | Martorana, D; Márquez, A; Carmona, Fd; Bonatti, F; Adorni, A; Urban, Ml; Maritati, F; Accorsi Buttini, E; Marvisi, C; Palmisano, A; Rossi, Gm; Trivioli, G; Fenaroli, P; Manenti, L; Nicastro, M; Incerti, M; Gianfreda, D; Bani, Stefano; Ferretti, S; Corradi, D; Alberici, F; Emmi, G; Di Scala, G; Moroni, G; Percesepe, A; Scheel PJ, Jr; Vermeer, E; van Bommel, Ef; Martín, J; Vaglio, A. | |
| A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever | 1-gen-2019 | Farjadian, S.; Bonatti, F.; Soriano, A.; Reina, M.; Adorni, A.; Graziano, C.; Moghtaderi, M.; Percesepe, A.; Romeo, G.; Martorana, D. | |
| ANCA-Associated Vasculitis | 1-gen-2019 | Bonatti, F.; Adorni, A.; Percesepe, A.; Vaglio, A.; Martorana, D. | |
| Clinical and genetic findings in a series of eight families with arthrogryposis | 1-gen-2022 | Pollazzon, M.; Caraffi, S. G.; Faccioli, S.; Rosato, S.; Fodstad, H.; Campos-Xavier, B.; Soncini, E.; Comitini, G.; Frattini, D.; Grimaldi, T.; Marinelli, M.; Martorana, D.; Percesepe, A.; Sassi, S.; Fusco, C.; Gargano, G.; Superti-Furga, A.; Garavelli, L. | |
| Combination of ultrasound and molecular testing in malignancy risk estimate of Bethesda category IV thyroid nodules: results from a single-institution prospective study | 1-gen-2021 | Marina, M; Zatelli, M C; Goldoni, M; Del Rio, P; Corcione, L; Martorana, D; Percesepe, A; Bonatti, F; Mozzoni, P; Crociara, A; Ceresini, G | |
| Combined genetic variants of human cytomegalovirus envelope glycoproteins as congenital infection markers | 1-gen-2015 | Arcangeletti, Maria Cristina; VASILE SIMONE, Rosita; Rodighiero, Isabella; DE CONTO, Flora; Medici, Maria Cristina; Martorana, Davide; Chezzi, Carlo; Calderaro, Adriana | |
| Discrimination of FCGR2B polymorphism without coamplification of FCGR2A and FCGR2C genes | 1-gen-2018 | Bonatti, F.; Adorni, A.; Percesepe, A.; Martorana, D. | |
| F7 gene variants modulate protein levels in a large cohort of patients with factor VII deficiency: Results from a genotype-phenotype study | 1-gen-2017 | Quintavalle, Gabriele; Riccardi, Federica; Rivolta, Gianna Franca; Martorana, Davide; DI PERNA, Caterina; Percesepe, Antonio; Tagliaferri, Annarita | |
| Genetic Basis of Breast and Ovarian Cancer: Approaches and Lessons Learnt from Three Decades of Inherited Predisposition Testing | 1-gen-2024 | Barili, Valeria; Ambrosini, Enrico; Bortesi, Beatrice; Minari, Roberta; De Sensi, Erika; Cannizzaro, Ilenia Rita; Taiani, Antonietta; Michiara, Maria; Sikokis, Angelica; Boggiani, Daniela; Tommasi, Chiara; Serra, Olga; Bonatti, Francesco; Adorni, Alessia; Luberto, Anita; Caggiati, Patrizia; Martorana, Davide; Uliana, Vera; Percesepe, Antonio; Musolino, Antonino; Pellegrino, Benedetta | |
| Monogenic autoinflammatory diseases with mendelian inheritance: Genes, mutations, and genotype/phenotype correlations | 1-gen-2017 | Martorana, Davide; Bonatti, Francesco; Mozzoni, Paola; Vaglio, Augusto; Percesepe, Antonio | |
| Neurofibromatosis type I and multiple myeloma coexistence: A possible link? | 1-gen-2018 | Accardi, Fabrizio; Marchica, Valentina; Mancini, Cristina; Maredi, Elena; Racano, Costantina; Notarfranchi, Laura; Martorana, Davide; Storti, Paola; Martella, Eugenia; Palma, Benedetta Dalla; Craviotto, Luisa; de Filippo, Massimo; Percesepe, Antonio; Aversa, Franco; Giuliani, Nicola | |
| Patterns of novel alleles and genotype/phenotype correlations resulting from the analysis of 108 previously undetected mutations in patients affected by neurofibromatosis type I | 1-gen-2017 | Bonatti, Francesco; Adorni, Alessia; Matichecchia, Annalisa; Mozzoni, Paola; Uliana, Vera; Pisani, Francesco; Garavelli, Livia; Graziano, Claudio; Gnoli, Maria; Carli, Diana; Bigoni, Stefania; Boschi, Elena; Martorana, Davide; Percesepe, Antonio | |
| Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I | 1-gen-2022 | Riva, Matteo; Martorana, Davide; Uliana, Vera; Caleffi, Edoardo; Boschi, Elena; Garavelli, Livia; Ponti, Giovanni; Sangiorgi, Luca; Graziano, Claudio; Bigoni, Stefania; Rocchetti, Luca Maria; Madeo, Simona; Soli, Fiorenza; Grosso, Enrico; Carli, Diana; Goldoni, Matteo; Pisani, Francesco; Percesepe, Antonio | |
| Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene | 1-gen-2019 | Uliana, Vera; Bonatti, Francesco; Zanatta, Valentina; Mozzoni, Paola; Martorana, Davide; Percesepe, Antonio | |
| Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond | 1-gen-2023 | Barili, V.; Ambrosini, E.; Uliana, V.; Bellini, M.; Vitetta, G.; Martorana, D.; Cannizzaro, I. R.; Taiani, A.; De Sensi, E.; Caggiati, P.; Hilton, S.; Banka, S.; Percesepe, A. |