LANZI, Gaetana
LANZI, Gaetana
Dipartimento di Medicina Molecolare e Traslazionale
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease.
2016-01-01 Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A.
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients
2020-01-01 Tessarin, Giulio; Rossi, Stefano; Baronio, Manuela; Gazzurelli, Luisa; Colpani, Michael; Benvenuto, Alessio; Zunica, Fiammetta; Cardinale, Fabio; Martire, Baldassarre; Brescia, Letizia; Costagliola, Giorgio; Luti, Laura; Casazza, Gabriella; Menconi, Maria Cristina; Saettini, Francesco; Palumbo, Laura; Girelli, Maria Federica; Badolato, Raffaele; Lanzi, Gaetana; Chiarini, Marco; Moratto, Daniele; Meini, Antonella; Giliani, Silvia; Bondioni, Maria Pia; Plebani, Alessandro; Lougaris, Vassilios
Aicardi-Goutieres syndrome neuroradiological description of eleven new cases
2003-01-01 Uggetti, C; Fazzi, Elisa Maria; D'Arrigo, S; Zappoli, F; Lanzi, Gaetana
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype
2015-01-01 Lougaris, Vassilios; Faletra, Flavio; Lanzi, Gaetana; Vozzi, Diego; Marcuzzi, Annalisa; Valencic, Erica; Piscianz, Elisa; Bianco, Annamonica; Girardelli, Martina; Baronio, Manuela; Loganes, Claudia; Fasth, Anders; Salvini, Filippo; Trizzino, Antonino; Moratto, Daniele; Facchetti, Fabio; Giliani, Silvia Clara; Plebani, Alessandro; Tommasini, Alberto
Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients
2020-01-01 Genova, Elena; Cavion, Federica; Lucafò, Marianna; Pelin, Marco; Lanzi, Gaetana; Masneri, Stefania; Ferraro, Rosalba Monica; Fazzi, Elisa Maria; Orcesi, Simona; Decorti, Giuliana; Tommasini, Alberto; Giliani, Silvia; Stocco, Gabriele
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING
2019-01-01 Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, Eltahir; Savio, Giulia; Giliani, Silvia Clara
CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING
2019-01-01 Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, ELTAHIR ABDELRAZIG MOHAMED; Savio, Giulia; Giliani, Silvia Clara
Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.
2010-01-01 Lanzi, Gaetana; S., Ferrari; M., Vihinen; S., Caraffi; N., Kutukculer; Schiaffonati, Luisa; Plebani, Alessandro; L. D., Notarangelo; Fra, Annamaria; Giliani, Silvia Clara
Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B
2019-01-01 Ferraro, R. M.; Masneri, S.; Lanzi, G.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene
2021-01-01 Ali, E.; Ferraro, R. M.; Guglielmi, A.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Pollara, L.; Valente, E. M.; Accorsi, P.; Giordano, L.; Giliani, S. C.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects
2019-01-01 Calzoni, Enrica; Platt, Craig D.; Keles, Sevgi; Kuehn, Hye Sun; Beaussant-Cohen, Sarah; Zhang, Yu; Pazmandi, Julia; Lanzi, Gaetana; Pala, Francesca; Tahiat, Azzeddine; Artac, Hasibe; Heredia, Raul Jimenez; Dmytrus, Jasmin; Reisli, Ismail; Uygun, Vedat; Uygun, Dilara; Bingol, Aysen; Basaran, Erdem; Djenouhat, Kamel; Benhalla, Nafissa; Bendahmane, Chafa; Emiroglu, Melike; Kirchhausen, Tomas; Pasham, Mithun; Jones, Jennifer; Wallace, Jacqueline G.; Zheng, Lixin; Boisson, Bertrand; Porta, Fulvio; Rosenzweig, Sergio D.; Su, Helen; Giliani, Silvia; Lenardo, Michael; Geha, Raif S.; Boztug, Kaan; Chou, Janet; Notarangelo, Luigi D.
First report of successful stem cell transplantation in a child with CD40 deficiency
2007-01-01 Mazzolari, Evelina; Lanzi, Gaetana; Forino, Concetta; Lanfranchi, Arnalda; Aksu, G; Ozturk, C; Giliani, Silvia Clara; Notarangelo, Luigi Daniele; Kutukculer, N.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene
2020-01-01 Lanzi, G.; Ferraro, R. M.; Masneri, S.; Piovani, G.; Barisani, C.; Sobacchi, C.; Villa, A.; Vezzoni, P.; Giliani, S.
Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease
2019-01-01 Lanzi, G.; Masneri, S.; Ferraro, R. M.; Genova, E.; Piovani, G.; Barisani, C.; Pelin, M.; Stocco, Gabriele; Decorti, G.; Bramuzzo, M.; Giliani, S.
Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene
2020-01-01 Ali, E.; Ferraro, R. M.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Serpieri, V.; Valente, E. M.; Giordano, L.; Giliani, S. C.
Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome
2019-01-01 Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Savio, Giulia; Giliani, Silvia Clara
Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene
2019-01-01 Masneri, S.; Ferraro, R. M.; Lanzi, G.; Piovani, G.; Mori, L.; Barisani, C.; Moratto, D.; Plebani, A.; Badolato, R.; Soresina, A.; Giliani, S.
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1
2019-01-01 Ferraro, R. M.; Lanzi, G.; Masneri, S.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene
2019-01-01 Masneri, S.; Lanzi, G.; Ferraro, R. M.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S.
Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.
2014-01-01 Recher, M; Karjalainen Lindsberg, Ml; Lindlöf, M; Söderlund Venermo, M; Lanzi, Gaetana; Väisänen, E; Kumar, A; Sadeghi, M; Berger, Ct; Alitalo, T; Anttila, P; Kolehmainen, M; Franssila, R; Chen, T; Siitonen, S; Delmonte, Om; Walter, Je; Pessach, I; Hess, C; Simpson, Ma; Navarini, Aa; Giliani, Silvia Clara; Hedman, K; Seppanen, M; Notarangelo, L. D.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. | 1-gen-2016 | Filosto, Massimiliano; Lanzi, Gaetana; Nesti, C; Vielmi, Valentina; Marchina, Eleonora; Galvagni, Anna; Giliani, Silvia Clara; Santorelli, Fm; Padovani, A. | |
| Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients | 1-gen-2020 | Tessarin, Giulio; Rossi, Stefano; Baronio, Manuela; Gazzurelli, Luisa; Colpani, Michael; Benvenuto, Alessio; Zunica, Fiammetta; Cardinale, Fabio; Martire, Baldassarre; Brescia, Letizia; Costagliola, Giorgio; Luti, Laura; Casazza, Gabriella; Menconi, Maria Cristina; Saettini, Francesco; Palumbo, Laura; Girelli, Maria Federica; Badolato, Raffaele; Lanzi, Gaetana; Chiarini, Marco; Moratto, Daniele; Meini, Antonella; Giliani, Silvia; Bondioni, Maria Pia; Plebani, Alessandro; Lougaris, Vassilios | |
| Aicardi-Goutieres syndrome neuroradiological description of eleven new cases | 1-gen-2003 | Uggetti, C; Fazzi, Elisa Maria; D'Arrigo, S; Zappoli, F; Lanzi, Gaetana | |
| Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype | 1-gen-2015 | Lougaris, Vassilios; Faletra, Flavio; Lanzi, Gaetana; Vozzi, Diego; Marcuzzi, Annalisa; Valencic, Erica; Piscianz, Elisa; Bianco, Annamonica; Girardelli, Martina; Baronio, Manuela; Loganes, Claudia; Fasth, Anders; Salvini, Filippo; Trizzino, Antonino; Moratto, Daniele; Facchetti, Fabio; Giliani, Silvia Clara; Plebani, Alessandro; Tommasini, Alberto | |
| Biomarkers and precision therapy for primary immunodeficiencies: an in vitro study based on induced pluripotent stem cells (iPSCs) from patients | 1-gen-2020 | Genova, Elena; Cavion, Federica; Lucafò, Marianna; Pelin, Marco; Lanzi, Gaetana; Masneri, Stefania; Ferraro, Rosalba Monica; Fazzi, Elisa Maria; Orcesi, Simona; Decorti, Giuliana; Tommasini, Alberto; Giliani, Silvia; Stocco, Gabriele | |
| CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING | 1-gen-2019 | Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, Eltahir; Savio, Giulia; Giliani, Silvia Clara | |
| CRI DU CHAT INDUCED PLURIPOTENT STEM CELLS: NEW FRONTIERS IN DISEASE UNDERSTANDING | 1-gen-2019 | Siddig, KHALLAFALLA ALI KHALLAFALLA; Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Ali, ELTAHIR ABDELRAZIG MOHAMED; Savio, Giulia; Giliani, Silvia Clara | |
| Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. | 1-gen-2010 | Lanzi, Gaetana; S., Ferrari; M., Vihinen; S., Caraffi; N., Kutukculer; Schiaffonati, Luisa; Plebani, Alessandro; L. D., Notarangelo; Fra, Annamaria; Giliani, Silvia Clara | |
| Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B | 1-gen-2019 | Ferraro, R. M.; Masneri, S.; Lanzi, G.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S. | |
| Establishment of three Joubert syndrome-derived induced pluripotent stem cell (iPSC) lines harbouring compound heterozygous mutations in CC2D2A gene | 1-gen-2021 | Ali, E.; Ferraro, R. M.; Guglielmi, A.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Pollara, L.; Valente, E. M.; Accorsi, P.; Giordano, L.; Giliani, S. C. | |
| F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects | 1-gen-2019 | Calzoni, Enrica; Platt, Craig D.; Keles, Sevgi; Kuehn, Hye Sun; Beaussant-Cohen, Sarah; Zhang, Yu; Pazmandi, Julia; Lanzi, Gaetana; Pala, Francesca; Tahiat, Azzeddine; Artac, Hasibe; Heredia, Raul Jimenez; Dmytrus, Jasmin; Reisli, Ismail; Uygun, Vedat; Uygun, Dilara; Bingol, Aysen; Basaran, Erdem; Djenouhat, Kamel; Benhalla, Nafissa; Bendahmane, Chafa; Emiroglu, Melike; Kirchhausen, Tomas; Pasham, Mithun; Jones, Jennifer; Wallace, Jacqueline G.; Zheng, Lixin; Boisson, Bertrand; Porta, Fulvio; Rosenzweig, Sergio D.; Su, Helen; Giliani, Silvia; Lenardo, Michael; Geha, Raif S.; Boztug, Kaan; Chou, Janet; Notarangelo, Luigi D. | |
| First report of successful stem cell transplantation in a child with CD40 deficiency | 1-gen-2007 | Mazzolari, Evelina; Lanzi, Gaetana; Forino, Concetta; Lanfranchi, Arnalda; Aksu, G; Ozturk, C; Giliani, Silvia Clara; Notarangelo, Luigi Daniele; Kutukculer, N. | |
| Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene | 1-gen-2020 | Lanzi, G.; Ferraro, R. M.; Masneri, S.; Piovani, G.; Barisani, C.; Sobacchi, C.; Villa, A.; Vezzoni, P.; Giliani, S. | |
| Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Crohn's disease | 1-gen-2019 | Lanzi, G.; Masneri, S.; Ferraro, R. M.; Genova, E.; Piovani, G.; Barisani, C.; Pelin, M.; Stocco, Gabriele; Decorti, G.; Bramuzzo, M.; Giliani, S. | |
| Generation of induced pluripotent stem cell (iPSC) lines from a Joubert syndrome patient with compound heterozygous mutations in C5orf42 gene | 1-gen-2020 | Ali, E.; Ferraro, R. M.; Lanzi, G.; Masneri, S.; Piovani, G.; Mazzoldi, E. L.; Serpieri, V.; Valente, E. M.; Giordano, L.; Giliani, S. C. | |
| Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome | 1-gen-2019 | Piovani, Giovanna; Lanzi, Gaetana; Ferraro, Rosalba Monica; Masneri, Stefania; Barisani, Chiara; Savio, Giulia; Giliani, Silvia Clara | |
| Generation of induced Pluripotent Stem Cells (UNIBSi008-A, UNIBSi008-B, UNIBSi008-C) from an Ataxia-Telangiectasia (AT) patient carrying a novel homozygous deletion in ATM gene | 1-gen-2019 | Masneri, S.; Ferraro, R. M.; Lanzi, G.; Piovani, G.; Mori, L.; Barisani, C.; Moratto, D.; Plebani, A.; Badolato, R.; Soresina, A.; Giliani, S. | |
| Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1 | 1-gen-2019 | Ferraro, R. M.; Lanzi, G.; Masneri, S.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S. | |
| Generation of three isogenic induced Pluripotent Stem Cell lines (iPSCs) from fibroblasts of a patient with Aicardi Goutières Syndrome carrying a c.2471G>A dominant mutation in IFIH1 gene | 1-gen-2019 | Masneri, S.; Lanzi, G.; Ferraro, R. M.; Barisani, C.; Piovani, G.; Savio, G.; Cattalini, M.; Galli, J.; Cereda, C.; Muzi-Falconi, M.; Orcesi, S.; Fazzi, E.; Giliani, S. | |
| Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. | 1-gen-2014 | Recher, M; Karjalainen Lindsberg, Ml; Lindlöf, M; Söderlund Venermo, M; Lanzi, Gaetana; Väisänen, E; Kumar, A; Sadeghi, M; Berger, Ct; Alitalo, T; Anttila, P; Kolehmainen, M; Franssila, R; Chen, T; Siitonen, S; Delmonte, Om; Walter, Je; Pessach, I; Hess, C; Simpson, Ma; Navarini, Aa; Giliani, Silvia Clara; Hedman, K; Seppanen, M; Notarangelo, L. D. |