SUSANI, LUCIA
SUSANI, LUCIA
Istituto di Ricerca Genetica e Biomedica - IRGB - Sede Secondaria Milano
Chromosomal Instability in Mouse-Induced Pluripotent Stem Cells: Insights into X and Y Aneuploidies
2025 Paulis, Marianna; Rebuzzini, Paola; Susani, Lucia; Vezzoni, Paolo; Fassina, Lorenzo; Zuccotti, Maurizio; Garagna, Silvia
Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene
2025 Paulis, Marianna; Di Nardo, Maddalena; Susani, Lucia; La Grua, Angela; Musio, Antonio
Chromosome Transplantation: Opportunities and Limitations
2024 La Grua, Angela; Rao, Ilaria; Susani, Lucia; Lucchini, Franco; Raimondi, Elena; Vezzoni, Paolo; Paulis, Marianna
Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes
2021 Mangiameli, Elisabeth; Cecchele, Anna; Morena, Francesco; Sanvito, Francesca; Matafora, Vittoria; Cattaneo, Angela; della Volpe, Lucrezia; Gnani, Daniela; Paulis, Marianna; Susani, Lucia; Martino, Sabata; Di Micco, Raffaella; Bachi, Angela; Gritti, Angela
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells
2019 Castelli, A; Susani, L; Menale, C; Muggeo, S; Caldana, E; Strina, D; Cassani, B; Recordati, C; Scanziani, E; Ficara, F; Villa, A; Vezzoni, P; Paulis, M
Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.
2016 Palagano, E; Susani, L; Menale, C; Ramenghi, U; Berger, M; Uva, P; Oppo, M; Vezzoni, P; Villa, A; Sobacchi, C
A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells
2015 Paulis, M; Castelli, A; Lizier, M; Susani, L; Lucchini, F; Villa, A; Vezzoni, P
As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene
2014 Sobacchi, C; Pangrazio, A; Lopez, Agm; Gomez, Dpv; Caldana, Me; Susani, L; Vezzoni, P; Villa, A
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity
2013 Pangrazio A.; Fasth A.; Sbardellati A.; Orchard P.J.; Kasow K.A.; Raza J.; Albayrak C.; Albayrak D.; Vanakker O.M.; De Moerloose B.; Vellodi A.; Notarangelo L.D.; Schlack C.; Strauss G.; Kuhl J.S.; Caldana E.; Lo Iacono N.; Susani L.; Kornak U.; Schulz A.; Vezzoni P.; Villa A.; Sobacchi C.
SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity.
2013 Pangrazio A; Fasth A; Sbardellati A; Orchard PJ; Kasow KA; Raza J; Albayrak C; Albayrak D; Vanakker OM; De Moerloose B; Vellodi A; Notarangelo LD; Schlack C; Strauss G; Kühl JS; Caldana E; Lo Iacono N; Susani L; Kornak U; Schulz A; Vezzoni P; Villa A; Sobacchi C.
Cell fusion is a physiological process in Mouse liver.
2008 Faggioli F; Susani L; Sacco MG; Montagna C; Vezzoni P.
TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
2004 Susani, L; Pangrazio, A; Sobacchi, C; Taranta, A; Mortier, G; Savarirayan, R; Villa, A; Orchard, P; Vezzoni, P; Albertini, A; Frattini, A; Pagani, F
Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis
2003 Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A.
Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland.
2002 Zucchi I.; Bini L.; Albani D.; Valaperta R.; Liberatori S.; Raggiaschi R.; Montagna C.; Susani L.; Barbieri O.; Pallini V.; Vezzoni P.; Dulbecco R.
Identification and purification of overlapping cosmid clones of the region Xq24-qter of human X chromosome using HPLC
1992 I.Biunno; P.L. Mauri; L. Susani;P. G. Pietta
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Chromosomal Instability in Mouse-Induced Pluripotent Stem Cells: Insights into X and Y Aneuploidies | 1-gen-2025 | Paulis, Marianna; Rebuzzini, Paola; Susani, Lucia; Vezzoni, Paolo; Fassina, Lorenzo; Zuccotti, Maurizio; Garagna, Silvia | |
| Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene | 1-gen-2025 | Paulis, Marianna; Di Nardo, Maddalena; Susani, Lucia; La Grua, Angela; Musio, Antonio | |
| Chromosome Transplantation: Opportunities and Limitations | 1-gen-2024 | La Grua, Angela; Rao, Ilaria; Susani, Lucia; Lucchini, Franco; Raimondi, Elena; Vezzoni, Paolo; Paulis, Marianna | |
| Human iPSC-based neurodevelopmental models of globoid cell leukodystrophy uncover patient- and cell type-specific disease phenotypes | 1-gen-2021 | Mangiameli, Elisabeth; Cecchele, Anna; Morena, Francesco; Sanvito, Francesca; Matafora, Vittoria; Cattaneo, Angela; della Volpe, Lucrezia; Gnani, Daniela; Paulis, Marianna; Susani, Lucia; Martino, Sabata; Di Micco, Raffaella; Bachi, Angela; Gritti, Angela | |
| Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells | 1-gen-2019 | Castelli, A; Susani, L; Menale, C; Muggeo, S; Caldana, E; Strina, D; Cassani, B; Recordati, C; Scanziani, E; Ficara, F; Villa, A; Vezzoni, P; Paulis, M | |
| Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis. | 1-gen-2016 | Palagano, E; Susani, L; Menale, C; Ramenghi, U; Berger, M; Uva, P; Oppo, M; Vezzoni, P; Villa, A; Sobacchi, C | |
| A pre-screening FISH-based method to detect CRISPR/Cas9 off-targets in mouse embryonic stem cells | 1-gen-2015 | Paulis, M; Castelli, A; Lizier, M; Susani, L; Lucchini, F; Villa, A; Vezzoni, P | |
| As little as needed: The extraordinary case of a mild recessive osteopetrosis owing to a novel splicing hypomorphic mutation in the TCIRG1 gene | 1-gen-2014 | Sobacchi, C; Pangrazio, A; Lopez, Agm; Gomez, Dpv; Caldana, Me; Susani, L; Vezzoni, P; Villa, A | |
| SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity | 1-gen-2013 | Pangrazio A.; Fasth A.; Sbardellati A.; Orchard P.J.; Kasow K.A.; Raza J.; Albayrak C.; Albayrak D.; Vanakker O.M.; De Moerloose B.; Vellodi A.; Notarangelo L.D.; Schlack C.; Strauss G.; Kuhl J.S.; Caldana E.; Lo Iacono N.; Susani L.; Kornak U.; Schulz A.; Vezzoni P.; Villa A.; Sobacchi C. | |
| SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. | 1-gen-2013 | Pangrazio A; Fasth A; Sbardellati A; Orchard PJ; Kasow KA; Raza J; Albayrak C; Albayrak D; Vanakker OM; De Moerloose B; Vellodi A; Notarangelo LD; Schlack C; Strauss G; Kühl JS; Caldana E; Lo Iacono N; Susani L; Kornak U; Schulz A; Vezzoni P; Villa A; Sobacchi C. | |
| Cell fusion is a physiological process in Mouse liver. | 1-gen-2008 | Faggioli F; Susani L; Sacco MG; Montagna C; Vezzoni P. | |
| TCIRG1-dependent recessive osteopetrosis: Mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. | 1-gen-2004 | Susani, L; Pangrazio, A; Sobacchi, C; Taranta, A; Mortier, G; Savarirayan, R; Villa, A; Orchard, P; Vezzoni, P; Albertini, A; Frattini, A; Pagani, F | |
| Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis | 1-gen-2003 | Frattini A; Pangrazio A; Susani L; Sobacchi C; Mirolo M; Abinun M; Andolina M; Flanagan A; Horwitz EM; Mihci E; Notarangelo LD; Ramenghi U; Teti A; Van Hove J; Vujic D; Young T; Albertini A; Orchard PJ; Vezzoni P; Villa A. | |
| Dome formation in cell cultures as expression of an early stage of lactogenic differentiation of the mammary gland. | 1-gen-2002 | Zucchi I.; Bini L.; Albani D.; Valaperta R.; Liberatori S.; Raggiaschi R.; Montagna C.; Susani L.; Barbieri O.; Pallini V.; Vezzoni P.; Dulbecco R. | |
| Identification and purification of overlapping cosmid clones of the region Xq24-qter of human X chromosome using HPLC | 1-gen-1992 | I.Biunno; P.L. Mauri; L. Susani;P. G. Pietta |