CNR Institutional Research Information System

SUSANI, LUCIA

SUSANI, LUCIA  

Istituto di Ricerca Genetica e Biomedica - IRGB  

Mostra records
Risultati 1 - 20 di 24 (tempo di esecuzione: 0.051 secondi).
Titolo Data di pubblicazione Autore(i) File
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: A Possible Approach to Treat Human X-linked Disorders 1-gen-2020 Paulis, M; Susani, L; Castelli, A; Suzuki, T; Hara, T; Straniero, L; Duga, S; Strina, D; Mantero, S; Caldana, E; Sergi, Ls; Villa, A; Vezzoni, P
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
Chromosome transplantation as a novel approach for correcting complex genomic disorders 1-gen-2015 Paulis M.; Castelli A.; Susani L.; Lizier M.; Lagutina I.; Focarelli M.L.; Recordati C.; Uva P.; Faggioli F.; Neri T.; Scanziani E.; Galli C.; 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.
A recessive contiguous gene deletion in chromosome16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient. 1-gen-2012 Pangrazio, A; Frattini, A; Valli, R; Maserati, E; Susani, L; Villa, A; Vezzoni, P; Alherz, W; Sobacchi, C
Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient. 1-gen-2012 Pangrazio A; Frattini A; Valli R; Maserati E; Susani L; Vezzoni P; Villa A; AlHerz W; Sobacchi C. A
Characterization of a novel Alu-Alu recombination-mediated genomic deletion in the TCIRG1 gene in five osteopetrotic patients. 1-gen-2009 Pangrazio A; Caldana ME; Sobacchi C; Panaroni C; Susani L; Mihci E; Cavaliere ML; Giliani S; Villa A; Frattini A.
Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. 1-gen-2009 Revenkova E; Focarelli ML; Susani L; Paulis M; Bassi MT; Mannini L; Frattini A; Delia D; Krantz I; Vezzoni P; Jessberger R; Musio A.
Cell fusion is a physiological process in Mouse liver. 1-gen-2008 Faggioli F; Susani L; Sacco MG; Montagna C; Vezzoni P.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 1-gen-2007 Sobacchi C; Frattini A; Guerrini MM; Abinun M; Pangrazio A; Susani L; Bredius R; Mancini G; Cant A; Bishop N; Grabowski P; Del Fattore A; Messina C; Errigo G; Coxon FP; Scott DI; Teti A; Rogers MJ; Vezzoni P; Villa A; Helfrich MH.
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. 1-gen-2004 Susani, Lucia; Pangrazio, Alessandra; Sobacchi, Cristina; Taranta, Anna; Mortier, Geert; Savarirayan, Ravi; Villa, Anna; Orchard, Paul; Vezzoni, Paolo; Albertini, Alberto; Frattini, Annalisa; Pagani, Franco
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.
The ZNF75 zinc finger gene subfamily: Isolation and mapping of the four members in humans and great apes 1-gen-1996 Villa A.; Strina D.; Frattini A.; Faranda S.; Macchi P.; Finelli P.; Bozzi F.; Susani L.; Archidiacono N.; Rocchi M.; Vezzoni P.