Sfoglia per Autore
Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells.
2002-01-01 AILLES L.; SCHMIDT M.; SANTONI DE SIO F.; GLIMM H.; CAVALLERI S.; BRUNO S.; V. PIACIBELLO; VON KALLE C.; NALDINI L.
Robust and efficient regulation of transgene expression in vivo by improved tetracycline-dependent lentiviral vectors
2002-01-01 Vigna, Elisa; Cavalieri, Simona; Ailles, Laurie; Geuna, Massimo; Loew, Rainer; Bujard, Hermann; Naldini, Luigi
Human T lymphocytes transduced by lentiviral vectors in the absence of TCR activation maintain an intact immune competence
2003-01-01 Cavalieri, Simona; Cazzaniga, Sabrina; Geuna, Massimo; Magnani, Zulma; Bordignon, Claudio; Naldini, Luigi; Bonini, Chiara
ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions
2006-01-01 Cavalieri, Simona; Funaro, Ada; Porcedda, Paola; Turinetto, Valentina; Migone, Nicola; Gatti, Richard; Brusco, Alfredo
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia
2007-01-01 Giachino C; Turinetto V; Cavalieri S; Lantelme E; Orlando L; Ricardi U; De Marchi M; Amoroso A; Gregori D; Porcedda P
Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress
2007-01-01 DEGAN P; D'ISCHIA M; PALLARDÓ FV; ZATTERALE A; BRUSCO A; CALZONE R; CAVALIERI S; KAVAKLI K; LLORET A; MANINI P; PISANTI MA; VUTTARIELLO E; PAGANO G
A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia
2008-01-01 Porcedda, Paola; Turinetto, Valentina; Brusco, Alfredo; Cavalieri, Simona; Lantelme, Erica; Orlando, Luca; Ricardi, Umberto; Amoroso, Antonio; Gregori, Dario; Giachino, Claudia
Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20
2008-01-01 CAVALIERI S; FUNARO A; PAPPI P; MIGONE N; GATTI RA; BRUSCO A
Second-Generation Sequencing to detect uncommon mutations in the ATM gene
2010-01-01 Simona Cavalieri; Eleonora Di Gregorio; Alfredo Brusco
“De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation”
2010-01-01 E. Di Gregorio; M. Rolando; L. Verdun Di Cantogno; E. Grosso; S. Cavalieri; G. Stevanin; O. Zuffardi; F. Retta; C. Marelli; N. Ventura; A. Durr; A. Brussino; A. Brusco
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations
2010-01-01 Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A
A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region
2011-01-01 Cavalieri S; Gatti RA; Brusco A
A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region
2011-01-01 Cavalieri S; Gatti R; Brusco A
“A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference”
2012-01-01 E. Di Gregorio; F. Bianchi; A. Schiavi; A. Chiotto; M. Rolando; L. Verdun; E. Grosso; S. Cavalieri; A. Calcia; D. Lacerenza; O. Zuffardi; S.F. Retta; G. Stevanin; C. Marelli; A. Durr; S. Forlani; J. Chelly; F. Montarolo; F. Tempia; H.E. Beggs; L. Haixlin; S. Squadrone16; M.C. Abete; N. Migone; A. Brussino; N. Ventura; F. Di Cunto; Brusco A
Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment.
2012-01-01 MANCINI C.; Vaula G; Scalzitti L; Cavalieri S; Bertini E; Aiello C; Lucchini C; Gatti R A; Brussino A; Brusco A.
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia
2012-01-01 Kotoka Nakamura;Liutao Du;Rashmi Tunuguntla;Francesca Fike;Simona Cavalieri;Tomohiro Morio;Shuki Mizutani;Alfredo Brusco;Richard A. Gatti
Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide
2012-01-01 Cecilia Mancini;Giovanna Vaula;Laura Scalzitti;Simona Cavalieri;Enrico Bertini;Chiara Aiello;Cinzia Lucchini;Richard A. Gatti;Alessandro Brussino;Alfredo Brusco
De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype
2012-01-01 Emilia Cirillo; Rosa Romano; Alfonso Romano; Giuliana Giardino; Anne Durandy; Lucio Nitsch; Rita Genesio; Eleonora Di Gregorio; Simona Cavalieri; Giovanna Abate; Luigi Del Vecchio; Alfredo Brusco;Claudio Pignata
EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET
2013-01-01 Cecilia Mancini; Laura Orsi; Simona Cavalieri; Eleonora Di Gregorio; Elisa Giorgio; Alessandro Calcia; Daniela Lacerenza; Elisa Pozzi; Thomas Langer; Quasar Saleem Padiath; Alfredo Brusco
Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO)
2013-01-01 Simona Cavalieri;Elisa Pozzi;Richard A Gatti;Alfredo Brusco
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| Molecular evidence of lentiviral vector-mediated gene transfer into human self-renewing, multi-potent, long-term NOD/SCID repopulating hematopoietic cells. | 2002 | AILLES L.; SCHMIDT M.; SANTONI DE SIO F.; GLIMM H.; CAVALLERI S.; BRUNO S.; V. PIACIBELLO; VON KALLE C.; NALDINI L. | |
| Robust and efficient regulation of transgene expression in vivo by improved tetracycline-dependent lentiviral vectors | 2002 | Vigna, Elisa; Cavalieri, Simona; Ailles, Laurie; Geuna, Massimo; Loew, Rainer; Bujard, Hermann; Naldini, Luigi | |
| Human T lymphocytes transduced by lentiviral vectors in the absence of TCR activation maintain an intact immune competence | 2003 | Cavalieri, Simona; Cazzaniga, Sabrina; Geuna, Massimo; Magnani, Zulma; Bordignon, Claudio; Naldini, Luigi; Bonini, Chiara | |
| ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions | 2006 | Cavalieri, Simona; Funaro, Ada; Porcedda, Paola; Turinetto, Valentina; Migone, Nicola; Gatti, Richard; Brusco, Alfredo | |
| A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of Ataxia Telangiectasia | 2007 | Giachino C; Turinetto V; Cavalieri S; Lantelme E; Orlando L; Ricardi U; De Marchi M; Amoroso A; Gregori D; Porcedda P | |
| Glutathione levels in blood from ataxia telangiectasia patients suggest in vivo adaptive mechanisms to oxidative stress | 2007 | DEGAN P; D'ISCHIA M; PALLARDÓ FV; ZATTERALE A; BRUSCO A; CALZONE R; CAVALIERI S; KAVAKLI K; LLORET A; MANINI P; PISANTI MA; VUTTARIELLO E; PAGANO G | |
| A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia | 2008 | Porcedda, Paola; Turinetto, Valentina; Brusco, Alfredo; Cavalieri, Simona; Lantelme, Erica; Orlando, Luca; Ricardi, Umberto; Amoroso, Antonio; Gregori, Dario; Giachino, Claudia | |
| Large Genomic Mutations within the ATM Gene Detected by MLPA, Including a Duplication of 41 kb from Exon 4 to 20 | 2008 | CAVALIERI S; FUNARO A; PAPPI P; MIGONE N; GATTI RA; BRUSCO A | |
| Second-Generation Sequencing to detect uncommon mutations in the ATM gene | 2010 | Simona Cavalieri; Eleonora Di Gregorio; Alfredo Brusco | |
| “De-novo translocation involving PTK2 and THOC2 genes in a patient with cerebellar hypoplasia and mental retardation” | 2010 | E. Di Gregorio; M. Rolando; L. Verdun Di Cantogno; E. Grosso; S. Cavalieri; G. Stevanin; O. Zuffardi; F. Retta; C. Marelli; N. Ventura; A. Durr; A. Brussino; A. Brusco | |
| A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations | 2010 | Brussino A; Vaula G; Cagnoli C; Panza E; Seri M; Di Gregorio E; Scappaticci S; Camanini S; Daniele D; Bradac GB; Pinessi L; Cavalieri S; Grosso E; Migone N; Brusco A | |
| A deep intronic mutation in an Ataxia Telangiectasia patient identified by genomic resequencing of the ATM region | 2011 | Cavalieri S; Gatti RA; Brusco A | |
| A deep intronic mutation in an Ataxia Telangiectasia patient Identified by genomic resequencing of the ATM region | 2011 | Cavalieri S; Gatti R; Brusco A | |
| “A de novo X;8 translocation in a patient with psychomotor retardationand congenital cerebellar hypoplasia creates a PTK2-THOC2 fusion gene and knocks down THOC2 expression by transcriptional interference” | 2012 | E. Di Gregorio; F. Bianchi; A. Schiavi; A. Chiotto; M. Rolando; L. Verdun; E. Grosso; S. Cavalieri; A. Calcia; D. Lacerenza; O. Zuffardi; S.F. Retta; G. Stevanin; C. Marelli; A. Durr; S. Forlani; J. Chelly; F. Montarolo; F. Tempia; H.E. Beggs; L. Haixlin; S. Squadrone16; M.C. Abete; N. Migone; A. Brussino; N. Ventura; F. Di Cunto; Brusco A | |
| Megalencephalic Leukoencephalopathy with subcortical Cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated by AMO treatment. | 2012 | MANCINI C.; Vaula G; Scalzitti L; Cavalieri S; Bertini E; Aiello C; Lucchini C; Gatti R A; Brussino A; Brusco A. | |
| Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia | 2012 | Kotoka Nakamura;Liutao Du;Rashmi Tunuguntla;Francesca Fike;Simona Cavalieri;Tomohiro Morio;Shuki Mizutani;Alfredo Brusco;Richard A. Gatti | |
| Megalencephalic leukoencephalopathy with subcortical cysts type 1 (MLC1) due to a homozygous deep intronic splicing mutation (c.895-226T>G) abrogated in vitro using an antisense morpholino oligonucleotide | 2012 | Cecilia Mancini;Giovanna Vaula;Laura Scalzitti;Simona Cavalieri;Enrico Bertini;Chiara Aiello;Cinzia Lucchini;Richard A. Gatti;Alessandro Brussino;Alfredo Brusco | |
| De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype | 2012 | Emilia Cirillo; Rosa Romano; Alfonso Romano; Giuliana Giardino; Anne Durandy; Lucio Nitsch; Rita Genesio; Eleonora Di Gregorio; Simona Cavalieri; Giovanna Abate; Luigi Del Vecchio; Alfredo Brusco;Claudio Pignata | |
| EXOME SEQUENCING REVEALS AN ATYPICAL CASE OF SCAR1 WITH MYOCLONIC MOVEMENTS AT ONSET | 2013 | Cecilia Mancini; Laura Orsi; Simona Cavalieri; Eleonora Di Gregorio; Elisa Giorgio; Alessandro Calcia; Daniela Lacerenza; Elisa Pozzi; Thomas Langer; Quasar Saleem Padiath; Alfredo Brusco | |
| Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO) | 2013 | Simona Cavalieri;Elisa Pozzi;Richard A Gatti;Alfredo Brusco |
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