CAVALIERI, Simona
CAVALIERI, Simona
SCIENZE MEDICHE
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 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
CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV.
2014-01-01 Elisa Giorgio1; Viviana Caputo2; Andrea Ciolfi3;4; Eleonora Di Gregorio5; Alessandro Calcia1; Cecilia Mancini1; Simona Cavalieri5; Elga Belligni6; Elisa Biamino6; Cristina Molinatto6; Margherita Cirillo6; Giovanni Battista Ferrero6; Marco Tartaglia3; Alfredo Brusco1
EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA
2014-01-01 C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1
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
LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION
2014-01-01 Elisa Giorgio1; Livio Favaro 2; Nicola Lo Buono1; Cecilia Mancini1; Giovanna Vaula 3; Pietro Cortelli 4; Sabina Capellari 4 ;Paola Mandich 5; Niklas Dahl 6; Atle Melberg 7; Elisa Pozzi1; Eleonora Di Gregorio8; Simona Cavalieri8; Pierre Labauge 9; Eleonore Eymard Pierre 9; Harshvardhan Rolyan 10; Odile Boespflug-Tanguy 9;11-13; Laura Gasparini 14; Quasar Saleem Padiath 10; Alessandro Brussino 1; Alfredo Brusco 1;8
LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH
2014-01-01 Elisa Savin1; Eleonora Di Gregorio 1;2; Franco Fiocchi 1; Valeria Giorgia Naretto 1; Elisa Biamino 3; Elga Belligni 3; Cecilia Mancini 2; Simona Cavalieri2; Elisa Pozzi2; Elisa Giorgio 2; Eva Colombo 1; Flavia Talarico 1; Patrizia Pappi 1; Enrico Grosso 1; Margherita Cirillo Silengo 3; Giovanni Battista Ferrero 3; Alfredo Brusco 1
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.
Second-Generation Sequencing to detect uncommon mutations in the ATM gene
2010-01-01 Simona Cavalieri; Eleonora Di Gregorio; Alfredo Brusco
TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY
2014-01-01 Giovanna Vaula1; Elisa Giorgio2; Giovanni Bosco1; Martina Conterno1; Davide Quartana1; Alessandro Calcia2; Cecilia Mancini2; Eleonora Di Gregorio3; Simona Cavalieri2; Elisa Pozzi2; Alessandro Brussino2; Alfredo Brusco2.
“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
“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
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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 | |
| CHALLENGES IN MEDICAL GENETICS: EXOME SEQUENCING UNCOVERS RECESSIVE MUTATIONS IN TWO CASES WITH DE NOVO CNV. | 2014 | Elisa Giorgio1; Viviana Caputo2; Andrea Ciolfi3;4; Eleonora Di Gregorio5; Alessandro Calcia1; Cecilia Mancini1; Simona Cavalieri5; Elga Belligni6; Elisa Biamino6; Cristina Molinatto6; Margherita Cirillo6; Giovanni Battista Ferrero6; Marco Tartaglia3; Alfredo Brusco1 | |
| EXOME SEQUENCING REVEALS A NEW CLN5 MUTATION IN AN ADULT FORM OF CEREBELLAR ATAXIA | 2014 | C. Mancini1; S. Nassani2; Y. Guo3; E. Giorgio1; A. Calcia1; X. Liu4; E. Di Gregorio5; S. Cavalieri5; E. Pozzi1; A. Brussino1; Y. Xie4; F. Wang3; L. Tian3; W. Chen4; B. Nmezi6; Q. S. Padiath6; H. Jiang4;7; A. Kyttala8; N. R. Pizio2; H. Hakonarson3;9;10; A. Brusco1 | |
| 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 | |
| LAMIN B1 EXPRESSION IS AFFECTED BY EBV INFECTION IN LYMPHOBLASTS OF PATIENTS WITH AUTOSOMAL DOMINANT LEUKODYSTROPHY THROUGH MIR-23 DEREGULATION | 2014 | Elisa Giorgio1; Livio Favaro 2; Nicola Lo Buono1; Cecilia Mancini1; Giovanna Vaula 3; Pietro Cortelli 4; Sabina Capellari 4 ;Paola Mandich 5; Niklas Dahl 6; Atle Melberg 7; Elisa Pozzi1; Eleonora Di Gregorio8; Simona Cavalieri8; Pierre Labauge 9; Eleonore Eymard Pierre 9; Harshvardhan Rolyan 10; Odile Boespflug-Tanguy 9;11-13; Laura Gasparini 14; Quasar Saleem Padiath 10; Alessandro Brussino 1; Alfredo Brusco 1;8 | |
| LARGE CRYPTIC GENOMIC REARRANGEMENTS WITH APPARENTLY NORMAL KARYOTYPES DETECTED BY ARRAY-CGH | 2014 | Elisa Savin1; Eleonora Di Gregorio 1;2; Franco Fiocchi 1; Valeria Giorgia Naretto 1; Elisa Biamino 3; Elga Belligni 3; Cecilia Mancini 2; Simona Cavalieri2; Elisa Pozzi2; Elisa Giorgio 2; Eva Colombo 1; Flavia Talarico 1; Patrizia Pappi 1; Enrico Grosso 1; Margherita Cirillo Silengo 3; Giovanni Battista Ferrero 3; Alfredo Brusco 1 | |
| 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. | |
| Second-Generation Sequencing to detect uncommon mutations in the ATM gene | 2010 | Simona Cavalieri; Eleonora Di Gregorio; Alfredo Brusco | |
| TWO NOVEL MISSENSE COL4A1 MUTATIONS AND GENETICS HETEROGENEITY IN PORENCEPHALY | 2014 | Giovanna Vaula1; Elisa Giorgio2; Giovanni Bosco1; Martina Conterno1; Davide Quartana1; Alessandro Calcia2; Cecilia Mancini2; Eleonora Di Gregorio3; Simona Cavalieri2; Elisa Pozzi2; Alessandro Brussino2; Alfredo Brusco2. | |
| “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 | |
| “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 |