CAVALIERI, Simona
CAVALIERI, Simona
SCIENZE MEDICHE
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q
2017-01-01 Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo
A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia
2013-01-01 Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco
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 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 novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
2016-01-01 Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)
2017-01-01 Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; 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
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
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
2015-01-01 Mancini C;Nassani S;Guo Y;Chen Y;Giorgio E;Brussino A;Di Gregorio E;Cavalieri S;Lo Buono N;Funaro A;Pizio NR;Nmezi B;Kyttala A;Santorelli FM;Padiath QS;Hakonarson H;Zhang H;Brusco A
AKR1C3 is a biomarker and druggable target for oropharyngeal tumors
2021-01-01 Peraldo-Neia C.; Ostano P.; Mello-Grand M.; Guana F.; Gregnanin I.; Boschi D.; Oliaro-Bosso S.; Pippione A.C.; Carenzo A.; De Cecco L.; Cavalieri S.; Micali A.; Perrone F.; Averono G.; Bagnasacco P.; Dosdegani R.; Masini L.; Krengli M.; Aluffi-Valletti P.; Valente G.; Chiorino G.
An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2
2015-01-01 Mancini, Cecilia; Orsi, Laura; Guo, Yiran; Li, Jiankang; Chen, Yulan; Wang, Fengxiang; Tian, Lifeng; Liu, Xuanzhu; Zhang, Jianguo; Jiang, Hui; Nmezi, Bruce Shike; Tatsuta, Takashi; Giorgio, Elisa; Di Gregorio, Eleonora; Cavalieri, Simona; Pozzi, Elisa; Mortara, Paolo; Caglio, Marcella Maria; Balducci, Alessandro; Pinessi, Lorenzo; Langer, Thomas; Padiath, Quasar S.; Hakonarson, Hakon; Zhang, Xiuqing; Brusco, Alfredo
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications
2015-01-01 Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro
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
Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia
2015-01-01 Squadrone, Stefania; Brizio, Paola; Mancini, Cecilia; Pozzi, Elisa; Cavalieri, Simona; Abete, Maria Cesarina; Brusco, Alfredo
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
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Cover Image, Volume 170A, Number 7, July 2016
2016-01-01 Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
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
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 |
|---|---|---|---|
| A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q | 2017 | Sirchia, Fabio; Di Gregorio, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo | |
| A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia | 2013 | Eleonora Di Gregorio; Federico T. Bianchi; Alfonso Schiavi; Alessandra M.A. Chiotto; Marco Rolando; Ludovica Verdun di Cantogno; Enrico Grosso; Simona Cavalieri ; Alessandro Calcia; Daniela Lacerenza; Orsetta Zuffardi; Saverio Francesco Retta; Giovanni Stevanin; Cecilia Marelli; Alexandra Durr; Sylvie Forlani; Jamel Chelly; Francesca Montarolo; Filippo Tempia; Hilary E. Beggs; Robin Reed; Stefania Squadrone; Maria C. Abete; Alessandro Brussino; Natascia Ventura; Ferdinando Di Cunto; Alfredo Brusco | |
| 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 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 novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity | 2016 | Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo | |
| A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) | 2017 | Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; 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 | |
| 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 | |
| Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations. | 2015 | Mancini C;Nassani S;Guo Y;Chen Y;Giorgio E;Brussino A;Di Gregorio E;Cavalieri S;Lo Buono N;Funaro A;Pizio NR;Nmezi B;Kyttala A;Santorelli FM;Padiath QS;Hakonarson H;Zhang H;Brusco A | |
| AKR1C3 is a biomarker and druggable target for oropharyngeal tumors | 2021 | Peraldo-Neia C.; Ostano P.; Mello-Grand M.; Guana F.; Gregnanin I.; Boschi D.; Oliaro-Bosso S.; Pippione A.C.; Carenzo A.; De Cecco L.; Cavalieri S.; Micali A.; Perrone F.; Averono G.; Bagnasacco P.; Dosdegani R.; Masini L.; Krengli M.; Aluffi-Valletti P.; Valente G.; Chiorino G. | |
| An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2 | 2015 | Mancini, Cecilia; Orsi, Laura; Guo, Yiran; Li, Jiankang; Chen, Yulan; Wang, Fengxiang; Tian, Lifeng; Liu, Xuanzhu; Zhang, Jianguo; Jiang, Hui; Nmezi, Bruce Shike; Tatsuta, Takashi; Giorgio, Elisa; Di Gregorio, Eleonora; Cavalieri, Simona; Pozzi, Elisa; Mortara, Paolo; Caglio, Marcella Maria; Balducci, Alessandro; Pinessi, Lorenzo; Langer, Thomas; Padiath, Quasar S.; Hakonarson, Hakon; Zhang, Xiuqing; Brusco, Alfredo | |
| Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications | 2015 | Di Gregorio, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni B; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro | |
| 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 | |
| Blood metal levels and related antioxidant enzyme activities in patients with ataxia telangiectasia | 2015 | Squadrone, Stefania; Brizio, Paola; Mancini, Cecilia; Pozzi, Elisa; Cavalieri, Simona; Abete, Maria Cesarina; Brusco, Alfredo | |
| 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 | |
| Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
| Cover Image, Volume 170A, Number 7, July 2016 | 2016 | Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| 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 | |
| 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 |