Sfoglia per Autore
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
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
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
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, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans
2016-01-01 Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo
Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38)
2016-01-01 Borroni, Barbara; Di Gregorio, Eleonora; Orsi, Laura; Vaula, Giovanna; Costanzi, Chiara; Tempia, Filippo; Mitro, Nico; Caruso, Donatella; Manes, Marta; Pinessi, Lorenzo; Padovani, Alessandro; Brusco, Alfredo; Boccone, Loredana
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
Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment
2015-01-01 Eleonora Di Gregorio; Marta Ferrero; Neftj Ragusa; Federica Gottardi; Paolo Costa; Adele Zoppo; Eriola Hoxha; Filippo Tempia; Loredana Boccone; Nico Mitro; Donatella Caruso; Alfredo Brusco; Barbara Borroni
Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models
2015-01-01 Pietro Cortelli; Alfredo Brusco; A. Brussino; Elisa Giorgio; Stylianos E. Antonarakis; Len Pennacchio; Malte Spielmann; Eleonora Di Gregorio; Sabina Capellari; Anna Bartoletti Stella; Rossana Terlizzi; Piero Parchi; Rocco Liguori;Stefano Zanigni; Caterina Tonon; Raffele Lodi; Giovanna Vaula; Andrea Contestabile; Sameehan Mahajani; Caterina Giacomini; Laura Gasparini
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
Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
2015-01-01 Giorgio E;Vaula G;Bosco G;Giacone S;Mancini C;Calcia A;Cavalieri S;Di Gregorio E;Rigault De Longrais R;Leombruni S;Pinessi L;Cerrato P;Brusco A;Brussino A
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
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)
2015-01-01 Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo
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
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.
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
9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion
2014-01-01 D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco
Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans
2014-01-01 G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. 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
A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation.
2014-01-01 Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A
Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings
2014-01-01 Di Gregorio, E.; Grosso, E.; Amione, M. C.; D‘alessandro, G.; Carbone, A.; Paradiso, M. C.; Scopacasa, T.; Pappi, P.; Talarico, F.; Brusco, A.; Bracco, Cecilia
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples | 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, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
| Heterozygous deletion of KLHL1/ATX8OS at the SCA8 locus is unlikely associated with cerebellar impairment in humans | 2016 | Mandrile, Giorgia; Di Gregorio, Eleonora; Goel, Himanshu; Giachino, Daniela; De Mercanti, Stefania; Iudicello, Marco; Rolando, Marco; Losa, Sabrina; De Marchi, Mario; Brusco, Alfredo | |
| Clinical and neuroradiological features of spinocerebellar ataxia 38 (SCA38) | 2016 | Borroni, Barbara; Di Gregorio, Eleonora; Orsi, Laura; Vaula, Giovanna; Costanzi, Chiara; Tempia, Filippo; Mitro, Nico; Caruso, Donatella; Manes, Marta; Pinessi, Lorenzo; Padovani, Alessandro; Brusco, Alfredo; Boccone, Loredana | |
| 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 | |
| Unraveling molecular pathogenesis of SCA38, a novel autosomal dominant ataxia with a possible treatment | 2015 | Eleonora Di Gregorio; Marta Ferrero; Neftj Ragusa; Federica Gottardi; Paolo Costa; Adele Zoppo; Eriola Hoxha; Filippo Tempia; Loredana Boccone; Nico Mitro; Donatella Caruso; Alfredo Brusco; Barbara Borroni | |
| Clinical, neuroradiological and molecular investigation of Adult-onset Autosomal Dominant LeukoDystrophy (ADLD): dissection of Lamin B1-mediated pathophysiological mechanisms in cellular and mouse models | 2015 | Pietro Cortelli; Alfredo Brusco; A. Brussino; Elisa Giorgio; Stylianos E. Antonarakis; Len Pennacchio; Malte Spielmann; Eleonora Di Gregorio; Sabina Capellari; Anna Bartoletti Stella; Rossana Terlizzi; Piero Parchi; Rocco Liguori;Stefano Zanigni; Caterina Tonon; Raffele Lodi; Giovanna Vaula; Andrea Contestabile; Sameehan Mahajani; Caterina Giacomini; Laura Gasparini | |
| 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 | |
| Two families with novel missense mutations in COL4A1: When diagnosis can be missed. | 2015 | Giorgio E;Vaula G;Bosco G;Giacone S;Mancini C;Calcia A;Cavalieri S;Di Gregorio E;Rigault De Longrais R;Leombruni S;Pinessi L;Cerrato P;Brusco A;Brussino A | |
| 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 | |
| A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) | 2015 | Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio, Len A.; Antonarakis, Stylianos E.; Brussino, Alessandro; Brusco, Alfredo | |
| 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 | |
| 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. | |
| 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 | |
| 9p deletion syndrome-like in a girl with a 9p insertion on chromosome 2 without 9p deletion | 2014 | D. Carli; G. Mandrile; E. Savin; G. Rivalta; M. Rolando; D. F. Giachino; E. Di Gregorio; A. Brusco | |
| Heterozygous deletion of KLHL1/ATXN8OS at the SCA8 locus are likely not associated with cerebellar impairment in humans | 2014 | G. Mandrile; E. Di Gregorio; H. Goel; D. F. Giachino; S. De Mercanti; M. Iudicello; S. Losa; M. Rolando; L. Ranum; M. De Marchi; A. 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 | |
| A new case of 13q12.2q13.1 microdeletion syndrome contributes to phenotype delineation. | 2014 | Mandrile G;Di Gregorio E;Calcia A;Brussino A;Grosso E;Savin E;Giachino DF;Brusco A | |
| Oligodontia segregating with a 7p21.2p21.1 ∼ Mb duplication in an Italian family with three affected siblings | 2014 | Di Gregorio, E.; Grosso, E.; Amione, M. C.; D‘alessandro, G.; Carbone, A.; Paradiso, M. C.; Scopacasa, T.; Pappi, P.; Talarico, F.; Brusco, A.; Bracco, Cecilia |
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