MAGINI, PAMELA
MAGINI, PAMELA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Collaboratori
9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?
2014-01-01 Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, M; Renieri, A; Graziano, C.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
2014-01-01 Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cenacchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes
2020-01-01 Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L.; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F.
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases
2016-01-01 Stipa, Carlotta; Licchetta, Laura; Farolfi, A; Paccagnella, E; Magini, P; Pippucci, T; Leta, C; Menghi, V; Ferri, L; Mostacci, B; Tinuper, Paolo; Bisulli, Francesca
An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum.
2012-01-01 Graziano C; David M; Magini P; Superti-Furga A; Seri M.
Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation.
2009-01-01 Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M.
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31.
2014-01-01 Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri M;Gonçalves Silva GE;Tinuper P;Pippucci T
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
2020-01-01 Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; Cantalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M.
Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature
2021-01-01 Zama D.; Muratore E.; Giannetti A.; Neri I.; Conti F.; Magini P.; Ferrari S.; Pession A.
Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders
2019-01-01 Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano
Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5)
2021-01-01 Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco A.; Graziano C.
Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034
2017-01-01 Bartoletti-Stella, Anna; Gasparini, Laura; Giacomini, Caterina; Corrado, Patrizia; Terlizzi, Rossana; Giorgio, Elisa; Magini, Pamela; Seri, Marco; Baruzzi, Agostino; Parchi, Piero; Brusco, Alfredo; Cortelli, Pietro; Capellari, Sabina
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration
2015-01-01 Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano, Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco
EX-HOM (EXome-HOMozygosity): a proof of principle
2011-01-01 Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G.
EXCAVATOR: detecting copy number variants from whole-exome sequencing data.
2013-01-01 Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magini P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF
Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells
2020-01-01 Bertulli C.; Marzollo A.; Doria M.; Cesare S.D.; La Scola C.; Mencarelli F.; Pasini A.; Affinita M.C.; Vidal E.; Magini P.; Dimartino P.; Masetti R.; Greco L.; Palomba P.; Conti F.; Pession A.
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
2019-01-01 Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiello G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C.
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks
2016-01-01 Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano, Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy
2015-01-01 T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
2021-01-01 Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E.
| Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File |
|---|---|---|---|---|---|---|
| 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome? | Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F;... Seri, M; Renieri, A; Graziano, C. | 2014-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. | Magini P;Pippucci T;Tsai IC;Coppola S;Stellacci E;Bartoletti-Stella A;Turchetti D;Graziano C;Cena...cchi G;Neri I;Cordelli DM;Marchiani V;Bergamaschi R;Gasparre G;Neri G;Mazzanti L;Patrizi A;Franzoni E;Romeo G;Bordo D;Tartaglia M;Katsanis N;Seri M | 2014-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
| Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes | Dimartino P.; Mariani V.; Marconi C.; Minardi R.; Bramerio M.; Licchetta L.; Menghi V.; Morandi L....; Magini P.; Mongelli P.; Cardinale F.; Seri M.; Tinuper P.; Tassi L.; Pippucci T.; Bisulli F. | 2020-01-01 | MOLECULAR DIAGNOSIS & THERAPY | - | 1.01 Articolo in rivista | - |
| Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases | Stipa, Carlotta; Licchetta, Laura; Farolfi, A; Paccagnella, E; Magini, P; Pippucci, T; Leta, C; M...enghi, V; Ferri, L; Mostacci, B; Tinuper, Paolo; Bisulli, Francesca | 2016-01-01 | CLINICAL CASES AND REVIEWS IN EPILEPSY | - | 1.01 Articolo in rivista | - |
| An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum. | Graziano C; David M; Magini P; Superti-Furga A; Seri M. | 2012-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation. | Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M. | 2009-01-01 | BLOOD | - | 1.01 Articolo in rivista | - |
| Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. | Bisulli F;Naldi I;Baldassari S;Magini P;Licchetta L;Castegnaro G;Fabbri M;Stipa C;Ferrari S;Seri ...M;Gonçalves Silva GE;Tinuper P;Pippucci T | 2014-01-01 | EPILEPSIA | - | 1.01 Articolo in rivista | - |
| Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East | Palombo F.; Graziano C.; Al Wardy N.; Nouri N.; Marconi C.; Magini P.; Severi G.; La Morgia C.; C...antalupo G.; Cordelli D.M.; Gangarossa S.; Al Kindi M.N.; Al Khabouri M.; Salehi M.; Giorgio E.; Brusco A.; Pisani F.; Romeo G.; Carelli V.; Pippucci T.; Seri M. | 2020-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| Case Report: Hereditary Alpha Tryptasemia in Children: A Pediatric Case Series and a Brief Overview of Literature | Zama D.; Muratore E.; Giannetti A.; Neri I.; Conti F.; Magini P.; Ferrari S.; Pession A. | 2021-01-01 | FRONTIERS IN PEDIATRICS | - | 1.01 Articolo in rivista | fped-09-716786.pdf |
| Challenges in the clinical interpretation of small de novo copy number variants in neurodevelopmental disorders |
Pamela Magini, Emanuela Scarano, Ilaria Donati, Alberto Sensi, Laura Mazzanti, Annamaria Perri, ...Federica Tamburrino, Patrizia Mongelli, Antonio Percesepe, Paola Visconti, Antonia Parmeggiani, Marco Seri, Claudio Graziano |
2019-01-01 | GENE | - | 1.01 Articolo in rivista | - |
| Clinical spectrum and follow-up in six individuals with Lamb–Shaffer syndrome (SOX5) | Innella G.; Greco D.; Carli D.; Magini P.; Giorgio E.; Galesi O.; Ferrero G.B.; Romano C.; Brusco... A.; Graziano C. | 2021-01-01 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | - | 1.01 Articolo in rivista | - |
| Corrigendum: Messenger RNA processing is altered in autosomal dominant leukodystrophy [Human Molecular Genetics, 24 (2015) (2746-2756)] DOI:10.1093/hmg/ddv034 | Bartoletti-Stella, Anna; Gasparini, Laura; Giacomini, Caterina; Corrado, Patrizia; Terlizzi, Ross...ana; Giorgio, Elisa; Magini, Pamela; Seri, Marco; Baruzzi, Agostino; Parchi, Piero; Brusco, Alfredo; Cortelli, Pietro; Capellari, Sabina | 2017-01-01 | HUMAN MOLECULAR GENETICS | - | 1.01 Articolo in rivista | - |
| Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration | Magini, Pamela; Poscente, Monica; Ferrari, Simona; Vargiolu, Manuela; Bacchelli, Elena; Graziano,... Claudio; Wischmeijer, Anita; Turchetti, Daniela; Malaspina, Elisabetta; Marchiani, Valentina; Cordelli, Duccio Maria; Franzoni, Emilio; Romeo, Giovanni; Seri, Marco | 2015-01-01 | MOLECULAR CYTOGENETICS | - | 1.01 Articolo in rivista | Magini P et al Recombinant X Chromosome.pdf |
| EX-HOM (EXome-HOMozygosity): a proof of principle | Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; R...omeo G. | 2011-01-01 | HUMAN HEREDITY | - | 1.01 Articolo in rivista | - |
| EXCAVATOR: detecting copy number variants from whole-exome sequencing data. | Magi A;Tattini L;Cifola I;D'Aurizio R;Benelli M;Mangano E;Battaglia C;Bonora E;Kurg A;Seri M;Magi...ni P;Giusti B;Romeo G;Pippucci T;De Bellis G;Abbate R;Gensini GF | 2013-01-01 | GENOME BIOLOGY | - | 1.01 Articolo in rivista | - |
| Expanding phenotype of schimke immuno-osseous dysplasia: Congenital anomalies of the kidneys and of the urinary tract and alteration of nk cells | Bertulli C.; Marzollo A.; Doria M.; Cesare S.D.; La Scola C.; Mencarelli F.; Pasini A.; Affinita ...M.C.; Vidal E.; Magini P.; Dimartino P.; Masetti R.; Greco L.; Palomba P.; Conti F.; Pession A. | 2020-01-01 | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES | - | 1.01 Articolo in rivista | - |
| Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders | Negri G.; Magini P.; Milani D.; Crippa M.; Biamino E.; Piccione M.; Sotgiu S.; Perria C.; Vitiell...o G.; Frontali M.; Boni A.; Di Fede E.; Gandini M.C.; Colombo E.A.; Bamshad M.J.; Nickerson D.A.; Smith J.D.; Loddo I.; Finelli P.; Seri M.; Pippucci T.; Larizza L.; Gervasini C. | 2019-01-01 | HUMAN GENETICS | - | 1.01 Articolo in rivista | - |
| From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks | Negri, Gloria; Magini, Pamela; Milani, Donatella; Colapietro, Patrizia; Rusconi, Daniela; Scarano..., Emanuela; Bonati, Maria Teresa; Priolo, Manuela; Crippa, Milena; Mazzanti, Laura; Wischmeijer, Anita; Tamburrino, Federica; Pippucci, Tommaso; Finelli, Palma; Larizza, Lidia; Gervasini, Cristina | 2016-01-01 | HUMAN MUTATION | - | 1.01 Articolo in rivista | - |
| Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy | T. Pippucci;A. Maresca;P. Magini;G. Cenacchi;V. Donadio;F. Palombo;V. Papa;A. Incensi;G. Gasparre...;M. L. Valentino;C. Preziuso;A. Pisano;M. Ragno;R. Liguori;C. Giordano;C. Tonon;R. Lodi;A. Parmeggiani;V. Carelli;M. Seri | 2015-01-01 | EMBO MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | Homozygous NOTCH3 null mutation and impaired.pdf; Supporting Information.zip |
| An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. | Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC..., Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. | 2021-01-01 | JOURNAL OF CELLULAR AND MOLECULAR MEDICINE | - | 1.01 Articolo in rivista | jcmm.16161.pdf |