MAGINI, PAMELA
Dettaglio
MAGINI, PAMELA
DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE
Collaboratori
Pubblicazioni
Risultati 1 - 20 di 31 (tempo di esecuzione: 0.001 secondi).
Titolo | Autore(i) | Anno | Periodico | Editore | Tipo | File | |
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1 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
2 | 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 | HUMAN MOLECULAR GENETICS | 1.01 Articolo in rivista | - | |
3 | 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 | MOLECULAR DIAGNOSIS & THERAPY | 1.01 Articolo in rivista | - | |
4 | 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 | CLINICAL CASES AND REVIEWS IN EPILEPSY | 1.01 Articolo in rivista | - | |
5 | 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 | AMERICAN JOURNAL OF MEDICAL GENETICS. PART A | 1.01 Articolo in rivista | - | |
6 | 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 | BLOOD | 1.01 Articolo in rivista | - | |
7 | 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 | EPILEPSIA | 1.01 Articolo in rivista | - | |
8 | 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 | GENE | 1.01 Articolo in rivista | - | |
9 | 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 | HUMAN MOLECULAR GENETICS | 1.01 Articolo in rivista | - | |
10 | 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 | MOLECULAR CYTOGENETICS | 1.01 Articolo in rivista | ||
11 | 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 | HUMAN HEREDITY | 1.01 Articolo in rivista | - | |
12 | 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 | GENOME BIOLOGY | 1.01 Articolo in rivista | - | |
13 | 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 | HUMAN GENETICS | 1.01 Articolo in rivista | - | |
14 | 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 | HUMAN MUTATION | 1.01 Articolo in rivista | - | |
15 | 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 | EMBO MOLECULAR MEDICINE | 1.01 Articolo in rivista | ||
16 | LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). | Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T | 2014 | EPILEPSY RESEARCH | 1.01 Articolo in rivista | - | |
17 | Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis | Magini P.; Smits D.J.; Vandervore L.; Schot R.; Columbaro M.; Kasteleijn E.; van der Ent M.; Palo...mbo F.; Lequin M.H.; Dremmen M.; de Wit M.C.Y.; Severino M.; Divizia M.T.; Striano P.; Ordonez-Herrera N.; Alhashem A.; Al Fares A.; Al Ghamdi M.; Rolfs A.; Bauer P.; Demmers J.; Verheijen F.W.; Wilke M.; van Slegtenhorst M.; van der Spek P.J.; Seri M.; Jansen A.C.; Stottmann R.W.; Hufnagel R.B.; Hopkin R.J.; Aljeaid D.; Wiszniewski W.; Gawlinski P.; Laure-Kamionowska M.; Alkuraya F.S.; Akleh H.; Stanley V.; Musaev D.; Gleeson J.G.; Zaki M.S.; Brunetti-Pierri N.; Cappuccio G.; Davidov B.; Basel-Salmon L.; Bazak L.; Shahar N.R.; Bertoli-Avella A.; Mirzaa G.M.; Dobyns W.B.; Pippucci T.; Fornerod M.; Mancini G.M.S. | 2019 | AMERICAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
18 | Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome | Kuechler, Alma; Zink, Alexander M.; Wieland, Thomas; Lüdecke, Hermann-Josef; Cremer, Kirsten; Sal...viati, Leonardo; Magini, Pamela; Najafi, Kimia; Zweier, Christiane; Czeschik, Johanna Christina; Aretz, Stefan; Endele, Sabine; Tamburrino, Federica; Pinato, Claudia; Clementi, Maurizio; Gundlach, Jasmin; Maylahn, Carina; Mazzanti, Laura; Wohlleber, Eva; Schwarzmayr, Thomas; Kariminejad, Roxana; Schlessinger, Avner; Wieczorek, Dagmar; Strom, Tim M.; Novarino, Gaia; Engels, Hartmut | 2015 | EUROPEAN JOURNAL OF HUMAN GENETICS | 1.01 Articolo in rivista | - | |
19 | Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients. | Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu... M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC | 2014 | EMBO MOLECULAR MEDICINE | 1.01 Articolo in rivista | ||
20 | Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers | F. Guerra; I. Kurelac; P. Magini; A. Cormio; D. Santini; C. Ceccarelli; G. Gasparre | 2011 | GYNECOLOGIC ONCOLOGY | 1.01 Articolo in rivista | - |