MAGINI, PAMELA

MAGINI, PAMELA  

DIPARTIMENTO DI SCIENZE MEDICHE E CHIRURGICHE  

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Risultati 1 - 20 di 36 (tempo di esecuzione: 0.034 secondi).
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.pdfSupporting 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