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, Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31., «EPILEPSIA», 2014, 55, pp. 841 - 848 [articolo]
Magini P;Bisulli F;Baldassari S;Stipa C;Naldi I;Licchetta L;Menghi V;Tinuper P;Seri M;Pippucci T, LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF)., «EPILEPSY RESEARCH», 2014, 108, pp. 972 - 977 [articolo]
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, Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 795 - 809 [articolo]Open Access
Mucciolo, M; Magini, P; Marozza, A; Mongelli, P; Mencarelli, Ma; Hayek, G; Tavalazzi, F; Mari, F; Seri, M; Renieri, A; Graziano, C., 9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2014, 164A, pp. 685 - 690 [articolo]
Laura Licchetta; Tommaso Pippucci; Francesca Bisulli; Gaetano Cantalupo; Pamela Magini; Lara Alvisi; Sara Baldassari; Paolo Martinelli; Ilaria Naldi; Nicola Vanni; Rocco Liguori; Marco Seri; Paolo Tinuper, A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype, «EPILEPSIA», 2013, 54, pp. 1298 - 1306 [articolo]
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, EXCAVATOR: detecting copy number variants from whole-exome sequencing data., «GENOME BIOLOGY», 2013, 14, pp. 1 - 18 [articolo]
Graziano C; David M; Magini P; Superti-Furga A; Seri M., An additional family with association of hereditary thrombocytosis and transverse limb deficiency: confirmation of a rare clinical spectrum., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2012, 158A, pp. 3211 - 3213 [articolo]
Colina M; Pippucci T; Moro MA; Marconi C; Magini P; Ciancio G; Romeo G; Trotta F; Seri M., Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved?, «CLINICAL AND EXPERIMENTAL RHEUMATOLOGY», 2012, 30(3), pp. 451 - 451 [articolo]
Magini P; Monica MD; Uzielli ML; Mongelli P; Scarselli G; Gambineri E; Scarano G; Seri M., Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2012, 158A, pp. 917 - 921 [articolo]
Pippucci T.; Benelli M.; Magi A.; Martelli P.L.; Magini P.; Torricelli F.; Casadio R.; Seri M.; Romeo G., EX-HOM (EXome-HOMozygosity): a proof of principle, «HUMAN HEREDITY», 2011, 72, pp. 45 - 53 [articolo]
F. Guerra; I. Kurelac; P. Magini; A. Cormio; D. Santini; C. Ceccarelli; G. Gasparre, Mitochondrial DNA genotyping reveals synchronous nature of simultaneously detected endometrial and ovarian cancers, «GYNECOLOGIC ONCOLOGY», 2011, 122(2), pp. 457 - 458 [articolo]
Pippucci T;Savoia A;Perrotta S;Pujol-Moix N;Noris P;Castegnaro G;Pecci A;Gnan C;Punzo F;Marconi C;Gherardi S;Loffredo G;De Rocco D;Scianguetta S;Barozzi S;Magini P;Bozzi V;Dezzani L;Di Stazio M;Ferraro M;Perini G;Seri M;Balduini CL, Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2, «AMERICAN JOURNAL OF HUMAN GENETICS», 2011, 88, pp. 115 - 120 [articolo]
Wischmeijer A;Magini P;Giorda R;Gnoli M;Ciccone R;Cecconi L;Franzoni E;Mazzanti L;Romeo G;Zuffardi O;Seri M, Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype., «MOLECULAR SYNDROMOLOGY», 2011, 1, pp. 176 - 184 [articolo]
Pradella LM; Zuntini R; Magini P; Ceccarelli C; Neri I; Cerasoli S; Graziano C; Gasparre G; Turchetti D, Two distinct thyroid tumours in a Cowden Syndrome patient carrying both a 10q23 and a mitochondrial DNA germline deletion, «JOURNAL OF MEDICAL GENETICS», 2011, 48(11), pp. 779 - 782 [articolo]
Graziano C; Carone S; Panza E; Marino F; Magini P; Romeo G; Pession A; Seri M., Association of hereditary thrombocythemia and distal limb defects with a thrombopoietin gene mutation., «BLOOD», 2009, 114, pp. 1655 - 1657 [articolo]
