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Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration.
Magini P, Poscente M, Ferrari S, Vargiolu M, Bacchelli E, Graziano C, Wischmeijer A, Turchetti D, Malaspina E, Marchiani V, Cordelli DM, Franzoni E, Romeo G, Seri M. Magini P, et al. Mol Cytogenet. 2015 Aug 1;8:58. doi: 10.1186/s13039-015-0164-1. eCollection 2015. Mol Cytogenet. 2015. PMID: 26236399 Free PMC article.
EX-HOM (EXome HOMozygosity): a proof of principle.
Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G. Pippucci T, et al. Among authors: magini p. Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18. Hum Hered. 2011. PMID: 21849793 Free article.
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype.
Licchetta L, Pippucci T, Bisulli F, Cantalupo G, Magini P, Alvisi L, Baldassari S, Martinelli P, Naldi I, Vanni N, Liguori R, Seri M, Tinuper P. Licchetta L, et al. Among authors: magini p. Epilepsia. 2013 Jul;54(7):1298-306. doi: 10.1111/epi.12216. Epub 2013 May 11. Epilepsia. 2013. PMID: 23663087 Free article.
Array CGH analysis of a cohort of Russian patients with intellectual disability.
Kashevarova AA, Nazarenko LP, Skryabin NA, Salyukova OA, Chechetkina NN, Tolmacheva EN, Sazhenova EA, Magini P, Graziano C, Romeo G, Kučinskas V, Lebedev IN. Kashevarova AA, et al. Among authors: magini p. Gene. 2014 Feb 15;536(1):145-50. doi: 10.1016/j.gene.2013.11.029. Epub 2013 Nov 27. Gene. 2014. PMID: 24291026
58 results