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Page 1
Familial DMRT1-related non-obstructive azoospermia: a case report.
Severi G, Ambrosini E, Caramanna L, Monti L, Magini P, Innella G. Severi G, et al. Among authors: magini p. J Assist Reprod Genet. 2024 Nov;41(11):3173-3177. doi: 10.1007/s10815-024-03250-2. Epub 2024 Sep 11. J Assist Reprod Genet. 2024. PMID: 39259317 Free PMC article.
Characterization of BRCA Deficiency in Ovarian Cancer.
Barbero G, Zuntini R, Magini P, Desiderio L, Bonaguro M, Perrone AM, Rubino D, Grippa M, De Leo A, Ceccarelli C, Godino L, Miccoli S, Ferrari S, Santini D, De Iaco P, Zamagni C, Innella G, Turchetti D. Barbero G, et al. Among authors: magini p. Cancers (Basel). 2023 Feb 28;15(5):1530. doi: 10.3390/cancers15051530. Cancers (Basel). 2023. PMID: 36900320 Free PMC article.
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC, Locatelli C, Mattina T, Bonaglia MC, Piazza F, Magini P, Antonaros F, Ramacieri G, Vione B, Vitale L, Seri M, Strippoli P, Cocchi G, Piovesan A, Caracausi M. Pelleri MC, et al. Among authors: magini p. BMC Med Genomics. 2022 Dec 21;15(1):266. doi: 10.1186/s12920-022-01422-6. BMC Med Genomics. 2022. PMID: 36544206 Free PMC article.
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C, Pecci A, Palombo F, Melazzini F, Bottega R, Nardi E, Bozzi V, Faleschini M, Barozzi S, Giangregorio T, Magini P, Balduini CL, Savoia A, Seri M, Noris P, Pippucci T. Marconi C, et al. Among authors: magini p. Haematologica. 2023 Jul 1;108(7):1909-1919. doi: 10.3324/haematol.2022.280993. Haematologica. 2023. PMID: 36519321 Free PMC article.
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L, Kochlamazashvili G, Baldassari S, Mackintosh AI, Licchetta L, Iovino E, Liu YC, Bennett CA, Bennett MF, Damiano JA, Zsurka G, Marconi C, Giangregorio T, Magini P, Kuijpers M, Maritzen T, Norata GD, Baulac S, Canafoglia L, Seri M, Tinuper P, Scheffer IE, Bahlo M, Berkovic SF, Hildebrand MS, Kunz WS, Giordano L, Bisulli F, Martini M, Haucke V, Hirsch E, Pippucci T. Gozzelino L, et al. Among authors: magini p. Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082. Brain. 2022. PMID: 35786744 Free PMC article.
HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations.
Hirsch N, Dahan I, D'haene E, Avni M, Vergult S, Vidal-García M, Magini P, Graziano C, Severi G, Bonora E, Nardone AM, Brancati F, Fernández-Jaén A, Rory OJ, Hallgrímsson B, Birnbaum RY. Hirsch N, et al. Among authors: magini p. Genome Res. 2022 Jul;32(7):1242-1253. doi: 10.1101/gr.276196.121. Epub 2022 Jun 16. Genome Res. 2022. PMID: 35710300 Free PMC article.
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: magini p. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
59 results