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Page 1
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: giangregorio t. 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: giangregorio t. Brain. 2022 Jul 29;145(7):2313-2331. doi: 10.1093/brain/awac082. Brain. 2022. PMID: 35786744 Free PMC article.
Epilepsy and inborn errors of metabolism in adults: The diagnostic odyssey of a young woman with medium-chain acyl-coenzyme A dehydrogenase deficiency.
Cani I, Pondrelli F, Licchetta L, Minardi R, Giangregorio T, Mostacci B, Muccioli L, Di Vito L, Fetta A, Barba C, Castioni CA, Bordugo A, Tinuper P, Bisulli F. Cani I, et al. Among authors: giangregorio t. Epilepsia Open. 2022 Dec;7(4):810-816. doi: 10.1002/epi4.12630. Epub 2022 Aug 17. Epilepsia Open. 2022. PMID: 35869793 Free PMC article.
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman.
Palombo F, Al-Wardy N, Ruscone GA, Oppo M, Kindi MN, Angius A, Al Lamki K, Girotto G, Giangregorio T, Benelli M, Magi A, Seri M, Gasparini P, Cucca F, Sazzini M, Al Khabori M, Pippucci T, Romeo G. Palombo F, et al. Among authors: giangregorio t. J Hum Genet. 2017 Feb;62(2):259-264. doi: 10.1038/jhg.2016.120. Epub 2016 Oct 13. J Hum Genet. 2017. PMID: 27734841
12 results