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Targeted whole exome sequencing and Drosophila modelling to unveil the molecular basis of primary ovarian insufficiency.
Bestetti I, Barbieri C, Sironi A, Specchia V, Yatsenko SA, De Donno MD, Caslini C, Gentilini D, Crippa M, Larizza L, Marozzi A, Rajkovic A, Toniolo D, Bozzetti MP, Finelli P. Bestetti I, et al. Among authors: gentilini d. Hum Reprod. 2021 Oct 18;36(11):2975-2991. doi: 10.1093/humrep/deab192. Hum Reprod. 2021. PMID: 34480478 Free PMC article.
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Cogliati F, Giorgini V, Masciadri M, Bonati MT, Marchi M, Cracco I, Gentilini D, Peron A, Savini MN, Spaccini L, Scelsa B, Maitz S, Veneselli E, Prato G, Pintaudi M, Moroni I, Vignoli A, Larizza L, Russo S. Cogliati F, et al. Among authors: gentilini d. Int J Mol Sci. 2019 Jul 24;20(15):3621. doi: 10.3390/ijms20153621. Int J Mol Sci. 2019. PMID: 31344879 Free PMC article.
Homozygosity Haplotype and Whole-Exome Sequencing Analysis to Identify Potentially Functional Rare Variants Involved in Multiple Sclerosis among Sardinian Families.
Fazia T, Marzanati D, Carotenuto AL, Beecham A, Hadjixenofontos A, McCauley JL, Saddi V, Piras M, Bernardinelli L, Gentilini D. Fazia T, et al. Among authors: gentilini d. Curr Issues Mol Biol. 2021 Oct 27;43(3):1778-1793. doi: 10.3390/cimb43030125. Curr Issues Mol Biol. 2021. PMID: 34889895 Free PMC article.
Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith-Wiedemann progeny.
Tannorella P, Calzari L, Daolio C, Mainini E, Vimercati A, Gentilini D, Soli F, Pedrolli A, Bonati MT, Larizza L, Russo S. Tannorella P, et al. Among authors: gentilini d. Clin Epigenetics. 2022 Mar 22;14(1):43. doi: 10.1186/s13148-022-01262-2. Clin Epigenetics. 2022. PMID: 35317853 Free PMC article.
118 results