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Towards a Long-Read Sequencing Approach for the Molecular Diagnosis of RPGRORF15 Genetic Variants.
Bonetti G, Cozza W, Bernini A, Kaftalli J, Mareso C, Cristofoli F, Medori MC, Colombo L, Martella S, Staurenghi G, Salvetti AP, Falsini B, Placidi G, Attanasio M, Pertile G, Bengala M, Bosello F, Petracca A, D'Esposito F, Toschi B, Lanzetta P, Ricci F, Viola F, Marceddu G, Bertelli M. Bonetti G, et al. Among authors: marceddu g. Int J Mol Sci. 2023 Nov 28;24(23):16881. doi: 10.3390/ijms242316881. Int J Mol Sci. 2023. PMID: 38069202 Free PMC article.
Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes.
Ricci M, Compagna R, Amato B, Kenanoglu S, Veselenyiova D, Kurti D, Baglivo M, Basha SH, Serrani R, Miggiano GAD, Aquilanti B, Matera G, Marceddu G, Velluti V, Gagliardi L, Dundar M, Krajcovic J, Bertelli M. Ricci M, et al. Among authors: marceddu g. Int J Genomics. 2020 Aug 25;2020:3781791. doi: 10.1155/2020/3781791. eCollection 2020. Int J Genomics. 2020. PMID: 32908855 Free PMC article.
Male Infertility Diagnosis: Improvement of Genetic Analysis Performance by the Introduction of Pre-Diagnostic Genes in a Next-Generation Sequencing Custom-Made Panel.
Precone V, Cannarella R, Paolacci S, Busetto GM, Beccari T, Stuppia L, Tonini G, Zulian A, Marceddu G, Calogero AE, Bertelli M. Precone V, et al. Among authors: marceddu g. Front Endocrinol (Lausanne). 2021 Jan 26;11:605237. doi: 10.3389/fendo.2020.605237. eCollection 2020. Front Endocrinol (Lausanne). 2021. PMID: 33574797 Free PMC article.
A simultaneous next-generation sequencing approach to the diagnosis of couple infertility.
Precone V, Notarangelo A, Marceddu G, D'Agruma L, Cannarella R, Calogero AE, Cristofoli F, Guerri G, Paolacci S, Castori M, Bertelli M. Precone V, et al. Among authors: marceddu g. Minerva Endocrinol (Torino). 2022 Mar;47(1):4-10. doi: 10.23736/S2724-6507.21.03477-1. Epub 2021 May 14. Minerva Endocrinol (Torino). 2022. PMID: 33988008
Spectral-Domain Optical Coherence Tomography Analysis in Syndromic and Nonsyndromic Forms of Retinitis Pigmentosa due to USH2A Genetic Variants.
Colombo L, Maltese PE, Romano D, Fogagnolo P, Castori M, Marceddu G, Cristofoli F, Percio M, Piteková B, Modarelli AM, Bertelli M, Rossetti L. Colombo L, et al. Among authors: marceddu g. Ophthalmic Res. 2022;65(2):180-195. doi: 10.1159/000520329. Epub 2021 Nov 15. Ophthalmic Res. 2022. PMID: 34781295 Free article.
61 results