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Molecular Characterization of β-Thalassemia Mutations in Central Vietnam.
Doro MG, Casu G, Frogheri L, Persico I, Triet LPM, Hoa PTT, Hoang NH, Pirastru M, Mereu P, Cucca F, Masala B. Doro MG, et al. Among authors: persico i. Hemoglobin. 2017 Mar;41(2):96-99. doi: 10.1080/03630269.2017.1321013. Epub 2017 Jul 3. Hemoglobin. 2017. PMID: 28671035
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.
Angius A, Cossu S, Uva P, Oppo M, Onano S, Persico I, Fotia G, Atzeni R, Cuccuru G, Asunis M, Cucca F, Pruna D, Crisponi L. Angius A, et al. Among authors: persico i. Clin Genet. 2018 Jun;93(6):1245-1247. doi: 10.1111/cge.13162. Epub 2018 Feb 5. Clin Genet. 2018. PMID: 29399786
Identification of a founder BRCA2 mutation in Sardinia.
Pisano M, Cossu A, Persico I, Palmieri G, Angius A, Casu G, Palomba G, Sarobba MG, Rocca PC, Dedola MF, Olmeo N, Pasca A, Budroni M, Marras V, Pisano A, Farris A, Massarelli G, Pirastu M, Tanda F. Pisano M, et al. Among authors: persico i. Br J Cancer. 2000 Feb;82(3):553-9. doi: 10.1054/bjoc.1999.0963. Br J Cancer. 2000. PMID: 10682665 Free PMC article.
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L. Alves RM, et al. Among authors: persico i. BMC Med Genet. 2019 Jan 14;20(1):16. doi: 10.1186/s12881-019-0745-7. BMC Med Genet. 2019. PMID: 30642272 Free PMC article.
Application of a new method for GWAS in a related case/control sample with known pedigree structure: identification of new loci for nephrolithiasis.
Tore S, Casula S, Casu G, Concas MP, Pistidda P, Persico I, Sassu A, Maestrale GB, Mele C, Caruso MR, Bonerba B, Usai P, Deiana I, Thornton T, Pirastu M, Forabosco P. Tore S, et al. Among authors: persico i. PLoS Genet. 2011 Jan 20;7(1):e1001281. doi: 10.1371/journal.pgen.1001281. PLoS Genet. 2011. PMID: 21283782 Free PMC article.
Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Angius A, Uva P, Oppo M, Buers I, Persico I, Onano S, Cuccuru G, Van Allen MI, Hulait G, Aubertin G, Muntoni F, Fry AE, Annerén G, Stattin EL, Palomares-Bralo M, Santos-Simarro F, Cucca F, Crisponi G, Rutsch F, Crisponi L. Angius A, et al. Among authors: persico i. Clin Genet. 2019 May;95(5):607-614. doi: 10.1111/cge.13532. Epub 2019 Mar 28. Clin Genet. 2019. PMID: 30859550
Molecular basis of open-angle glaucoma in Italy.
Angius A, Pisano M, Sanca A, Casu G, Persico I, Pitzalis S, De Gioia E, Grignolo FM, Loi A, Sole G, Cao A, Spinelli P, Ghillotti G, Bonomi L, Fossarello M, Serra A, Gandolfi S, Alberti G, Maraini G, Serru A, Orzalesi N, Pirastu M. Angius A, et al. Among authors: persico i. Acta Ophthalmol Scand Suppl. 1998;(227):16-7. doi: 10.1111/j.1600-0420.1998.tb00865.x. Acta Ophthalmol Scand Suppl. 1998. PMID: 9972327
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Okada Y, Sim X, Go MJ, Wu JY, Gu D, Takeuchi F, Takahashi A, Maeda S, Tsunoda T, Chen P, Lim SC, Wong TY, Liu J, Young TL, Aung T, Seielstad M, Teo YY, Kim YJ, Lee JY, Han BG, Kang D, Chen CH, Tsai FJ, Chang LC, Fann SJ, Mei H, Rao DC, Hixson JE, Chen S, Katsuya T, Isono M, Ogihara T, Chambers JC, Zhang W, Kooner JS; KidneyGen Consortium; CKDGen Consortium; Albrecht E; GUGC consortium; Yamamoto K, Kubo M, Nakamura Y, Kamatani N, Kato N, He J, Chen YT, Cho YS, Tai ES, Tanaka T. Okada Y, et al. Nat Genet. 2012 Jul 15;44(8):904-9. doi: 10.1038/ng.2352. Nat Genet. 2012. PMID: 22797727 Free PMC article.
41 results