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115 results

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Page 1
DNA Methylation in the Diagnosis of Monogenic Diseases.
Cerrato F, Sparago A, Ariani F, Brugnoletti F, Calzari L, Coppedè F, De Luca A, Gervasini C, Giardina E, Gurrieri F, Lo Nigro C, Merla G, Miozzo M, Russo S, Sangiorgi E, Sirchia SM, Squeo GM, Tabano S, Tabolacci E, Torrente I, Genuardi M, Neri G, Riccio A. Cerrato F, et al. Among authors: ariani f. Genes (Basel). 2020 Mar 26;11(4):355. doi: 10.3390/genes11040355. Genes (Basel). 2020. PMID: 32224912 Free PMC article. Review.
Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.
Longo I, Russo L, Meloni I, Ricci I, Ariani F, Pescucci C, Giordano CT, Canitano R, Hayek G, Zappella M, Neri G, Renieri A, Gurrieri F. Longo I, et al. Among authors: ariani f. Eur J Hum Genet. 2004 Aug;12(8):682-5. doi: 10.1038/sj.ejhg.5201198. Eur J Hum Genet. 2004. PMID: 15069458
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients.
Mantovani S, Daga S, Fallerini C, Baldassarri M, Benetti E, Picchiotti N, Fava F, Gallì A, Zibellini S, Bruttini M, Palmieri M, Croci S, Amitrano S, Alaverdian D, Capitani K, Furini S, Mari F, Meloni I; GEN-COVID Multicenter Study; Frullanti E, Mondelli MU, Renieri A. Mantovani S, et al. Genes Immun. 2022 Feb;23(1):51-56. doi: 10.1038/s41435-021-00157-1. Epub 2021 Dec 24. Genes Immun. 2022. PMID: 34952932 Free PMC article.
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A, Picchiotti N, Fallerini C, Baldassarri M, Fava F; GEN-COVID Multicenter Study; Colombo F, Chiaromonte F, Renieri A, Furini S, Raimondi F. Onoja A, et al. Commun Biol. 2022 Oct 26;5(1):1133. doi: 10.1038/s42003-022-04073-6. Commun Biol. 2022. PMID: 36289370 Free PMC article.
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death.
Minnai F, Biscarini F, Esposito M, Dragani TA, Bujanda L, Rahmouni S, Alarcón-Riquelme ME, Bernardo D, Carnero-Montoro E, Buti M, Zeberg H, Asselta R, Romero-Gómez M; GEN-COVID Multicenter Study; Fernandez-Cadenas I, Fallerini C, Zguro K, Croci S, Baldassarri M, Bruttini M, Furini S, Renieri A, Colombo F. Minnai F, et al. Sci Rep. 2024 Feb 6;14(1):3000. doi: 10.1038/s41598-024-53310-x. Sci Rep. 2024. PMID: 38321133 Free PMC article.
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Mari F, et al. Among authors: ariani f. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.
Advances in Alport syndrome diagnosis using next-generation sequencing.
Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M. Artuso R, et al. Among authors: ariani f. Eur J Hum Genet. 2012 Jan;20(1):50-7. doi: 10.1038/ejhg.2011.164. Epub 2011 Sep 7. Eur J Hum Genet. 2012. PMID: 21897443 Free PMC article.
Epigenetic and copy number variation analysis in retinoblastoma by MS-MLPA.
Livide G, Epistolato MC, Amenduni M, Disciglio V, Marozza A, Mencarelli MA, Toti P, Lazzi S, Hadjistilianou T, De Francesco S, D'Ambrosio A, Renieri A, Ariani F. Livide G, et al. Among authors: ariani f. Pathol Oncol Res. 2012 Jul;18(3):703-12. doi: 10.1007/s12253-012-9498-8. Epub 2012 Jan 26. Pathol Oncol Res. 2012. PMID: 22278416 Free article.
Revealing the complexity of a monogenic disease: rett syndrome exome sequencing.
Grillo E, Lo Rizzo C, Bianciardi L, Bizzarri V, Baldassarri M, Spiga O, Furini S, De Felice C, Signorini C, Leoncini S, Pecorelli A, Ciccoli L, Mencarelli MA, Hayek J, Meloni I, Ariani F, Mari F, Renieri A. Grillo E, et al. Among authors: ariani f. PLoS One. 2013;8(2):e56599. doi: 10.1371/journal.pone.0056599. Epub 2013 Feb 28. PLoS One. 2013. PMID: 23468869 Free PMC article.
115 results