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Analysis of genetically determined gene expression suggests role of inflammatory processes in exfoliation syndrome.
Hirbo JB, Pasutto F, Gamazon ER, Evans P, Pawar P, Berner D, Sealock J, Tao R, Straub PS, Konkashbaev AI, Breyer MA, Schlötzer-Schrehardt U, Reis A, Brantley MA Jr, Khor CC, Joos KM, Cox NJ. Hirbo JB, et al. Among authors: pasutto f. BMC Genomics. 2023 Feb 16;24(1):75. doi: 10.1186/s12864-023-09179-7. BMC Genomics. 2023. PMID: 36797672 Free PMC article.
Absence of NR2E1 mutations in patients with aniridia.
Corso-Díaz X, Borrie AE, Bonaguro R, Schuetz JM, Rosenberg T, Jensen H, Brooks BP, Macdonald IM, Pasutto F, Walter MA, Grønskov K, Brooks-Wilson A, Simpson EM. Corso-Díaz X, et al. Among authors: pasutto f. Mol Vis. 2012;18:2770-82. Epub 2012 Nov 22. Mol Vis. 2012. PMID: 23213277 Free PMC article.
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
Souma T, Tompson SW, Thomson BR, Siggs OM, Kizhatil K, Yamaguchi S, Feng L, Limviphuvadh V, Whisenhunt KN, Maurer-Stroh S, Yanovitch TL, Kalaydjieva L, Azmanov DN, Finzi S, Mauri L, Javadiyan S, Souzeau E, Zhou T, Hewitt AW, Kloss B, Burdon KP, Mackey DA, Allen KF, Ruddle JB, Lim SH, Rozen S, Tran-Viet KN, Liu X, John S, Wiggs JL, Pasutto F, Craig JE, Jin J, Quaggin SE, Young TL. Souma T, et al. Among authors: pasutto f. J Clin Invest. 2016 Jul 1;126(7):2575-87. doi: 10.1172/JCI85830. Epub 2016 Jun 6. J Clin Invest. 2016. PMID: 27270174 Free PMC article.
Profiling of WDR36 missense variants in German patients with glaucoma.
Pasutto F, Mardin CY, Michels-Rautenstrauss K, Weber BH, Sticht H, Chavarria-Soley G, Rautenstrauss B, Kruse F, Reis A. Pasutto F, et al. Invest Ophthalmol Vis Sci. 2008 Jan;49(1):270-4. doi: 10.1167/iovs.07-0500. Invest Ophthalmol Vis Sci. 2008. PMID: 18172102 Free article.
Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.
Krumbiegel M, Pasutto F, Mardin CY, Weisschuh N, Paoli D, Gramer E, Zenkel M, Weber BH, Kruse FE, Schlötzer-Schrehardt U, Reis A. Krumbiegel M, et al. Among authors: pasutto f. Invest Ophthalmol Vis Sci. 2009 Jun;50(6):2796-801. doi: 10.1167/iovs.08-2339. Epub 2009 Jan 31. Invest Ophthalmol Vis Sci. 2009. PMID: 19182256 Free article.
109 results