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Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BH, Rautenstrauss B, Reis A. Pasutto F, et al. Among authors: rautenstrauss b. Invest Ophthalmol Vis Sci. 2010 Jan;51(1):249-54. doi: 10.1167/iovs.09-3880. Epub 2009 Jul 30. Invest Ophthalmol Vis Sci. 2010. PMID: 19643970 Free article.
Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
Michels-Rautenstrauss K, Mardin C, Wakili N, Jünemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Ozbey S, Naumann GO, Reis A, Rautenstrauss B. Michels-Rautenstrauss K, et al. Among authors: rautenstrauss b. Hum Mutat. 2002 Dec;20(6):479-80. doi: 10.1002/humu.9092. Hum Mutat. 2002. PMID: 12442283
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. Among authors: rautenstrauss b. 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.
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma.
Pasutto F, Matsumoto T, Mardin CY, Sticht H, Brandstätter JH, Michels-Rautenstrauss K, Weisschuh N, Gramer E, Ramdas WD, van Koolwijk LM, Klaver CC, Vingerling JR, Weber BH, Kruse FE, Rautenstrauss B, Barde YA, Reis A. Pasutto F, et al. Among authors: rautenstrauss b. Am J Hum Genet. 2009 Oct;85(4):447-56. doi: 10.1016/j.ajhg.2009.08.016. Epub 2009 Sep 17. Am J Hum Genet. 2009. PMID: 19765683 Free PMC article.
127 results