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The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzàlez-Duarte R, Kaplan J, te Meerman GJ, Santos R, Schwartz M, Van Camp G, Wadelius C, Weber BH, Cremers FP. Maugeri A, et al. Among authors: weber bh. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624
A mouse model for Sorsby fundus dystrophy.
Weber BH, Lin B, White K, Kohler K, Soboleva G, Herterich S, Seeliger MW, Jaissle GB, Grimm C, Reme C, Wenzel A, Asan E, Schrewe H. Weber BH, et al. Invest Ophthalmol Vis Sci. 2002 Aug;43(8):2732-40. Invest Ophthalmol Vis Sci. 2002. PMID: 12147610
Central areolar choroidal dystrophy (CACD) and age-related macular degeneration (AMD): differentiating characteristics in multimodal imaging.
Smailhodzic D, Fleckenstein M, Theelen T, Boon CJ, van Huet RA, van de Ven JP, Den Hollander AI, Schmitz-Valckenberg S, Hoyng CB, Weber BH, Holz FG, Klevering BJ. Smailhodzic D, et al. Among authors: weber bh. Invest Ophthalmol Vis Sci. 2011 Nov 21;52(12):8908-18. doi: 10.1167/iovs.11-7926. Invest Ophthalmol Vis Sci. 2011. PMID: 22003107 Clinical Trial.
A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD).
Grassmann F, Friedrich U, Fauser S, Schick T, Milenkovic A, Schulz HL, von Strachwitz CN, Bettecken T, Lichtner P, Meitinger T, Arend N, Wolf A, Haritoglou C, Rudolph G, Chakravarthy U, Silvestri G, McKay GJ, Freitag-Wolf S, Krawczak M, Smith RT, Merriam JC, Merriam JE, Allikmets R, Heid IM, Weber BH. Grassmann F, et al. Among authors: weber bh. Neuromolecular Med. 2015 Jun;17(2):111-20. doi: 10.1007/s12017-015-8342-1. Epub 2015 Feb 14. Neuromolecular Med. 2015. PMID: 25680934 Free PMC article.
355 results