Weber BHF - Search Results

1

Y chromosome mosaicism is associated with age-related macular degeneration.

Grassmann F, Kiel C, den Hollander AI, Weeks DE, Lotery A, Cipriani V, Weber BHF; International Age-related Macular Degeneration Genomics Consortium (IAMDGC). Grassmann F, et al. Among authors: weber bhf. Eur J Hum Genet. 2019 Jan;27(1):36-41. doi: 10.1038/s41431-018-0238-8. Epub 2018 Aug 29. Eur J Hum Genet. 2019. PMID: 30158665 Free PMC article.

2

An update on the genetics of age-related macular degeneration.

Scholl HP, Fleckenstein M, Charbel Issa P, Keilhauer C, Holz FG, Weber BH. Scholl HP, et al. Mol Vis. 2007 Feb 7;13:196-205. Mol Vis. 2007. PMID: 17327825 Free PMC article. Review.

3

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

Fritsche LG, Loenhardt T, Janssen A, Fisher SA, Rivera A, Keilhauer CN, Weber BH. Fritsche LG, et al. Nat Genet. 2008 Jul;40(7):892-6. doi: 10.1038/ng.170. Epub 2008 May 30. Nat Genet. 2008. PMID: 18511946

4

Systemic complement activation in age-related macular degeneration.

Scholl HP, Charbel Issa P, Walier M, Janzer S, Pollok-Kopp B, Börncke F, Fritsche LG, Chong NV, Fimmers R, Wienker T, Holz FG, Weber BH, Oppermann M. Scholl HP, et al. PLoS One. 2008 Jul 2;3(7):e2593. doi: 10.1371/journal.pone.0002593. PLoS One. 2008. PMID: 18596911 Free PMC article.

5

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene.

Fritsche LG, Freitag-Wolf S, Bettecken T, Meitinger T, Keilhauer CN, Krawczak M, Weber BH. Fritsche LG, et al. Hum Mutat. 2009 Jul;30(7):1048-53. doi: 10.1002/humu.20957. Hum Mutat. 2009. PMID: 19384966

6

Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa.

Langmann T, Di Gioia SA, Rau I, Stöhr H, Maksimovic NS, Corbo JC, Renner AB, Zrenner E, Kumaramanickavel G, Karlstetter M, Arsenijevic Y, Weber BH, Gal A, Rivolta C. Langmann T, et al. Am J Hum Genet. 2010 Sep 10;87(3):376-81. doi: 10.1016/j.ajhg.2010.07.018. Epub 2010 Aug 12. Am J Hum Genet. 2010. PMID: 20705278 Free PMC article.

7

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

Krumbiegel M, Pasutto F, Schlötzer-Schrehardt U, Uebe S, Zenkel M, Mardin CY, Weisschuh N, Paoli D, Gramer E, Becker C, Ekici AB, Weber BH, Nürnberg P, Kruse FE, Reis A. Krumbiegel M, et al. Eur J Hum Genet. 2011 Feb;19(2):186-93. doi: 10.1038/ejhg.2010.144. Epub 2010 Sep 1. Eur J Hum Genet. 2011. PMID: 20808326 Free PMC article.

8

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).

Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C. Fritsche LG, et al. Hum Mol Genet. 2010 Dec 1;19(23):4694-704. doi: 10.1093/hmg/ddq399. Epub 2010 Sep 15. Hum Mol Genet. 2010. PMID: 20843825

9

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Friedrich U, Myers CA, Fritsche LG, Milenkovich A, Wolf A, Corbo JC, Weber BH. Friedrich U, et al. Hum Mol Genet. 2011 Apr 1;20(7):1387-99. doi: 10.1093/hmg/ddr020. Epub 2011 Jan 20. Hum Mol Genet. 2011. PMID: 21252205 Free PMC article.

10

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins.

Keilhauer CN, Fritsche LG, Weber BH. Keilhauer CN, et al. Ophthalmic Genet. 2011 Nov;32(4):237-44. doi: 10.3109/13816810.2011.592177. Epub 2011 Jul 8. Ophthalmic Genet. 2011. PMID: 21740222

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