Rivera A - Search Results

1

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease).

Marquardt A, Stöhr H, Passmore LA, Krämer F, Rivera A, Weber BH. Marquardt A, et al. Among authors: rivera a. Hum Mol Genet. 1998 Sep;7(9):1517-25. doi: 10.1093/hmg/7.9.1517. Hum Mol Genet. 1998. PMID: 9700209

2

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane.

Milenkovic VM, Rivera A, Horling F, Weber BH. Milenkovic VM, et al. Among authors: rivera a. J Biol Chem. 2007 Jan 12;282(2):1313-21. doi: 10.1074/jbc.M607383200. Epub 2006 Nov 15. J Biol Chem. 2007. PMID: 17110374 Free article.

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. Among authors: rivera a. Nat Genet. 2008 Jul;40(7):892-6. doi: 10.1038/ng.170. Epub 2008 May 30. Nat Genet. 2008. PMID: 18511946

4

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH. Rivera A, et al. Hum Mol Genet. 2005 Nov 1;14(21):3227-36. doi: 10.1093/hmg/ddi353. Epub 2005 Sep 20. Hum Mol Genet. 2005. PMID: 16174643

5

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH. Rivera A, et al. Am J Hum Genet. 2000 Oct;67(4):800-13. doi: 10.1086/303090. Epub 2000 Aug 24. Am J Hum Genet. 2000. PMID: 10958763 Free PMC article.

6

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.

Krämer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schütt F, Holz FG, Weber BH. Krämer F, et al. Among authors: rivera a. Eur J Hum Genet. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447. Eur J Hum Genet. 2000. PMID: 10854112

7

Refined mapping of the gene encoding the p127 kDa UV-damaged DNA-binding protein (DDB1) within 11q12-q13.1 and its exclusion in Best's vitelliform macular dystrophy.

Stöhr H, Marquardt A, Rivera A, Kellner U, Weber BH. Stöhr H, et al. Among authors: rivera a. Eur J Hum Genet. 1998 Jul-Aug;6(4):400-5. doi: 10.1038/sj.ejhg.5200196. Eur J Hum Genet. 1998. PMID: 9781049

8

A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1.

Stöhr H, Marquardt A, Rivera A, Cooper PR, Nowak NJ, Shows TB, Gerhard DS, Weber BH. Stöhr H, et al. Among authors: rivera a. Genome Res. 1998 Jan;8(1):48-56. doi: 10.1101/gr.8.1.48. Genome Res. 1998. PMID: 9445487 Free PMC article.

9

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD).

Fisher SA, Rivera A, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Rudolph G, Weber BH. Fisher SA, et al. Among authors: rivera a. Hum Mutat. 2007 Apr;28(4):406-13. doi: 10.1002/humu.20464. Hum Mutat. 2007. PMID: 17216616

10

[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].

Rudolph G, Kalpadakis P, Haritoglou C, Rivera A, Weber BH. Rudolph G, et al. Among authors: rivera a. Klin Monbl Augenheilkd. 2002 Aug;219(8):590-6. doi: 10.1055/s-2002-34425. Klin Monbl Augenheilkd. 2002. PMID: 12353176 German.

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