Weber BHF - Search Results

1

Cost-effective molecular inversion probe-based ABCA4 sequencing reveals deep-intronic variants in Stargardt disease.

Khan M, Cornelis SS, Khan MI, Elmelik D, Manders E, Bakker S, Derks R, Neveling K, van de Vorst M, Gilissen C, Meunier I, Defoort S, Puech B, Devos A, Schulz HL, Stöhr H, Grassmann F, Weber BHF, Dhaenens CM, Cremers FPM. Khan M, et al. Among authors: weber bhf. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395

2

Genomic structure and assessment of the retinally expressed RFamide-related peptide gene in dominant cystoid macular dystrophy.

Schulz HL, Stoehr H, White K, van Driel MA, Hoyng CB, Cremers F, Weber BH. Schulz HL, et al. Mol Vis. 2002 Mar 19;8:67-71. Mol Vis. 2002. PMID: 11951088 Free article.

3

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. Eur J Hum Genet. 2002 Mar;10(3):197-203. doi: 10.1038/sj.ejhg.5200784. Eur J Hum Genet. 2002. PMID: 11973624

4

Identifying differentially expressed genes in the mammalian retina and the retinal pigment epithelium by suppression subtractive hybridization.

Schulz HL, Rahman FA, Fadl El Moula FM, Stojic J, Gehrig A, Weber BH. Schulz HL, et al. Cytogenet Genome Res. 2004;106(1):74-81. doi: 10.1159/000078564. Cytogenet Genome Res. 2004. PMID: 15218245

5

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

Krämer F, Stöhr H, Weber BH. Krämer F, et al. Cytogenet Genome Res. 2004;105(1):107-14. doi: 10.1159/000078016. Cytogenet Genome Res. 2004. PMID: 15218265

6

[VMD2 and its role in Best's disease and other retinopathies].

Stöhr H, Milenkowic V, Weber BH. Stöhr H, et al. Ophthalmologe. 2005 Feb;102(2):116-21. doi: 10.1007/s00347-004-1159-1. Ophthalmologe. 2005. PMID: 15627199 Review. German.

7

Molecular dissection of TIMP3 mutation S156C associated with Sorsby fundus dystrophy.

Fogarasi M, Janssen A, Weber BH, Stöhr H. Fogarasi M, et al. Matrix Biol. 2008 Jun;27(5):381-92. doi: 10.1016/j.matbio.2008.01.008. Epub 2008 Feb 5. Matrix Biol. 2008. PMID: 18295466

8

Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.

Janssen A, Hoellenriegel J, Fogarasi M, Schrewe H, Seeliger M, Tamm E, Ohlmann A, May CA, Weber BH, Stöhr H. Janssen A, et al. Invest Ophthalmol Vis Sci. 2008 Jul;49(7):2812-22. doi: 10.1167/iovs.07-1444. Epub 2008 Apr 11. Invest Ophthalmol Vis Sci. 2008. PMID: 18408187

9

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

10

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals.

Stöhr H, Heisig JB, Benz PM, Schöberl S, Milenkovic VM, Strauss O, Aartsen WM, Wijnholds J, Weber BH, Schulz HL. Stöhr H, et al. J Neurosci. 2009 May 27;29(21):6809-18. doi: 10.1523/JNEUROSCI.5546-08.2009. J Neurosci. 2009. PMID: 19474308 Free PMC article.

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