Stöhr H - Search Results

1

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides.

Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Sangermano R, et al. Among authors: stohr h. Genet Med. 2019 Aug;21(8):1751-1760. doi: 10.1038/s41436-018-0414-9. Epub 2019 Jan 15. Genet Med. 2019. PMID: 30643219 Free PMC article.

2

A recombination event excludes the ROM1 locus from the Best's vitelliform macular dystrophy region.

Stöhr H, Weber BH. Stöhr H, et al. Hum Genet. 1995 Feb;95(2):219-22. doi: 10.1007/BF00209406. Hum Genet. 1995. PMID: 7860071

3

(ATTT)n-tetranucleotide repeat polymorphism in the 5'-flanking region of the UGB gene.

Stöhr H, Weber BH. Stöhr H, et al. Hum Mol Genet. 1994 Nov;3(11):2086. Hum Mol Genet. 1994. PMID: 7874146 No abstract available.

4

Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy.

Weber BH, Vogt G, Pruett RC, Stöhr H, Felbor U. Weber BH, et al. Among authors: stohr h. Nat Genet. 1994 Dec;8(4):352-6. doi: 10.1038/ng1294-352. Nat Genet. 1994. PMID: 7894485

5

High-resolution meiotic and physical mapping of the best vitelliform macular dystrophy (VMD2) locus to pericentromeric chromosome 11.

Weber BH, Vogt G, Stöhr H, Sander S, Walker D, Jones C. Weber BH, et al. Among authors: stohr h. Am J Hum Genet. 1994 Dec;55(6):1182-7. Am J Hum Genet. 1994. PMID: 7977378 Free PMC article.

6

A case of nonpenetrance in Best's disease.

Weber BH, Stöhr H, Walker D. Weber BH, et al. Among authors: stohr h. Am J Ophthalmol. 1994 Sep 15;118(3):398-9. doi: 10.1016/s0002-9394(14)72970-8. Am J Ophthalmol. 1994. PMID: 8085602 No abstract available.

7

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features.

Felbor U, Stöhr H, Amann T, Schönherr U, Weber BH. Felbor U, et al. Among authors: stohr h. Hum Mol Genet. 1995 Dec;4(12):2415-6. doi: 10.1093/hmg/4.12.2415. Hum Mol Genet. 1995. PMID: 8634721 No abstract available.

8

A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.

Felbor U, Stöhr H, Amann T, Schönherr U, Apfelstedt-Sylla E, Weber BH. Felbor U, et al. Among authors: stohr h. J Med Genet. 1996 Mar;33(3):233-6. doi: 10.1136/jmg.33.3.233. J Med Genet. 1996. PMID: 8728699 Free PMC article.

9

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: stohr h. Hum Mol Genet. 1998 Sep;7(9):1517-25. doi: 10.1093/hmg/7.9.1517. Hum Mol Genet. 1998. PMID: 9700209

10

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. Eur J Hum Genet. 1998 Jul-Aug;6(4):400-5. doi: 10.1038/sj.ejhg.5200196. Eur J Hum Genet. 1998. PMID: 9781049

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