Stöhr H - 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: stohr h. Hum Mutat. 2019 Oct;40(10):1749-1759. doi: 10.1002/humu.23787. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31212395

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

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.

5

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.

6

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. Genome Res. 1998 Jan;8(1):48-56. doi: 10.1101/gr.8.1.48. Genome Res. 1998. PMID: 9445487 Free PMC article.

7

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

8

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

9

Mapping and genomic characterization of the gene encoding diacylglycerol kinase gamma (DAGK3): assessment of its role in dominant optic atrophy (OPA1).

Stöhr H, Klein J, Gehrig A, Koehler MR, Jurklies B, Kellner U, Leo-Kottler B, Schmid M, Weber BH. Stöhr H, et al. Hum Genet. 1999 Jan;104(1):99-105. doi: 10.1007/s004390050917. Hum Genet. 1999. PMID: 10071200

10

cDNA cloning and genomic structure of a novel gene (C11orf9) localized to chromosome 11q12-->q13.1 which encodes a highly conserved, potential membrane-associated protein.

Stöhr H, Marquardt A, White K, Weber BH. Stöhr H, et al. Cytogenet Cell Genet. 2000;88(3-4):211-6. doi: 10.1159/000015552. Cytogenet Cell Genet. 2000. PMID: 10828591

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