Weber BH - Search Results

1

Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies.

Felbor U, Gehrig A, Sauer CG, Marquardt A, Köhler M, Schmid M, Weber BH. Felbor U, et al. Among authors: weber bh. Cytogenet Cell Genet. 1998;81(1):12-7. doi: 10.1159/000015001. Cytogenet Cell Genet. 1998. PMID: 9691169

2

Positional cloning of the gene associated with X-linked juvenile retinoschisis.

Sauer CG, Gehrig A, Warneke-Wittstock R, Marquardt A, Ewing CC, Gibson A, Lorenz B, Jurklies B, Weber BH. Sauer CG, et al. Among authors: weber bh. Nat Genet. 1997 Oct;17(2):164-70. doi: 10.1038/ng1097-164. Nat Genet. 1997. PMID: 9326935

3

Transcript map of a 900-kb genomic region in Xp22.1-p22.2: identification of 12 novel genes.

Warneke-Wittstock R, Marquardt A, Gehrig A, Sauer CG, Gessler M, Weber BH. Warneke-Wittstock R, et al. Among authors: weber bh. Genomics. 1998 Jul 1;51(1):59-67. doi: 10.1006/geno.1998.5382. Genomics. 1998. PMID: 9693033

4

Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1).

Gehrig A, Felbor U, Kelsell RE, Hunt DM, Maumenee IH, Weber BH. Gehrig A, et al. Among authors: weber bh. J Med Genet. 1998 Aug;35(8):641-5. doi: 10.1136/jmg.35.8.641. J Med Genet. 1998. PMID: 9719369 Free PMC article.

5

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. Among authors: weber bh. Hum Genet. 1999 Jan;104(1):99-105. doi: 10.1007/s004390050917. Hum Genet. 1999. PMID: 10071200

6

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. Among authors: weber bh. Cytogenet Cell Genet. 2000;88(3-4):211-6. doi: 10.1159/000015552. Cytogenet Cell Genet. 2000. PMID: 10828591

7

EST mining of the UniGene dataset to identify retina-specific genes.

Stöhr H, Mah N, Schulz HL, Gehrig A, Fröhlich S, Weber BH. Stöhr H, et al. Among authors: weber bh. Cytogenet Cell Genet. 2000;91(1-4):267-77. doi: 10.1159/000056856. Cytogenet Cell Genet. 2000. PMID: 11173868

8

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family.

Stöhr H, Marquardt A, Nanda I, Schmid M, Weber BH. Stöhr H, et al. Among authors: weber bh. Eur J Hum Genet. 2002 Apr;10(4):281-4. doi: 10.1038/sj.ejhg.5200796. Eur J Hum Genet. 2002. PMID: 12032738

9

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. Nat Genet. 1994 Dec;8(4):352-6. doi: 10.1038/ng1294-352. Nat Genet. 1994. PMID: 7894485

10

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: weber bh. 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.

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