Weber BH - Search Results

1

Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q.

Kelsell RE, Gregory-Evans K, Gregory-Evans CY, Holder GE, Jay MR, Weber BH, Moore AT, Bird AC, Hunt DM. Kelsell RE, et al. Among authors: weber bh. Am J Hum Genet. 1998 Jul;63(1):274-9. doi: 10.1086/301905. Am J Hum Genet. 1998. PMID: 9634506 Free PMC article. No abstract available.

2

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.

3

Sorsby's fundus dystrophy in the British Isles: demonstration of a striking founder effect by microsatellite-generated haplotypes.

Wijesuriya SD, Evans K, Jay MR, Davison C, Weber BH, Bird AC, Bhattacharya SS, Gregory CY. Wijesuriya SD, et al. Among authors: weber bh. Genome Res. 1996 Feb;6(2):92-101. doi: 10.1101/gr.6.2.92. Genome Res. 1996. PMID: 8919688 Free article.

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. Am J Hum Genet. 1994 Dec;55(6):1182-7. Am J Hum Genet. 1994. PMID: 7977378 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

Autosomal recessive Sorsby fundus dystrophy revisited: molecular evidence for dominant inheritance.

Felbor U, Suvanto EA, Forsius HR, Eriksson AW, Weber BH. Felbor U, et al. Among authors: weber bh. Am J Hum Genet. 1997 Jan;60(1):57-62. Am J Hum Genet. 1997. PMID: 8981947 Free PMC article.

7

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.

Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH. Nasonkin I, et al. Among authors: weber bh. Hum Genet. 1998 Jan;102(1):21-6. doi: 10.1007/s004390050649. Hum Genet. 1998. PMID: 9490294

8

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

9

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter.

Weber BH, Vogt G, Wolz W, Ives EJ, Ewing CC. Weber BH, et al. Nat Genet. 1994 Jun;7(2):158-61. doi: 10.1038/ng0694-158. Nat Genet. 1994. PMID: 7920634

10

An ancestral core haplotype defines the critical region harbouring the North Carolina macular dystrophy gene (MCDR1).

Sauer CG, Schworm HD, Ulbig M, Blankenagel A, Rohrschneider K, Pauleikhoff D, Grimm T, Weber BH. Sauer CG, et al. Among authors: weber bh. J Med Genet. 1997 Dec;34(12):961-6. doi: 10.1136/jmg.34.12.961. J Med Genet. 1997. PMID: 9429134 Free PMC article.

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