Weleber RG - Search Results

1

Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3.

Musarella MA, Weleber RG, Murphey WH, Young RS, Anson-Cartwright L, Mets M, Kraft SP, Polemeno R, Litt M, Worton RG. Musarella MA, et al. Among authors: weleber rg. Genomics. 1989 Nov;5(4):727-37. doi: 10.1016/0888-7543(89)90114-6. Genomics. 1989. PMID: 2574143

2

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, Birch DG, Miyake Y, Young RS, Bech-Hansen NT. Boycott KM, et al. Among authors: weleber rg. Am J Hum Genet. 1998 Apr;62(4):865-75. doi: 10.1086/301781. Am J Hum Genet. 1998. PMID: 9529339 Free PMC article.

3

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, Bergen AA, Prinsen CF, Polomeno RC, Gal A, Drack AV, Musarella MA, Jacobson SG, Young RS, Weleber RG. Bech-Hansen NT, et al. Among authors: weleber rg. Nat Genet. 2000 Nov;26(3):319-23. doi: 10.1038/81619. Nat Genet. 2000. PMID: 11062471

4

Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy.

Sigesmund DA, Weleber RG, Pillers DA, Westall CA, Panton CM, Powell BR, Héon E, Murphey WH, Musarella MA, Ray PN. Sigesmund DA, et al. Among authors: weleber rg. Ophthalmology. 1994 May;101(5):856-65. doi: 10.1016/s0161-6420(13)31249-4. Ophthalmology. 1994. PMID: 8190471

5

X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR.

Weleber RG, Butler NS, Murphey WH, Sheffield VC, Stone EM. Weleber RG, et al. Arch Ophthalmol. 1997 Nov;115(11):1429-35. doi: 10.1001/archopht.1997.01100160599013. Arch Ophthalmol. 1997. PMID: 9366675

6

Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene.

Weleber RG, Carr RE, Murphey WH, Sheffield VC, Stone EM. Weleber RG, et al. Arch Ophthalmol. 1993 Nov;111(11):1531-42. doi: 10.1001/archopht.1993.01090110097033. Arch Ophthalmol. 1993. PMID: 8240110

7

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.

Litt M, Kramer P, LaMorticella DM, Murphey W, Lovrien EW, Weleber RG. Litt M, et al. Among authors: weleber rg. Hum Mol Genet. 1998 Mar;7(3):471-4. doi: 10.1093/hmg/7.3.471. Hum Mol Genet. 1998. PMID: 9467006

8

A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa.

Sakuma H, Inana G, Murakami A, Yajima T, Weleber RG, Murphey WH, Gass JD, Hotta Y, Hayakawa M, Fujiki K, et al. Sakuma H, et al. Among authors: weleber rg. Genomics. 1995 May 20;27(2):384-6. doi: 10.1006/geno.1995.1066. Genomics. 1995. PMID: 7558016 Free article. No abstract available.

9

Mutation analysis of 3 genes in patients with Leber congenital amaurosis.

Lotery AJ, Namperumalsamy P, Jacobson SG, Weleber RG, Fishman GA, Musarella MA, Hoyt CS, Héon E, Levin A, Jan J, Lam B, Carr RE, Franklin A, Radha S, Andorf JL, Sheffield VC, Stone EM. Lotery AJ, et al. Among authors: weleber rg. Arch Ophthalmol. 2000 Apr;118(4):538-43. doi: 10.1001/archopht.118.4.538. Arch Ophthalmol. 2000. PMID: 10766140

10

A new locus for autosomal dominant congenital cataracts maps to chromosome 3.

Kramer PL, LaMorticella D, Schilling K, Billingslea AM, Weleber RG, Litt M. Kramer PL, et al. Among authors: weleber rg. Invest Ophthalmol Vis Sci. 2000 Jan;41(1):36-9. Invest Ophthalmol Vis Sci. 2000. PMID: 10634598

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