Weleber RG - Search Results

1

Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2.

Jakobs PM, Hess JF, FitzGerald PG, Kramer P, Weleber RG, Litt M. Jakobs PM, et al. Among authors: weleber rg. Am J Hum Genet. 2000 Apr;66(4):1432-6. doi: 10.1086/302872. Epub 2000 Mar 16. Am J Hum Genet. 2000. PMID: 10739768 Free PMC article.

2

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

3

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

4

Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3.

Carrero-Valenzuela RD, Klein ML, Weleber RG, Murphey WH, Litt M. Carrero-Valenzuela RD, et al. Among authors: weleber rg. Arch Ophthalmol. 1996 Jun;114(6):737-8. doi: 10.1001/archopht.1996.01100130729016. Arch Ophthalmol. 1996. PMID: 8639088

5

Molecular genetics of human blue cone monochromacy.

Nathans J, Davenport CM, Maumenee IH, Lewis RA, Hejtmancik JF, Litt M, Lovrien E, Weleber R, Bachynski B, Zwas F, et al. Nathans J, et al. Science. 1989 Aug 25;245(4920):831-8. doi: 10.1126/science.2788922. Science. 1989. PMID: 2788922

6

Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations.

Pillers DA, Fitzgerald KM, Duncan NM, Rash SM, White RA, Dwinnell SJ, Powell BR, Schnur RE, Ray PN, Cibis GW, Weleber RG. Pillers DA, et al. Among authors: weleber rg. Hum Genet. 1999 Jul-Aug;105(1-2):2-9. doi: 10.1007/s004399900111. Hum Genet. 1999. PMID: 10480348

7

Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.

Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR. Pillers DA, et al. Among authors: weleber rg. Am J Med Genet. 1990 May;36(1):23-8. doi: 10.1002/ajmg.1320360106. Am J Med Genet. 1990. PMID: 2159212

8

Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis.

Magenis RE, Sheehy RR, Brown MG, McDermid HE, White BN, Zonana J, Weleber R. Magenis RE, et al. Am J Med Genet. 1988 Jan;29(1):9-19. doi: 10.1002/ajmg.1320290103. Am J Med Genet. 1988. PMID: 3344779

9

Molecular genetic heterogeneity in autosomal dominant drusen.

Tarttelin EE, Gregory-Evans CY, Bird AC, Weleber RG, Klein ML, Blackburn J, Gregory-Evans K. Tarttelin EE, et al. Among authors: weleber rg. J Med Genet. 2001 Jun;38(6):381-4. doi: 10.1136/jmg.38.6.381. J Med Genet. 2001. PMID: 11389162 Free PMC article.

10

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

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