Lewis RA - Search Results

1

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM, Daiger SP, Bowne SJ, Rodriquez JA, Northrup H, Heckenlively JR, Birch DG, Mintz-Hittner H, Ruiz RS, Lewis RA, Saperstein DA, Sullivan LS. Sohocki MM, et al. Among authors: lewis ra. Hum Mutat. 2001;17(1):42-51. doi: 10.1002/1098-1004(2001)17:1<42::AID-HUMU5>3.0.CO;2-K. Hum Mutat. 2001. PMID: 11139241 Free PMC article.

2

DNA linkage studies of degenerative retinal diseases.

Daiger SP, Heckenlively JR, Lewis RA, Pelias MZ. Daiger SP, et al. Among authors: lewis ra. Prog Clin Biol Res. 1987;247:147-62. Prog Clin Biol Res. 1987. PMID: 3317443 Review.

3

Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.

Northrup H, Kwiatkowski DJ, Roach ES, Dobyns WB, Lewis RA, Herman GE, Rodriguez E Jr, Daiger SP, Blanton SH. Northrup H, et al. Among authors: lewis ra. Am J Hum Genet. 1992 Oct;51(4):709-20. Am J Hum Genet. 1992. PMID: 1415216 Free PMC article.

4

Variability of expression in tuberous sclerosis.

Northrup H, Wheless JW, Bertin TK, Lewis RA. Northrup H, et al. Among authors: lewis ra. J Med Genet. 1993 Jan;30(1):41-3. doi: 10.1136/jmg.30.1.41. J Med Genet. 1993. PMID: 8423606 Free PMC article.

5

Genetic heterogeneity among blue-cone monochromats.

Nathans J, Maumenee IH, Zrenner E, Sadowski B, Sharpe LT, Lewis RA, Hansen E, Rosenberg T, Schwartz M, Heckenlively JR, et al. Nathans J, et al. Among authors: lewis ra. Am J Hum Genet. 1993 Nov;53(5):987-1000. Am J Hum Genet. 1993. PMID: 8213841 Free PMC article.

6

A novel locus for Leber congenital amaurosis on chromosome 14q24.

Stockton DW, Lewis RA, Abboud EB, Al-Rajhi A, Jabak M, Anderson KL, Lupski JR. Stockton DW, et al. Among authors: lewis ra. Hum Genet. 1998 Sep;103(3):328-33. doi: 10.1007/s004390050825. Hum Genet. 1998. PMID: 9799089

7

Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa.

Shroyer NF, Lewis RA, Yatsenko AN, Lupski JR. Shroyer NF, et al. Among authors: lewis ra. Invest Ophthalmol Vis Sci. 2001 Nov;42(12):2757-61. Invest Ophthalmol Vis Sci. 2001. PMID: 11687513

8

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

Shroyer NF, Lewis RA, Yatsenko AN, Wensel TG, Lupski JR. Shroyer NF, et al. Among authors: lewis ra. Hum Mol Genet. 2001 Nov 1;10(23):2671-8. doi: 10.1093/hmg/10.23.2671. Hum Mol Genet. 2001. PMID: 11726554

9

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

Yatsenko AN, Shroyer NF, Lewis RA, Lupski JR. Yatsenko AN, et al. Among authors: lewis ra. Hum Genet. 2001 Apr;108(4):346-55. doi: 10.1007/s004390100493. Hum Genet. 2001. PMID: 11379881

10

Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.

Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Bassi MT, et al. Among authors: lewis ra. Hum Genet. 2001 Jan;108(1):51-4. doi: 10.1007/s004390000440. Hum Genet. 2001. PMID: 11214907

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