Retinitis pigmentosa: unfolding its mystery.

Por Berson, E L
Publicado em 1996

Ocular findings in a form of retinitis pigmentosa with a rhodopsin gene defect.

Por Berson, E L
Publicado em 1990

Plasma amino-acids in hereditary retinal disease. Ornithine, lysine, and taurine.

Por Berson, E. L., Schmidt, S. Y., Rabin, A. R.
Publicado em 1976

Autosomal dominant retinitis pigmentosa with rhodopsin, valine-345-methionine.

Por Berson, E L, Sandberg, M A, Dryja, T P
Publicado em 1991

Pyridoxine effects on ornithine ketoacid transaminase activity in fibroblasts from carriers of two forms of gyrate atrophy of the choroid and retina.

Por Shih, V E, Mandell, R, Berson, E L
Publicado em 1988

An ultrastructural study of nutritionally induced and reversed retinal degeneration in cats.

Por Hayes, K. C., Rabin, A. R., Berson, E. L.
Publicado em 1975

Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

Por Rivolta, C, Sweklo, E A, Berson, E L, Dryja, T P
Publicado em 2000

Ornithine ketoacid transaminase deficiency in gyrate atrophy of the choroid and retina.

Por Shih, V E, Berson, E L, Mandell, R, Schmidt, S Y
Publicado em 1978

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa.

Por McLaughlin, M E, Ehrhart, T L, Berson, E L, Dryja, T P
Publicado em 1995

No mutations in the coding region of the PRKCG gene in three families with retinitis pigmentosa linked to the RP11 locus on chromosome 19q.

Por Dryja, T P, McEvoy, J, McGee, T L, Berson, E L
Publicado em 1999

Constitutive activation of phototransduction by K296E opsin is not a cause of photoreceptor degeneration.

Por Li, T, Franson, W K, Gordon, J W, Berson, E L, Dryja, T P
Publicado em 1995

Evidence that the penetrance of mutations at the RP11 locus causing dominant retinitis pigmentosa is influenced by a gene linked to the homologous RP11 allele.

Por McGee, T L, Devoto, M, Ott, J, Berson, E L, Dryja, T P
Publicado em 1997

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

Por Dryja, T P, Hahn, L B, Cowley, G S, McGee, T L, Berson, E L
Publicado em 1991

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

Por Dryja, T P, Finn, J T, Peng, Y W, McGee, T L, Berson, E L, Yau, K W
Publicado em 1995

Novel insights into the contributions of isocitrate dehydrogenases to the Krebs cycle from patients with retinitis pigmentosa

Por Hartong, D.T., Dange, M., McGee, T.L., Berson, E.L., Dryja, T.P., Colman, R.F.
Publicado em 2008

Molecular basis of ornithine aminotransferase deficiency in B-6-responsive and -nonresponsive forms of gyrate atrophy.

Por Ramesh, V, McClatchey, A I, Ramesh, N, Benoit, L A, Berson, E L, Shih, V E, Gusella, J F
Publicado em 1988

Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.

Por McClatchey, A I, Kaufman, D L, Berson, E L, Tobin, A J, Shih, V E, Gusella, J F, Ramesh, V
Publicado em 1990