1 - 25 of 64 results for author:"Berson E.L." in Literature citations
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| NMNAT1 mutations cause Leber congenital amaurosis. Falk M.J., Zhang Q., Nakamaru-Ogiso E., Kannabiran C., Fonseca-Kelly Z., Chakarova C., Audo I., Mackay D.S., Zeitz C., Borman A.D. et al. |
| Genotype-phenotype correlations in Bardet-Biedl syndrome. Daniels A.B., Sandberg M.A., Chen J., Weigel-DiFranco C., Fielding Hejtmancic J., Berson E.L. Arch. Ophthalmol. 130:901-907(2012) · Mapped (8) |
| Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase. Bonilha V.L., Rayborn M.E., Li Y., Grossman G.H., Berson E.L., Hollyfield J.G. Invest. Ophthalmol. Vis. Sci. 52:8381-8392(2011) · Mapped (3) |
| Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Benaglio P., McGee T.L., Capelli L.P., Harper S., Berson E.L., Rivolta C. Hum. Mutat. 32:E2246-E2258(2011) · UniProtKB (1) · Mapped (9) |
| A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa. Tanackovic G., Ransijn A., Ayuso C., Harper S., Berson E.L., Rivolta C. Am. J. Hum. Genet. 88:643-649(2011) · UniProtKB (1) |
| PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa. Tanackovic G., Ransijn A., Thibault P., Abou Elela S., Klinck R., Berson E.L., Chabot B., Rivolta C. Hum. Mol. Genet. 20:2116-2130(2011) · Mapped (16) |
| Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. McGee T.L., Seyedahmadi B.J., Sweeney M.O., Dryja T.P., Berson E.L. J. Med. Genet. 47:499-506(2010) · Mapped (1) |
| Search for a correlation between telomere length and severity of retinitis pigmentosa due to the dominant rhodopsin Pro23His mutation. Hartong D.T., McGee T.L., Sandberg M.A., Berson E.L., Asselbergs F.W., van der Harst P., De Vivo I., Dryja T.P. Mol. Vis. 15:592-597(2009) · Mapped (1) |
| A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. den Hollander A.I., McGee T.L., Ziviello C., Banfi S., Dryja T.P., Gonzalez-Fernandez F., Ghosh D., Berson E.L. Invest. Ophthalmol. Vis. Sci. 50:1864-1872(2009) · Mapped (2) |
| Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Hartong D.T., Dange M., McGee T.L., Berson E.L., Dryja T.P., Colman R.F. Nat. Genet. 40:1230-1234(2008) · UniProtKB (1) |
| Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Sandberg M.A., Rosner B., Weigel-DiFranco C., McGee T.L., Dryja T.P., Berson E.L. Invest. Ophthalmol. Vis. Sci. 49:5532-5539(2008) · Mapped (1) |
| Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. Rio Frio T., Wade N.M., Ransijn A., Berson E.L., Beckmann J.S., Rivolta C. J. Clin. Invest. 118:1519-1531(2008) · Mapped (5) |
| Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Thiagalingam S., McGee T.L., Weleber R.G., Sandberg M.A., Trzupek K.M., Berson E.L., Dryja T.P. Ophthalmic Genet. 28:135-142(2007) · Mapped (2) |
| Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa. Sweeney M.O., McGee T.L., Berson E.L., Dryja T.P. Mol. Vis. 13:588-593(2007) · Mapped (1) |
| Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Sandberg M.A., Rosner B., Weigel-DiFranco C., Dryja T.P., Berson E.L. Invest. Ophthalmol. Vis. Sci. 48:1298-1304(2007) · Mapped (5) |
| Mutation screening of the peropsin gene, a retinal pigment epithelium specific rhodopsin homolog, in patients with retinitis pigmentosa and allied diseases. Rivolta C., Berson E.L., Dryja T.P. Mol. Vis. 12:1511-1515(2006) · Mapped (1) |
| A screen for mutations in the transducin gene GNB1 in patients with autosomal dominant retinitis pigmentosa. Mylvaganam G.H., McGee T.L., Berson E.L., Dryja T.P. Mol. Vis. 12:1496-1498(2006) · Mapped (6) |
| Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Wada Y., Sandberg M.A., McGee T.L., Stillberger M.A., Berson E.L., Dryja T.P. Invest. Ophthalmol. Vis. Sci. 46:1735-1741(2005) · Mapped (9) |
| Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Dryja T.P., McGee T.L., Berson E.L., Fishman G.A., Sandberg M.A., Alexander K.R., Derlacki D.J., Rajagopalan A.S. Proc. Natl. Acad. Sci. U.S.A. 102:4884-4889(2005) · UniProtKB (1) |
| Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P. |
| Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Nishiguchi K.M., Friedman J.S., Sandberg M.A., Swaroop A., Berson E.L., Dryja T.P. Proc. Natl. Acad. Sci. U.S.A. 101:17819-17824(2004) · UniProtKB (1) |
| A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Nishiguchi K.M., Sokal I., Yang L., Roychowdhury N., Palczewski K., Berson E.L., Dryja T.P., Baehr W. Invest. Ophthalmol. Vis. Sci. 45:3863-3870(2004) · UniProtKB (1) · Mapped (4) |
| Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Seyedahmadi B.J., Rivolta C., Keene J.A., Berson E.L., Dryja T.P. Exp. Eye Res. 79:167-173(2004) · UniProtKB (1) |
| Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nishiguchi K.M., Sandberg M.A., Kooijman A.C., Martemyanov K.A., Pott J.W.R., Hagstrom S.A., Arshavsky V.Y., Berson E.L., Dryja T.P. |
| RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Sharon D., Sandberg M.A., Rabe V.W., Stillberger M., Dryja T.P., Berson E.L. Am. J. Hum. Genet. 73:1131-1146(2003) · UniProtKB (2) · Mapped (1) |