Birch DG - Search Results

1

Advancing Clinical Trials for Inherited Retinal Diseases: Recommendations from the Second Monaciano Symposium.

Thompson DA, Iannaccone A, Ali RR, Arshavsky VY, Audo I, Bainbridge JWB, Besirli CG, Birch DG, Branham KE, Cideciyan AV, Daiger SP, Dalkara D, Duncan JL, Fahim AT, Flannery JG, Gattegna R, Heckenlively JR, Heon E, Jayasundera KT, Khan NW, Klassen H, Leroy BP, Molday RS, Musch DC, Pennesi ME, Petersen-Jones SM, Pierce EA, Rao RC, Reh TA, Sahel JA, Sharon D, Sieving PA, Strettoi E, Yang P, Zacks DN; Monaciano Consortium. Thompson DA, et al. Among authors: birch dg. Transl Vis Sci Technol. 2020 Jun 3;9(7):2. doi: 10.1167/tvst.9.7.2. eCollection 2020 Jun. Transl Vis Sci Technol. 2020. PMID: 32832209 Free PMC article. Review.

2

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Blanton SH, Cepko CL, Blackshaw S, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: birch dg. Hum Mol Genet. 2002 Mar 1;11(5):559-68. doi: 10.1093/hmg/11.5.559. Hum Mol Genet. 2002. PMID: 11875050 Free PMC article.

3

Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3.

Cideciyan AV, Jacobson SG, Gupta N, Osawa S, Locke KG, Weiss ER, Wright AF, Birch DG, Milam AH. Cideciyan AV, et al. Among authors: birch dg. Invest Ophthalmol Vis Sci. 2003 Mar;44(3):1268-74. doi: 10.1167/iovs.02-0494. Invest Ophthalmol Vis Sci. 2003. PMID: 12601058

4

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Bowne SJ, Daiger SP, Malone KA, Heckenlively JR, Kennan A, Humphries P, Hughbanks-Wheaton D, Birch DG, Liu Q, Pierce EA, Zuo J, Huang Q, Donovan DD, Sullivan LS. Bowne SJ, et al. Among authors: birch dg. Mol Vis. 2003 Apr 24;9:129-37. Mol Vis. 2003. PMID: 12724644 Free PMC article.

5

Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.

Fishman GA, Jacobson SG, Alexander KR, Cideciyan AV, Birch DG, Weleber RG, Hood DC. Fishman GA, et al. Among authors: birch dg. Retina. 2005 Sep;25(6):772-7. doi: 10.1097/00006982-200509000-00014. Retina. 2005. PMID: 16141867 Review. No abstract available.

6

Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa.

Sullivan LS, Bowne SJ, Seaman CR, Blanton SH, Lewis RA, Heckenlively JR, Birch DG, Hughbanks-Wheaton D, Daiger SP. Sullivan LS, et al. Among authors: birch dg. Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88. doi: 10.1167/iovs.06-0440. Invest Ophthalmol Vis Sci. 2006. PMID: 17003455 Free PMC article.

7

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.

Gire AI, Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Gire AI, et al. Among authors: birch dg. Mol Vis. 2007 Oct 17;13:1970-5. Mol Vis. 2007. PMID: 17982421

8

Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP).

Daiger SP, Sullivan LS, Gire AI, Birch DG, Heckenlively JR, Bowne SJ. Daiger SP, et al. Among authors: birch dg. Adv Exp Med Biol. 2008;613:203-9. doi: 10.1007/978-0-387-74904-4_23. Adv Exp Med Biol. 2008. PMID: 18188946 Free PMC article. No abstract available.

9

Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Gire AI, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: birch dg. Mol Vis. 2008 May 19;14:922-7. Mol Vis. 2008. PMID: 18509552 Free PMC article.

10

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: birch dg. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.

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