Birch DG - Search Results

1

Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing.

Bowne SJ, Sullivan LS, Koboldt DC, Ding L, Fulton R, Abbott RM, Sodergren EJ, Birch DG, Wheaton DH, Heckenlively JR, Liu Q, Pierce EA, Weinstock GM, Daiger SP. Bowne SJ, et al. Among authors: birch dg. Invest Ophthalmol Vis Sci. 2011 Jan 25;52(1):494-503. doi: 10.1167/iovs.10-6180. Invest Ophthalmol Vis Sci. 2011. PMID: 20861475 Free PMC article.

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

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.

4

Visual function in breast-fed term infants weaned to formula with or without long-chain polyunsaturates at 4 to 6 months: a randomized clinical trial.

Hoffman DR, Birch EE, Castañeda YS, Fawcett SL, Wheaton DH, Birch DG, Uauy R. Hoffman DR, et al. Among authors: birch ee, birch dg. J Pediatr. 2003 Jun;142(6):669-77. doi: 10.1067/mpd.2003.213. J Pediatr. 2003. PMID: 12838196 Clinical Trial.

5

Cone and rod ERG phototransduction parameters in retinitis pigmentosa.

Tzekov RT, Locke KG, Hood DC, Birch DG. Tzekov RT, et al. Among authors: birch dg. Invest Ophthalmol Vis Sci. 2003 Sep;44(9):3993-4000. doi: 10.1167/iovs.02-1104. Invest Ophthalmol Vis Sci. 2003. PMID: 12939320

6

Biological safety assessment of docosahexaenoic acid supplementation in a randomized clinical trial for X-linked retinitis pigmentosa.

Wheaton DH, Hoffman DR, Locke KG, Watkins RB, Birch DG. Wheaton DH, et al. Among authors: birch dg. Arch Ophthalmol. 2003 Sep;121(9):1269-78. doi: 10.1001/archopht.121.9.1269. Arch Ophthalmol. 2003. PMID: 12963609 Clinical Trial.

7

A randomized, placebo-controlled clinical trial of docosahexaenoic acid supplementation for X-linked retinitis pigmentosa.

Hoffman DR, Locke KG, Wheaton DH, Fish GE, Spencer R, Birch DG. Hoffman DR, et al. Among authors: birch dg. Am J Ophthalmol. 2004 Apr;137(4):704-18. doi: 10.1016/j.ajo.2003.10.045. Am J Ophthalmol. 2004. PMID: 15059710 Clinical Trial.

8

Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP.

Daiger SP, Sullivan LS, Bowne SJ, Kennan A, Humphries P, Birch DG, Heckenlively JR; RP1 Consortium. Daiger SP, et al. Among authors: birch dg. Adv Exp Med Biol. 2003;533:1-11. doi: 10.1007/978-1-4615-0067-4_1. Adv Exp Med Biol. 2003. PMID: 15180241 Free PMC article. Review. No abstract available.

9

Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene.

Kozma P, Hughbanks-Wheaton DK, Locke KG, Fish GE, Gire AI, Spellicy CJ, Sullivan LS, Bowne SJ, Daiger SP, Birch DG. Kozma P, et al. Among authors: birch dg. Am J Ophthalmol. 2005 Nov;140(5):858-867. doi: 10.1016/j.ajo.2005.05.027. Epub 2005 Oct 7. Am J Ophthalmol. 2005. PMID: 16214101 Free PMC article.

10

Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis.

Bowne SJ, Sullivan LS, Mortimer SE, Hedstrom L, Zhu J, Spellicy CJ, Gire AI, Hughbanks-Wheaton D, Birch DG, Lewis RA, Heckenlively JR, Daiger SP. Bowne SJ, et al. Among authors: birch dg. Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42. doi: 10.1167/iovs.05-0868. Invest Ophthalmol Vis Sci. 2006. PMID: 16384941 Free PMC article.

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