PubMed

Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST).

Klein M, Birch DG.

Doc Ophthalmol. 2009 Nov 3. [Epub ahead of print]PMID: 19885692 [PubMed - as supplied by publisher]Related articles

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.

Am J Hum Genet. 2009 Jun;84(6):792-800.PMID: 19520207 [PubMed - indexed for MEDLINE]Related articles

Thickness of receptor and post-receptor retinal layers in patients with retinitis pigmentosa measured with frequency-domain optical coherence tomography.

Hood DC, Lin CE, Lazow MA, Locke KG, Zhang X, Birch DG.

Invest Ophthalmol Vis Sci. 2009 May;50(5):2328-36. Epub 2008 Nov 14.PMID: 19011017 [PubMed - indexed for MEDLINE]Related articles

A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy.

Jiang L, Wheaton D, Bereta G, Zhang K, Palczewski K, Birch DG, Baehr W.

Vision Res. 2008 Oct;48(23-24):2425-32. Epub 2008 Sep 16.PMID: 18706439 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K.

J Clin Invest. 2008 Aug;118(8):2908-16.PMID: 18654668 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Mol Vis. 2008 May 19;14:922-7.PMID: 18509552 [PubMed - indexed for MEDLINE]Related articlesFree article

Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration.

Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadalà M, Birch DG, Wissinger B, Zrenner E, Kohl S.

Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. Epub 2008 May 16.PMID: 18487367 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Adv Exp Med Biol. 2008;613:203-9. No abstract available. PMID: 18188946 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Mol Vis. 2007 Oct 17;13:1970-5.PMID: 17982421 [PubMed - indexed for MEDLINE]Related articlesFree article

Age-related macular degeneration: a target for nanotechnology derived medicines.

Birch DG, Liang FQ.

Int J Nanomedicine. 2007;2(1):65-77. Review.PMID: 17722514 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.

McMahon A, Butovich IA, Mata NL, Klein M, Ritter R 3rd, Richardson J, Birch DG, Edwards AO, Kedzierski W.

Mol Vis. 2007 Feb 26;13:258-72.PMID: 17356513 [PubMed - indexed for MEDLINE]Related articlesFree article

Photoreceptor retinol dehydrogenases. An attempt to characterize the function of Rdh11.

Kasus-Jacobi A, Birch DG, Anderson RE.

Adv Exp Med Biol. 2006;572:505-11. No abstract available. PMID: 17249616 [PubMed - indexed for MEDLINE]Related articles

Persistent cone dysfunction in acute exudative polymorphous vitelliform maculopathy.

Kozma P, Locke KG, Wang YZ, Birch DG, Edwards AO.

Retina. 2007 Jan;27(1):109-13. No abstract available. PMID: 17218925 [PubMed - indexed for MEDLINE]Related articles

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.

Invest Ophthalmol Vis Sci. 2006 Oct;47(10):4579-88.PMID: 17003455 [PubMed - indexed for MEDLINE]Related articlesFree article

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS, Bowne SJ, Birch DG, Hughbanks-Wheaton D, Heckenlively JR, Lewis RA, Garcia CA, Ruiz RS, Blanton SH, Northrup H, Gire AI, Seaman R, Duzkale H, Spellicy CJ, Zhu J, Shankar SP, Daiger SP.

Invest Ophthalmol Vis Sci. 2006 Jul;47(7):3052-64.PMID: 16799052 [PubMed - indexed for MEDLINE]Related articlesFree article

The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles.

McGee J, Goodyear RJ, McMillan DR, Stauffer EA, Holt JR, Locke KG, Birch DG, Legan PK, White PC, Walsh EJ, Richardson GP.

J Neurosci. 2006 Jun 14;26(24):6543-53.PMID: 16775142 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Invest Ophthalmol Vis Sci. 2006 Jan;47(1):34-42.PMID: 16384941 [PubMed - indexed for MEDLINE]Related articlesFree article

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

Birch DG.

Retina. 2005 Dec;25(8 Suppl):S52-S54. Review. No abstract available. PMID: 16374336 [PubMed - indexed for MEDLINE]Related articles

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.

Am J Ophthalmol. 2005 Nov;140(5):858-867. Epub 2005 Oct 7.PMID: 16214101 [PubMed - indexed for MEDLINE]Related articlesFree article

The Iroquois homeobox gene, Irx5, is required for retinal cone bipolar cell development.

Cheng CW, Chow RL, Lebel M, Sakuma R, Cheung HO, Thanabalasingham V, Zhang X, Bruneau BG, Birch DG, Hui CC, McInnes RR, Cheng SH.

Dev Biol. 2005 Nov 1;287(1):48-60. Epub 2005 Sep 22.PMID: 16182275 [PubMed - indexed for MEDLINE]Related articles

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.

Retina. 2005 Sep;25(6):772-7. Review. No abstract available. PMID: 16141867 [PubMed - indexed for MEDLINE]Related articles

Visual maturation of term infants fed long-chain polyunsaturated fatty acid-supplemented or control formula for 12 mo.

Birch EE, Castañeda YS, Wheaton DH, Birch DG, Uauy RD, Hoffman DR.

Am J Clin Nutr. 2005 Apr;81(4):871-9.PMID: 15817866 [PubMed - indexed for MEDLINE]Related articlesFree article

Functional characterization of mouse RDH11 as a retinol dehydrogenase involved in dark adaptation in vivo.

Kasus-Jacobi A, Ou J, Birch DG, Locke KG, Shelton JM, Richardson JA, Murphy AJ, Valenzuela DM, Yancopoulos GD, Edwards AO.

J Biol Chem. 2005 May 27;280(21):20413-20. Epub 2005 Mar 24.PMID: 15790565 [PubMed - indexed for MEDLINE]Related articlesFree article

Lipofuscin accumulation, abnormal electrophysiology, and photoreceptor degeneration in mutant ELOVL4 transgenic mice: a model for macular degeneration.

Karan G, Lillo C, Yang Z, Cameron DJ, Locke KG, Zhao Y, Thirumalaichary S, Li C, Birch DG, Vollmer-Snarr HR, Williams DS, Zhang K.

Proc Natl Acad Sci U S A. 2005 Mar 15;102(11):4164-9. Epub 2005 Mar 4.PMID: 15749821 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal disease in mice lacking hypoxia-inducible transcription factor-2alpha.

Ding K, Scortegagna M, Seaman R, Birch DG, Garcia JA.

Invest Ophthalmol Vis Sci. 2005 Mar;46(3):1010-6.PMID: 15728559 [PubMed - indexed for MEDLINE]Related articlesFree article

Surrogate electroretinographic markers for assessing therapeutic efficacy in the retina.

Birch DG.

Expert Rev Mol Diagn. 2004 Sep;4(5):693-703. Review.PMID: 15347262 [PubMed - indexed for MEDLINE]Related articles

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH.

Arch Ophthalmol. 2004 Jul;122(7):1029-37.PMID: 15249368 [PubMed - indexed for MEDLINE]Related articlesFree article

Dark adaptation of rod photoreceptors in normal subjects, and in patients with Stargardt disease and an ABCA4 mutation.

Kang Derwent JJ, Derlacki DJ, Hetling JR, Fishman GA, Birch DG, Grover S, Stone EM, Pepperberg DR.

Invest Ophthalmol Vis Sci. 2004 Jul;45(7):2447-56.PMID: 15223829 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Adv Exp Med Biol. 2003;533:1-11. Review. No abstract available. PMID: 15180241 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Am J Ophthalmol. 2004 Apr;137(4):704-18.PMID: 15059710 [PubMed - indexed for MEDLINE]Related articles

Control of late off-center cone bipolar cell differentiation and visual signaling by the homeobox gene Vsx1.

Chow RL, Volgyi B, Szilard RK, Ng D, McKerlie C, Bloomfield SA, Birch DG, McInnes RR.

Proc Natl Acad Sci U S A. 2004 Feb 10;101(6):1754-9. Epub 2004 Jan 26.PMID: 14745032 [PubMed - indexed for MEDLINE]Related articlesFree article

Interocular amplitude differences of the full field electroretinogram in normal subjects.

Rotenstreich Y, Fishman GA, Anderson RJ, Birch DG.

Br J Ophthalmol. 2003 Oct;87(10):1268-71.PMID: 14507764 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Arch Ophthalmol. 2003 Sep;121(9):1269-78.PMID: 12963609 [PubMed - indexed for MEDLINE]Related articles

Cone and rod ERG phototransduction parameters in retinitis pigmentosa.

Tzekov RT, Locke KG, Hood DC, Birch DG.

Invest Ophthalmol Vis Sci. 2003 Sep;44(9):3993-4000.PMID: 12939320 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

J Pediatr. 2003 Jun;142(6):669-77.PMID: 12838196 [PubMed - indexed for MEDLINE]Related articles

Variability of full-field electroretinogram responses in subjects without diffuse photoreceptor cell disease.

Grover S, Fishman GA, Birch DG, Locke KG, Rosner B.

Ophthalmology. 2003 Jun;110(6):1159-63.PMID: 12799241 [PubMed - indexed for MEDLINE]Related articles

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.

Mol Vis. 2003 Apr 24;9:129-37.PMID: 12724644 [PubMed - indexed for MEDLINE]Related articlesFree article

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.

Invest Ophthalmol Vis Sci. 2003 Mar;44(3):1268-74.PMID: 12601058 [PubMed - indexed for MEDLINE]Related articlesFree article

Quantitative electroretinogram measures of phototransduction in cone and rod photoreceptors: normal aging, progression with disease, and test-retest variability.

Birch DG, Hood DC, Locke KG, Hoffman DR, Tzekov RT.

Arch Ophthalmol. 2002 Aug;120(8):1045-51.PMID: 12149058 [PubMed - indexed for MEDLINE]Related articles

A double-blind placebo-controlled evaluation of the acute effects of sildenafil citrate (Viagra) on visual function in subjects with early-stage age-related macular degeneration.

Birch DG, Toler SM, Swanson WH, Fish GE, Laties AM.

Am J Ophthalmol. 2002 May;133(5):665-72.PMID: 11992864 [PubMed - indexed for MEDLINE]Related articles

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.

Hum Mol Genet. 2002 Mar 1;11(5):559-68.PMID: 11875050 [PubMed - indexed for MEDLINE]Related articlesFree article

A randomized controlled trial of long-chain polyunsaturated fatty acid supplementation of formula in term infants after weaning at 6 wk of age.

Birch EE, Hoffman DR, Castañeda YS, Fawcett SL, Birch DG, Uauy RD.

Am J Clin Nutr. 2002 Mar;75(3):570-80.PMID: 11864865 [PubMed - indexed for MEDLINE]Related articlesFree article

Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4(ABCR) gene.

Birch DG, Peters AY, Locke KL, Spencer R, Megarity CF, Travis GH.

Exp Eye Res. 2001 Dec;73(6):877-86.PMID: 11846518 [PubMed - indexed for MEDLINE]Related articles

Essential fatty acids in visual and brain development.

Uauy R, Hoffman DR, Peirano P, Birch DG, Birch EE.

Lipids. 2001 Sep;36(9):885-95. Review.PMID: 11724460 [PubMed - indexed for MEDLINE]Related articles

Impaired synthesis of DHA in patients with X-linked retinitis pigmentosa.

Hoffman DR, DeMar JC, Heird WC, Birch DG, Anderson RE.

J Lipid Res. 2001 Sep;42(9):1395-401.PMID: 11518758 [PubMed - indexed for MEDLINE]Related articlesFree article

Pupil size following dark adaptation in patients with retinitis pigmentosa.

Berezovsky A, Salomão SR, Birch DG.

Braz J Med Biol Res. 2001 Aug;34(8):1037-40.PMID: 11471043 [PubMed - indexed for MEDLINE]Related articlesFree article

Delayed dark-adaptation and lipofuscin accumulation in abcr+/- mice: implications for involvement of ABCR in age-related macular degeneration.

Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH.

Invest Ophthalmol Vis Sci. 2001 Jul;42(8):1685-90.PMID: 11431429 [PubMed - indexed for MEDLINE]Related articlesFree article

Autosomal dominant retinal degeneration and bone loss in patients with a 12-bp deletion in the CRX gene.

Tzekov RT, Liu Y, Sohocki MM, Zack DJ, Daiger SP, Heckenlively JR, Birch DG.

Invest Ophthalmol Vis Sci. 2001 May;42(6):1319-27.PMID: 11328746 [PubMed - indexed for MEDLINE]Related articlesFree article

A randomized controlled trial of early dietary supply of long-chain polyunsaturated fatty acids and mental development in term infants.

Birch EE, Garfield S, Hoffman DR, Uauy R, Birch DG.

Dev Med Child Neurol. 2000 Mar;42(3):174-81.PMID: 10755457 [PubMed - indexed for MEDLINE]Related articles

Impact of early dietary intake and blood lipid composition of long-chain polyunsaturated fatty acids on later visual development.

Hoffman DR, Birch EE, Birch DG, Uauy R, Castañeda YS, Lapus MG, Wheaton DH.

J Pediatr Gastroenterol Nutr. 2000 Nov;31(5):540-53.PMID: 11144440 [PubMed - indexed for MEDLINE]Related articles