Inherited Retinal Disease PUBLICATIONS |
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| Links to Medline | On-line Journals | |||||
| Title | Journal | Ref | Date | Authors | |
| 2003 | |||||
| TIMP-3 mRNA is not overexpressed in Sorsby fundus dystrophy | Am J Ophthalmol | 136(5): 954-5 | 2003, Nov | Chong NH, Kvanta A, Seregard S, Bird AC, Luthert PJ, Steen B. | |
| The expression of the Leber congenital amaurosis protein AIPL1 coincides with rod and cone photoreceptor development | Invest Ophthalmol Vis Sci | 44(12): 5396-403 | 2003, Dec | Van der Spuy J, Kim JH, Yu YS, Szel A, Luthert PJ, Clark BJ, Cheetham ME. | |
| Long-term evaluation of retinal function in Prph2Rd2/Rd2 mice following AAV-mediated gene replacement therapy. | J Gene Med | 5(9):757-64 | 2003, Sep |
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| Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration | Hum Mol Genet | 15; 12(20): 2657-67 | 2003, Oct | Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF. | |
| Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? | Invest Ophthalmol Vis Sci | 44(10): 4204-9 | 2003, Oct | Vithana EN, Abu-Safieh L, Pelosini L, Winchester E, Hornan D, Bird AC, Hunt DM, Bustin SA, Bhattacharya SS. | |
| Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity [Abstract] | Invest Ophthalmol Vis Sci | 44(8):3544-50 | 2003, Aug | Robson AG, El-Amir A, Bailey C, Egan CA, Fitzke FW, Webster AR, Bird AC, Holder GE | |
| Genetic linkage analysis of a novel syndrome comprising North Carolina-like macular dystrophy and progressive sensorineural hearing loss [Abstract] | Br J Ophthalmol | 87(7):893-8 | 2003, Jul | Francis PJ, Johnson S, Edmunds B, Kelsell RE, Sheridan E, Garrett C, Holder GE, Hunt DM, Moore AT | |
| Inherited retinal dystrophy and asymmetric axial length | Br J Opthalmol | 87(4):503-504 | 2003, Apr | Francis P, Robson AG, Holder G, Moore A, Francis P, Moore A, Kaushal S. | |
| Expression of opsin genes early in ocular development of humans and mice [Abstract] | Exp Eye Res | 76(3):393-6 | 2003, Mar | Tarttelin EE, Bellingham J, Bibb LC, Foster RG, Hankins MW, Gregory-Evans K, Gregory-Evans CY, Wells DJ, Lucas RJ. | |
| Mutations in the CACNA1F and NYX genes in British CSNBX families [Abstract] | Hum Mutat | 21(2):169 | 2003, Feb | Zito I, Allen LE, Patel RJ, Meindl A, Bradshaw K, Yates JR, Bird AC, Erskine L, Cheetham ME, Webster AR, Poopalasundaram S, Moore AT, Trump D, Hardcastle AJ. | |
| Pattern ERG: clinical overview, and some observations on associated fundus autofluorescence imaging in inherited maculopathy. | Doc Ophthalmol | 106(1):17-23 | 2003, Jan | Holder GE, Robson AG, Hogg CR, Kurz-Levin M, Lois N, Bird AC. | |
| Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy [Abstract] | Br J Ophthalmol | 87(1):48-53 | 2003, Jan | Votruba M, Thiselton D, Bhattacharya SS. | |
| 2002 | |||||
| Title | Journal | Ref | Date | Authors | |
| Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). [Abstract] | J Med Genet | 39(9):656-660 | 2002, Sep | Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER. | |
| First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1 [Abstract] | Invest Ophthalmol Vis Sci | 43(8):2540-5 | 2002, Aug | Vieira H, Gregory-Evans K, Lim N, Brookes JL, Brueton LA, Gregory-Evans CY. | |
| Characterisation of two genes for guanylate cyclase activator protein (GCAP1 and GCAP2) in the Japanese pufferfish, Fugu rubripes [Abstract] | Biochim Biophys Acta | 1577(1):73-80 | 2002, Aug | Wilkie SE, Stinton I, Cottrill P, Deery E, Newbold R, Warren MJ, Bhattacharya SS, Hunt DM. | |
| Visual outcomes in the subfoveal radiotherapy study: a randomized controlled trial of teletherapy for age-related macular degeneration.[Abstract] | Arch Ophthalmol | 120(8):1029-38 | 2002, Aug | Hart PM, Chakravarthy U, Mackenzie G, Chisholm IH, Bird AC, Stevenson MR, Owens SL, Hall V, Houston RF, McCulloch DW, Plowman N. | |
| Retinal pigment epithelium translocation after choroidal neovascular membrane removal in age-related macular degeneration [Abstract] | Ophthalmology | 109(8):1492-8 | 2002, Aug | Stanga PE, Kychenthal A, Fitzke FW, Halfyard AS, Chan R, Bird AC, Aylward GW. | |
| A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy [Abstract] | Invest Ophthalmol Vis Sci | 43(6):1715-24 | 2002, Jun | Thiselton DL, Alexander C, Taanman JW, Brooks S, Rosenberg T, Eiberg H, Andreasson S, Van Regemorter N, Munier FL, Moore AT, Bhattacharya SS, Votruba M. | |
| Alterations of Slow and Fast Rod ERG Signals in Patients with Molecularly Confirmed Stargardt Disease Type 1 [Abstract] | Invest Ophthalmol Vis Sci | 43(4):1248-1256 | 2002, Apr | Scholl HP, Besch D, Vonthein R, Weber BH, Apfelstedt-Sylla E. | |
| In Vitro Characterization of a Spontaneously Immortalized Human Muller Cell Line (MIO-M1). [Abstract] | Invest Ophthalmol Vis Sci | 43(3):864-9 | 2002, Mar | Limb GA, Salt TE, Munro PM, Moss SE, Khaw PT. | |
| Kinetics of transgene expression in mouse retina following sub-retinal injection of recombinant adeno-associated virus. [Abstract] | Vision Res | 42(4):541-9 | 2002, Feb | Sarra GM, Stephens C, Schlichtenbrede FC, Bainbridge JW, Thrasher AJ, Luthert PJ, Ali RR. | |
| Symptomatic abnormalities of dark adaptation in patients with EFEMP1 retinal dystrophy (Malattia Leventinese/Doyne honeycomb retinal dystrophy). [Abstract] | Eye | 16(1):7-15 | 2002, Jan | Haimovici R, Wroblewski J, Piguet B, Fitzke FW, Holder GE, Arden GB, Bird AC. | |
| Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa [Abstract] | Hum Mol Genet | 11(1):87-92 | 2002, Jan | Chakarova CF, Hims MM, Bolz H, Abu-Safieh L, Patel RJ, Papaioannou MG, Inglehearn CF, Keen TJ, Willis C, Moore AT, Rosenberg T, Webster AR, Bird AC, Gal A, Hunt D, Vithana EN, Bhattacharya SS. | |
| 2001 | |||||
| Title | Journal | Ref | Date | Authors | |
| Autosomal dominant cone-rod dystrophy with mutations in the guanylate cyclase 2D gene encoding retinal guanylate cyclase-1. [Abstract] | Arch Ophthalmol | 119(11):1667-73 | 2001, Nov | Downes SM, Payne AM, Kelsell RE, Fitzke FW, Holder GE, Hunt DM, Moore AT, Bird AC. | |
| Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies | J Med Genet | 38(9):611-4 | 2001, Sept | Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM | |
| A human homolog of yeast pre-mrna splicing gene, prp31, underlies autosomal dominant retinitis pigmentosa on chromasome 19q13.4 (rp11) | Mol Gen | 8(2):375-81 | 2001, Aug | Vithana EN, Abu-Safieh L, Allen MJ, Carey A, Papaioannou M, Chakarova C, Al-Maghtheh M, Ebenezer ND, Willis C, Moore AT, Bird AC, Hunt DM, Bhattacharya | |
| Mutations in the pre-mRNA spicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13) | Hum Mol Genet | 10(15):1555-62 | 2001, Jul | McKie AB, McHale JC, Keen TJ, Tarttelin EE, Goliath R, van LithVerhoeven JJ, Greenberg J, Ramesar RS, Hoyng CB, Cremers FP, Mackey DA, Bhattacharya SS, Bird Ac, Markham AF, Inglehearn CF | |
| Molecular genetic heterogenity in autosomal dominant drusen | J Med Genet | 38(6):381-4 | 2001, Jun | Tattelin EE, Gregory-evans CY, Bird AC, Weleber RG, Klein ML, Blackburn J, Gregory-Evans K. | |
| Spectrum of mutations in USU2A in British patients with Usher syndrome type II | Exp Eye Res | 72(5):503-9 | 2001, May | Leroy BP, Aragon-Martin JA, Weston MD, Bessant DA, Willis C, Webster Ar, Bird AC, Kimberling WJ, Payne AM, Bhattacharya SS | |
| Influence of laser photocoagulation on choroidal capillary cytoarchitecture Abstract Available | Br J Ophthalmol | 85:40-46 | 2001, Jan | Robyn H Guymer, Gregory S Hageman, Alan C Bird | |
| Autosomal Dominant Cone and Cone-Rod Dystrophy With Mutations in the Guanylate Cyclase Activator 1A Gene-Encoding Guanylate Cyclase Activating Protein-1. | Arch Ophthalmol | 119(1):96-105 | 2001, Jan | Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC | |
| Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. | Retina | 21(1):78-80. | 2001 | Stanga PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE. | |
| 2000 | |||||
| RP1 protein truncating mutations predominate at the RP1 adRP locus | Invest Ophthalmol Vis Sci | 41(13):4069-73 | 2000, Dec | Payne A, Vithana E, Khaliq S, Hameed A, Deller J, Abu-Safieh L, Kermani S, Leroy BP, Mehdi SQ, Moore AT, Bird AC, Bhattacharya SS | |
| Ultrastructural changes associated with accumulation of inclusion bodies in rat retinal pigment epithelium Abstract Available | Invest Ophthalmol Vis Sci | 41(13):4305-12 | 2000, Dec | Okubo A, Sameshima M, Unoki K, Uehara F, Bird AC | |
| The effects of TGF beta 1 2 and 3 on Tenons capsule fibroblast proliferation migration and contraction. |
Invest Ophthalmol Vis Sci |
41:756-763 |
2000 |
Cordeiro MF Khaw PT |
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| Phenotypic differences in extracellular matrix reorganisational ability and MMP-2 activity between oral mucosal and skin fibroblasts in vitro are associated with the differential expression and production of TIMP-2 |
J Dental Research |
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2000 |
Stephens P Davies K J Occleston N L Pleass R Kon C Daniels J Khaw P T Thomas D W |
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| PCR-based evidence of bacterial involvement in eyes with suspected intraocular infection. | Invest Ophthalmol Vis Sci | 41(11):3474-9 | 2000, Oct | Okhravi N, Adamson P, Carroll N, Dunlop A, Matheson MM, Towler HM, Lightman S | |
| NRL S50T mutation and the importance of 'founder effects' in inherited retinal dystrophies | Eur J Hum Genet | 8(10):783-7 | 2000, Oct | Bessant DA, Payne AM, Plant C, Bird AC, Swaroop A, Bhattacharya SS | |
| Novel mutations of the RPGR gene in RP3 families |
Hum Mut |
15:386 |
2000 |
Zito I, Gorin M, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. |
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| Familial cavernous hemangioma: An expanding ocular spectrum | Arch Ophthalmol | 118(7):969-73 | 2000, Jul | Sarraf D, Payne AM, Kitchen ND, Sehmi KS, Downes SM, Bird AC | |
| Importance of autosomal recessive retinitis pigmentosa locus on 1q31 q32.1(RP12) and mutation analysis of the candidate gene | J Med Genet | 37(5):384-7 | 2000, May | Bressant Da, Payne AM, Snow BE, Antino G, Mehdi SQ, Bird AC, Siderovski DP, Bhattacharya SS | |
| An analysis of ABCR mutations in British patients with recessive retinal dystrophies |
Invest Ophthalmol Vis Sci |
41:16-9. |
2000 |
Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, Bhattacharya S. |
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| RETGC-1 mutation autosomal dominant cone-rod retinal dystrophy (CORD6). |
Ophthalmology |
107:55-61. |
2000 |
Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT |
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| Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. |
Ophthalmology |
107(1):55-61. |
2000 Jan |
Gregory-Evans K, Kelsell RE, Gregory-Evans CY, Downes SM, Fitzke FW, Holder GE, Simunovic M, Mollon JD, Taylor R, Hunt DM, Bird AC, Moore AT. |
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| 1999 | |||||
| Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa |
Hum Mol Genet |
8:2121-8. |
1999 |
Bowne SJ, Daiger SP, Hims MM, Sohocki MM, Malone KA, McKie AB, Heckenlively JR, Birch DG, Inglehearn F, Bhattacharya SS, Bird A, Sullivan LS |
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| Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter. |
Doc Ophthalmol |
95(3-4):217-28. |
1999 |
Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT. |
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| The relationships between age hanges in retinal pigment epithelium and Bruch's membrane. |
Invest Ophthalmol Vis Sci |
40:443-9. |
1999 |
Okubo A, Rosa RH, Bunce KV, Alexander RA, Fan JT, Bird AC, Luthert PJ. |
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| Repeated injections of a CNTF analogue lead to long-term photoreceptor survival in hereditary retinal degeneration. |
Ophthalmol Vis Sci |
40:1298-305. |
1999 |
Chong NHV, Alexander RA, Waters L, Barnett KC, Bird AC, Luthert PJ. |
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| A clinical and molecular genetic analysis of olitary ocular angioma. |
Ophthalmology |
106:623-9. |
1999 |
Webster AR, Maher ER, Bird AC, Gregor ZG, Scott JD, Moore AT. |
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| Mutations in the RP2 gene cause disease in 10% of families with familial x-linked retinitis pigmentosa assessed in his study |
Am J Hum Genet |
64:1210-5 |
1999 |
Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S |
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| A Mutation in the bZIP transcription factor NRL is associated with autosomal dominant retinitis igmentosa in a family linked to a novel locus on 14p |
Nat Genet |
21:355-6 |
1999 |
Bessant DAR, Payne AM, Mitton KP, Wang Q-L, Swain PK, Plant C, Bird AC, Zack DZ, Swaroop A, Bhattacharya SS |
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| Refined genetic and physical positioning of the gene for Doyne honeycomb retinal dystrophy |
Hum Genet |
104:77-82. |
1999 |
Kermani S, Gregory-Evans K, Tarttelin EE, Bellingham J, Plant C, Bird AC, Fox M, Bhattacharya SS, Gregory-vans CY |
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| Intrafamilial variation of phenotype in Stargardt macular dystrophy - Fundus flavimaculatus |
Invest Ophthalmol Vis Sci |
40:2668-75. |
1999 |
Lois N, Holder GE, Bunce C, Fitzke FW, Bird AC |
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| Genetic analysis of the guanylate cyclase activator 1B(GUCA1B) gene in patients with autosomal dominant retinal dystrophies |
J Med Genet |
36:691-3. |
1999 |
Payne AM, Downes SM, Bessant DA, Plant C, Moore AT, Bird AC, Bhattacharya SS |
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| Evidence for control of tumour necrosis factor alpha (TNF-alpha) activity by TNF receptors in patients with proliferative diabetic retinopathy |
Clin Exp Immunol |
115:409-14 |
1999 |
G.A. Limb, H. Soomro, S. Janikoun, R.D. Hollifield, J. Shilling |
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| Identification of six novel RPGR (retinitis pigmentosa GTPase regulator) mutations in a subset of X-linked retinitis pigmentosa families segregating with RP3 locus. |
Hum Genet. |
105:57-62. |
1999 |
Zito I, Thisleton DL, Gorin MB, Stout JT, Plant C, Bird AC, Bhattacharya SS, Hardcastle AJ. |
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| Retinitis pigmentosa in genetic diseases of the eye. Ed. E.I. Traboulsi |
OUP |
pp 325-346 |
1999 |
Bird.AC |
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| Electrophysiological findings in dominant optic atrophy (DOA) linking to the OPA1 locus on chromosome 3q 28-qter |
Doc Ophthalmol |
95(3-4):217-28 |
1999 |
Holder GE, Votruba M, Carter AC, Bhattacharya SS, Fitzke FW, Moore AT |
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| In vivo autofluorescence in macular dystrophies. in Retina, Current Practice and Future Trends. Ed. T Das; Hyderbad, India |
Paras Publishing |
pp1-8 |
1999 |
Bird AC |
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| The difference between RP2 and RP3 in X-linked retinitis pigmentosa |
Br J Ophthalmol |
83:1144-8. |
1999 |
Flaxel CJ, Jay M, Thisleton DL, Nayadu M, Hardcastle AJ, Wright A, Bird AC |
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| Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavismaculatus |
Invest Ophthalmol Vis Sci |
40(11):2668-75 |
1999 |
Lois N, Holder G, Fitzke FW, Plant C, Bird AC |
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