Zobrazeno 1 - 10
of 871
pro vyhledávání: '"Bird AC"'
Publikováno v:
Gorin, MB; Zito, I; Plant, C; Bird, AC; Bhattacharya, SS; & Hardcastle, AJ. (2017). Novel Mutations of the RPGR Gene in RP3 Families. Human Mutation. UCLA: Retrieved from: http://www.escholarship.org/uc/item/7966027h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::069ed678d29d3b951d36f9c4be8b6ff5
https://escholarship.org/uc/item/7966027h
https://escholarship.org/uc/item/7966027h
Autor:
Holz, FG, Sadda, SR, Staurenghi, G, Lindner, M, Bird, AC, Blodi, BA, Bottoni, F, Chakravarthy, U, Chew, EY, Csaky, K, Curcio, CA, Danis, R, Fleckenstein, M, Freund, KB, Grunwald, J, Guymer, R, Hoyng, CB, Jaffe, GJ, Liakopoulos, S, Monés, JM, Oishi, A, Pauleikhoff, D, Rosenfeld, PJ, Sarraf, D, Spaide, RF, Tadayoni, R, Tufail, A, Wolf, S, Schmitz-Valckenberg, S, CAM group
PURPOSE: To summarize the results of 2 consensus meetings (Classification of Atrophy Meeting [CAM]) on conventional and advanced imaging modalities used to detect and quantify atrophy due to late-stage non-neovascular and neovascular age-related macu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3a2bb8ab03aa376302b8616e222f3b86
https://doi.org/10.1016/j.ophtha.2016.12.002
https://doi.org/10.1016/j.ophtha.2016.12.002
Autor:
Gregory-Evans, K., Kelsell, Re, Gregory-Evans, Cy, Downes, Sm, Fitzke, Fw, Holder, Ge, Simunovic, M., John Mollon, Taylor, R., Hunt, Dm, Bird, Ac, Moore, At
Publikováno v:
ResearcherID
OBJECTIVE: To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D. DESIGN: A prospective, cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::4b87243316ad1d5f2b99022a106e2197
https://doi.org/10.1016/s0161-6420(99)00038-x
https://doi.org/10.1016/s0161-6420(99)00038-x
Autor:
Thompson, RB, Reffatto, V, Bundy, JG, Kortvely, E, Flinn, JM, Lanzirotti, A, Jones, EA, McPhail, DS, Fearn, S, Boldt, K, Ueffing, M, Ratu, SGS, Pauleikhoff, L, Bird, AC, Lengyel, I
Publikováno v:
E3971
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::a1e642ecf3fb632556954c6dc9c8c06b
http://hdl.handle.net/10044/1/59185
http://hdl.handle.net/10044/1/59185
Publikováno v:
Der Ophthalmologe. 98:511-519
The present concepts of the pathogenesis of AMD include cumulative light damage by oxidative processes in the macular photoreceptors as environmental co-factor for the development of AMD. The direct causative connection of this hypothesis has still t
Publikováno v:
Journal of Clinical Endocrinology & Metabolism. 82:3763-3770
Melatonin rhythms were assessed in 49 registered blind individuals by measurement of the urinary metabolite of melatonin, 6-sulfatoxymelatonin (aMT6s). Subjects had different causes of visual loss and were classified as having light perception or bet
Autor:
Arnold J, Kilmartin D, Olson J, Neville S, Robinson K, Laird A, Richmond C, Farrow A, McKay S, McKechnie R, Evans G, Aaberg TM, Brower J, Waldron R, Loupe D, Gillman J, Myles B, Saperstein DA, Schachat AP, Bressler NM, Bressler SB, Nesbitt P, Porter T, Hawse P, Harnett M, Eager A, Belt J, Cain D, Emmert D, George T, Herring M, McDonald J, Mones J, Corcostegui B, Gilbert M, Duran N, Sisquella M, Nolla A, Margalef A, Miller JW, Gragoudas ES, Lane AM, Emmanuel N, Holbrook A, Evans C, Lord US, Walsh DK, Callahan CD, DuBois JL, Moy J, Kenney AG, Milde I, Platz ES, Lewis H, Kaiser PK, Holody LJ, Lesak E, Lichterman S, Siegel H, Fattori A, Ambrose G, Fecko T, Ross D, Burke S, Conway J, Singerman L, Zegarra H, Novak M, Bartel M, Tilocco DuBois K, Ilc M, Schura S, Joyce S, Tanner V, Rowe P, Smith Brewer S, Greanoff G, Daley G, DuBois J, Lehnhardt D, Kukula D, Fish GE, Jost BF, Anand R, Callanan D, Arceneaux S, Arnwine J, Ellenich P, King J, Aguado H, Rollins R, Anderson T, Nork C, Duignan K, Boleman B, Jurklies B, Pauleikhoff D, Hintzmann A, Fischer M, Sowa C, Behne E, Pournaras CJ, Donati G, Kapetanios AD, Cavaliere K, Guney Wagner S, Gerber N, Sickenberg M, Sickenberg V, Gans A, Hosner B, Sbressa A, Kozma C, Curchod M, Ardoni S, Harding S, Yang YC, Briggs M, Briggs S, Phil EB, Tompkin V, Jackson R, Pearson S, Natha S, Sharp J, Tompkin A, Lim JI, Flaxel C, Padilla M, Levin L, Walonker F, Cisneros L, Nichols T, Schmidt Erfurth U, Barbazetto I, Laqua H, Kupfer R, Bulow R, Glisovic B, Bredfeldt T, Elsner H, Wintzer V, Bahlmann D, Michels S, Gordes R, Neppert B, Grote M, Honnicke K, Blumenkranz MS, Little HL, Jack R, Espiritu LM, Unyi L, Regan J, Lamborn L, Silvestri C, Rosa RH, Rosenfeld PJ, Lewis ML, Rodriguez B, Torres A, Munoz N, Contreras T, Galvez M, Hess D, Cubillas T, Rams I, Slakter JS, Sorenson JA, Bruschi PA, Burke K, Schnipper E, Maranan L, Scolaro M, Riff M, Agresta E, Napoli J, Johansson I, Dedorsson I, Stenkula S, Hvarfner C, Carlsson T, Liljedahl AM, Fallstrom S, Jacobsson E, Hendeberg K, Soubrane G, Kuhn D, Oubraham H, Benelhani A, Kunsch A, Delhoste B, Ziverec G, Lasnier M, Debibie C, Lobes LA, Olsen K, Bahr BJ, Worstell NT, Wilcox LA, Wellman LA, Vagstad G, Steinberg D, Campbell A, Ma C, Dreyer R, Williamson B, Johnson M, Crider H, Anderson H, Brown T, Jelinek K, Graves D, Pope S, Boone R, Beaumont W, Margherio RR, Williams GA, Zajechowski M, Stanley C, Kulak M, Streasick P, Szdlowski L, Falk R, Shoichet S, Regan G, Manatrey P, Cumming K, Fadel R, Mitchel B, Vandell L, Yesestrepsky D, Medina T, Bridges C, Huston G, Koenig F, Benchaboune M, Mezmate K, Fontanay S, Meredith T, Binning J, Gualdoni J, Boyd L, Ort E, Barts B, Allen R, Dahl J, Holle T, Harvey PT, Kaus L, Leuschner D, Bolychuk S, Hewitt I, Voyce J, Menchini U, Virgili G, Lanzetta P, Ambesi M, Pirracchio A, Tedeschi M, Potter MJ, Sahota B, Hall L, Le G, Rai S, Johnson D, Stur M, Lukas J, Tittl M, Docker S, Vogl K, Pieramici DJ, Manos KS, Cooper R, Denbow RL, Lowery ER, Phillips DA, Thibeault SK, Tian Y, Alexander J, Orr PR, Black N, Escartin P, Hartley D, Haworth P, Hecker T, Hiscock D, Jamali F, Maradan N, North J, Norton B, Stapleton Hayes T, Taylor R, Huber G, Deslandes JY, Fsadni M, Hess I, de Pommerol H, Bobillier A, Reaves A, Banasik S, Birch R, Koester J, Stickles R, Truett K, McAlister L, Parker F, Strong HA, Azab M, Buskard N, Gray T, Manjuris U, Hao Y, Su XY, Mason M, Hynes L, Barbezetto I, Birngruber R, Flaxel CJ, Harvey P, Koester JM, Meredith TA, Murphy SA, Strong A, Ulrike M, Beck RW, Bird AC, Coscas G, Deutman A, Jampol L, Klein R, Maguire M, Rosenfeld P, Acreneaux S, Margherio RP, Staflin P, Mones JM, Schmidt Erfurth U., BANDELLO , FRANCESCO
PURPOSE: To determine if photodynamic therapy with verteporfin (Visudyne; Novartis AG, Bulach, Switzerland), termed verteporfin therapy, can safely reduce the risk of vision loss compared with a placebo (with sham treatment) in patients with subfovea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::a746d97964e6d04575b8f0598cd8066e
http://hdl.handle.net/11390/684501
http://hdl.handle.net/11390/684501
Autor:
Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J
Publikováno v:
European journal of human genetics 10 (2002): 197–203.
info:cnr-pdr/source/autori:Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J, et al./titolo:The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe./doi:/rivista:European journal of human genetics/anno:2002/pagina_da:197/pagina_a:203/intervallo_pagine:197–203/volume:10
info:cnr-pdr/source/autori:Maugeri A, Flothmann K, Hemmrich N, Ingvast S, Jorge P, Paloma E, Patel R, Rozet JM, Tammur J, Testa F, Balcells S, Bird AC, Brunner HG, Hoyng CB, Metspalu A, Simonelli F, Allikmets R, Bhattacharya SS, D'Urso M, Gonzalez-Duarte R, Kaplan J, et al./titolo:The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe./doi:/rivista:European journal of human genetics/anno:2002/pagina_da:197/pagina_a:203/intervallo_pagine:197–203/volume:10
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::7c0f6e0b9f9a81d1eca5fd5bd857f8f2
http://www.cnr.it/prodotto/i/26471
http://www.cnr.it/prodotto/i/26471
Autor:
Ciccodicola A, Vervoort R, Conte I, Zullo A, Lanzara C, D'Urso M, Lennon A, Tulloch B, Axton R, Meindl A, Bird AC, Meitinger T, Wright AF, Miano MG.
Publikováno v:
III Società Italiana di Genetica Umana SIGU, Orvieto, 29 Novembre-1 Dicembre, 2000
info:cnr-pdr/source/autori:Ciccodicola A, Vervoort R, Conte I, Zullo A, Lanzara C, D'Urso M, Lennon A, Tulloch B, Axton R, Meindl A, Bird AC, Meitinger T, Wright AF, Miano MG./congresso_nome:III Società Italiana di Genetica Umana SIGU/congresso_luogo:Orvieto/congresso_data:29 Novembre-1 Dicembre, 2000/anno:2000/pagina_da:/pagina_a:/intervallo_pagine
info:cnr-pdr/source/autori:Ciccodicola A, Vervoort R, Conte I, Zullo A, Lanzara C, D'Urso M, Lennon A, Tulloch B, Axton R, Meindl A, Bird AC, Meitinger T, Wright AF, Miano MG./congresso_nome:III Società Italiana di Genetica Umana SIGU/congresso_luogo:Orvieto/congresso_data:29 Novembre-1 Dicembre, 2000/anno:2000/pagina_da:/pagina_a:/intervallo_pagine
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::b6f89e738142348af9023799d2e773c8
https://publications.cnr.it/doc/246690
https://publications.cnr.it/doc/246690