Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
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Published in The Lancet (British edition) (29.03.2014)
Published in The Lancet (British edition) (29.03.2014)
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An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis
Jun, Albert S., Meng, Huan, Ramanan, Naren, Matthaei, Mario, Chakravarti, Shukti, Bonshek, Richard, Black, Graeme C.M., Grebe, Rhonda, Kimos, Martha
Published in Human molecular genetics (15.01.2012)
Published in Human molecular genetics (15.01.2012)
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Phenome-wide Mendelian randomisation analysis identifies causal factors for age-related macular degeneration
Julian, Thomas H, Cooper-Knock, Johnathan, MacGregor, Stuart, Guo, Hui, Aslam, Tariq, Sanderson, Eleanor, Black, Graeme C M, Sergouniotis, Panagiotis I
Published in eLife (27.01.2023)
Published in eLife (27.01.2023)
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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma
Conte, Ivan, Kristen D. Hadfield, Sara Barbato, Sabrina Carrella, Mariateresa Pizzo, Rajeshwari S. Bhat, Annamaria Carissimo, Marianthi Karali, Louise F. Porter, Jill Urquhart, Sofie Hateley, James OâSullivan, Forbes D. C. Manson, Stephan C. F. Neuhauss, Sandro Banfi, Graeme C. M. Black
Published in Proceedings of the National Academy of Sciences - PNAS (23.06.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (23.06.2015)
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A tidally distorted dwarf galaxy near NGC 4449
Rich, R. M., Collins, M. L. M., Black, C. M., Longstaff, F. A., Koch, A., Benson, A., Reitzel, D. B.
Published in Nature (London) (09.02.2012)
Published in Nature (London) (09.02.2012)
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Prevalence and outcome in systemic sclerosis associated pulmonary arterial hypertension: application of a registry approach
Mukerjee, D, St George, D, Coleiro, B, Knight, C, Denton, C P, Davar, J, Black, C M, Coghlan, J G
Published in Annals of the rheumatic diseases (01.11.2003)
Published in Annals of the rheumatic diseases (01.11.2003)
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Scleroderma renal crisis: patient characteristics and long-term outcomes
Penn, H., Howie, A.J., Kingdon, E.J., Bunn, C.C., Stratton, R.J., Black, C.M., Burns, A., Denton, C.P.
Published in QJM : An International Journal of Medicine (01.08.2007)
Published in QJM : An International Journal of Medicine (01.08.2007)
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Exome Sequence Identifies RIPK4 as the Bartsocas- Papas Syndrome Locus
Mitchell, Karen, O'Sullivan, James, Missero, Caterina, Blair, Ed, Richardson, Rose, Anderson, Beverley, Antonini, Dario, Murray, Jeffrey C., Shanske, Alan L., Schutte, Brian C., Romano, Rose-Anne, Sinha, Satrajit, Bhaskar, Sanjeev S., Black, Graeme C.M., Dixon, Jill, Dixon, Michael J.
Published in American journal of human genetics (13.01.2012)
Published in American journal of human genetics (13.01.2012)
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An open-label pilot study of infliximab therapy in diffuse cutaneous systemic sclerosis
Denton, C P, Engelhart, M, Tvede, N, Wilson, H, Khan, K, Shiwen, X, Carreira, P E, Gonzalez, F Diaz, Black, C M, van den Hoogen, F H
Published in Annals of the rheumatic diseases (01.09.2009)
Published in Annals of the rheumatic diseases (01.09.2009)
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Mutations in LRP2 , which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
Noonan, Kristin M, MacLaughlin, David T, Loscertales, Maria, Robson, Caroline, Walsh, Christopher A, Al-Gazali, Lihadh, Hill, R Sean, Donnai, Dian, Russell, Meaghan K, Bieth, Eric, Devriendt, Koen, Liu, Tianming, Chassaing, Nicolas, Teebi, Ahmad, Pober, Barbara R, Black, Graeme C M, Lacombe, Didier, Donahoe, Patricia K, Kantarci, Sibel
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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Mycophenolate mofetil in diffuse cutaneous systemic sclerosis-a retrospective analysis
Nihtyanova, S. I., Brough, G. M., Black, C. M., Denton, C. P.
Published in Rheumatology (Oxford, England) (01.03.2007)
Published in Rheumatology (Oxford, England) (01.03.2007)
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
Cehajic-Kapetanovic, Jasmina, Xue, Kanmin, Martinez-Fernandez de la Camara, Cristina, Nanda, Anika, Davies, Alexandra, Wood, Laura J., Salvetti, Anna Paola, Fischer, M. Dominik, Aylward, James W., Barnard, Alun R., Jolly, Jasleen K., Luo, Edmond, Lujan, Brandon J., Ong, Tuyen, Girach, Aniz, Black, Graeme C. M., Gregori, Ninel Z., Davis, Janet L., Rosa, Potyra R., Lotery, Andrew J., Lam, Byron L., Stanga, Paulo E., MacLaren, Robert E.
Published in Nature medicine (01.03.2020)
Published in Nature medicine (01.03.2020)
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Clinical burden of digital vasculopathy in limited and diffuse cutaneous systemic sclerosis
Nihtyanova, S I, Brough, G M, Black, C M, Denton, C P
Published in Annals of the rheumatic diseases (01.01.2008)
Published in Annals of the rheumatic diseases (01.01.2008)
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Systemic sclerosis associated pulmonary hypertension: improved survival in the current era
Williams, M H, Das, C, Handler, C E, Akram, M R, Davar, J, Denton, C P, Smith, C J, Black, C M, Coghlan, J G
Published in Heart (British Cardiac Society) (01.07.2006)
Published in Heart (British Cardiac Society) (01.07.2006)
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Improved survival in systemic sclerosis is associated with better ascertainment of internal organ disease: a retrospective cohort study
Nihtyanova, S.I., Tang, E.C., Coghlan, J.G., Wells, A.U., Black, C.M., Denton, C.P.
Published in QJM : An International Journal of Medicine (01.02.2010)
Published in QJM : An International Journal of Medicine (01.02.2010)
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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
Boland, Elena, Clayton-Smith, Jill, Woo, Victoria G., McKee, Shane, Manson, Forbes D.C., Medne, Livija, Zackai, Elaine, Swanson, Eric A., Fitzpatrick, David, Millen, Kathleen J., Sherr, Elliott H., Dobyns, William B., Black, Graeme C.M.
Published in American journal of human genetics (01.08.2007)
Published in American journal of human genetics (01.08.2007)
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Echocardiography and pulmonary function as screening tests for pulmonary arterial hypertension in systemic sclerosis
Mukerjee, D., St. George, D., Knight, C., Davar, J., Wells, A. U., Du Bois, R. M., Black, C. M., Coghlan, J. G.
Published in Rheumatology (Oxford, England) (01.04.2004)
Published in Rheumatology (Oxford, England) (01.04.2004)
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Bosentan treatment for pulmonary arterial hypertension related to connective tissue disease: a subgroup analysis of the pivotal clinical trials and their open-label extensions
Denton, C P, Humbert, M, Rubin, L, Black, C M
Published in Annals of the rheumatic diseases (01.10.2006)
Published in Annals of the rheumatic diseases (01.10.2006)
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