Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Aine Rice"'
Autor:
Alison J. Hardcastle, Petra Liskova, Yelena Bykhovskaya, Bennet J. McComish, Alice E. Davidson, Chris F. Inglehearn, Xiaohui Li, Hélène Choquet, Mahmoud Habeeb, Sionne E. M. Lucas, Srujana Sahebjada, Nikolas Pontikos, Karla E. Rojas Lopez, Anthony P. Khawaja, Manir Ali, Lubica Dudakova, Pavlina Skalicka, Bart T. H. Van Dooren, Annette J. M. Geerards, Christoph W. Haudum, Valeria Lo Faro, Abi Tenen, Mark J. Simcoe, Karina Patasova, Darioush Yarrand, Jie Yin, Salina Siddiqui, Aine Rice, Layal Abi Farraj, Yii-Der Ida Chen, Jugnoo S. Rahi, Ronald M. Krauss, Elisabeth Theusch, Jac C. Charlesworth, Loretta Szczotka-Flynn, Carmel Toomes, Magda A. Meester-Smoor, Andrea J. Richardson, Paul A. Mitchell, Kent D. Taylor, Ronald B. Melles, Anthony J. Aldave, Richard A. Mills, Ke Cao, Elsie Chan, Mark D. Daniell, Jie Jin Wang, Jerome I. Rotter, Alex W. Hewitt, Stuart MacGregor, Caroline C. W. Klaver, Wishal D. Ramdas, Jamie E. Craig, Sudha K. Iyengar, David O’Brart, Eric Jorgenson, Paul N. Baird, Yaron S. Rabinowitz, Kathryn P. Burdon, Chris J. Hammond, Stephen J. Tuft, Pirro G. Hysi
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-13 (2021)
Alison Hardcastle et al. report a genome-wide meta-analysis of keratoconus, a condition affecting the cornea that causes blurred vision and often leads to blindness. They identify 36 genomic regions associated with keratoconus, 31 of which are novel,
Externí odkaz:
https://doaj.org/article/6eed77457b784436985e138a87c60544
Autor:
Daniel F. Schorderet, David J. Armstrong, Veronique Vitart, Chris F. Inglehearn, Graeme C.M. Black, Aine Rice, Louise F. Porter, Francis L. Munier, Forbes D C Manson, Alan F. Wright, David Simpson, Judith Lechner, Colin E. Willoughby
Publikováno v:
Human Molecular Genetics, vol. 23, no. 20, pp. 5527-35
Keratoconus, a common inherited ocular disorder resulting in progressive corneal thinning, is the leading indication for corneal transplantation in the developed world. Genome-wide association studies have identified common SNPs 100 kb upstream of ZN
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c98c509963fdf9ab71db4105b287a1c
https://doi.org/10.1093/hmg/ddu253
https://doi.org/10.1093/hmg/ddu253
Publikováno v:
Cornea. 30:865-871
PURPOSE To report the results of descemet stripping endothelial keratoplasty (DSEK) for a single-surgeon, consecutive case series. METHOD All patients undergoing DSEK at our institution from 2006 to 2007 under the care of a single consultant ophthalm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a1663715068d3e05c3603ef389e488
https://doi.org/10.1097/ico.0b013e3182107a18
https://doi.org/10.1097/ico.0b013e3182107a18
Autor:
Ciara McGoldrick, Aine Rice-McCaldin, Alan W. Stitt, Daniel K. Hsu, Fu-Tong Liu, Tom A. Gardiner, J. V. Glenn, David R. McCance, Suzanne R. Thorpe
Publikováno v:
Diabetes. 54:785-794
Suppression of angiogenesis during diabetes is a recognized phenomenon but is less appreciated within the context of diabetic retinopathy. The current study has investigated regulation of retinal angiogenesis by diabetic serum and determined if advan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::634760daafa5694df9d2d647d0d899f8
https://doi.org/10.2337/diabetes.54.3.785
https://doi.org/10.2337/diabetes.54.3.785
Autor:
Manir Ali, Oscar F. Chacon-Camacho, David M. Spokes, Carmel Toomes, Chris F. Inglehearn, Nigel James, Juan Carlos Zenteno, Aine Rice, S G Naylor, David Rivera-De la Parra, Salina Siddiqui
Publikováno v:
Cornea
Supplemental Digital Content is Available in the Text.
Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting o
Purpose: Homozygous mutations in SLC4A11 cause 2 rare recessive conditions: congenital hereditary endothelial dystrophy (CHED), affecting the cornea alone, and Harboyan syndrome consisting o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d775fd2691dae748a952e0abdb4daa
https://pubmed.ncbi.nlm.nih.gov/24351571
https://pubmed.ncbi.nlm.nih.gov/24351571
Autor:
Layal Abi Farraj, D. J. Coster, Ha Ae Bae, Judith Lechner, Paul Mitchell, Manir Ali, Maurice Yap, Gowthaman Govindarajan, Emmanuelle Souzeau, David Simpson, Richard A. Mills, Manoranjan Das, Colin E. Willoughby, Jasenka Guduric-Fuchs, Tony Phillips, Kathryn P. Burdon, Shea Ping Yip, Jamie E Craig, Salina Siddiqui, Richard G Lindsay, Periasamy Sundaresan, Chris F. Inglehearn, Aine Rice
Publikováno v:
Lechner, J, Bae, H A, Guduric-Fuchs, J, Rice, A, Govindarajan, G, Siddiqui, S, Abi Farraj, L, Yip, S P, Yap, M, Das, M, Souzeau, E, Coster, D, Mills, R A, Lindsay, R, Phillips, T, Mitchell, P, Ali, M, Inglehearn, C F, Sundaresan, P, Craig, J E, Simpson, D A, Burdon, K P & Willoughby, C E 2013, ' Mutational Analysis of MIR184 in Sporadic Keratoconus and Myopia ', Investigative Opthalmology and Visual Science, vol. 54, no. 8, pp. 5266-72 . https://doi.org/10.1167/iovs.13-12035
Author version made available in accordance with the publisher's policy.
A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar ca
A mutation miR-184(+57C>T) in the seed region of miR-184 (encoded by MIR184 [MIM*613146]) results in familial severe keratoconus combined with early-onset anterior polar ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::975c0ffe5c30491475864d291c9569b5
https://pubmed.ncbi.nlm.nih.gov/23833072
https://pubmed.ncbi.nlm.nih.gov/23833072
Genetic heterogeneity for recessively inherited congenital cataract microcornea with corneal opacity
Autor:
Chris F. Inglehearn, Martin McKibbin, Manir Ali, Eamonn Sheridan, Ahmed Al-Maskari, Carmel Toomes, Tehseen Sahi, Aine Rice, Clara V. Logan, Yasmin Raashid, James A. Poulter, Alex F. Markham, Salina Siddiqui, Colin A. Johnson, David A. Parry, Adam Booth, Moin Mohamed, Kamron N. Khan, Ian M. Carr, Hussain Jafri, Anwar Hashmi
Publikováno v:
Investigative ophthalmologyvisual science. 52(7)
To investigate whether three consanguineous families from the Punjab province of Pakistan, with affected members with recessively inherited congenital cataract microcornea with corneal opacity, are genetically homogeneous.An ophthalmic examination wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053c7f222c72a929cb47481f36ad2e42
https://pubmed.ncbi.nlm.nih.gov/21474777
https://pubmed.ncbi.nlm.nih.gov/21474777
Autor:
Manir, Ali, Beatriz, Buentello-Volante, Martin, McKibbin, J Alberto, Rocha-Medina, Narcis, Fernandez-Fuentes, Wilson, Koga-Nakamura, Aruna, Ashiq, Kamron, Khan, Adam P, Booth, Grange, Williams, Yasmin, Raashid, Hussain, Jafri, Aine, Rice, Chris F, Inglehearn, Juan Carlos, Zenteno
Publikováno v:
Molecular Vision
Purpose To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::43166741441b62e994ac0644befb7b9e
https://pubmed.ncbi.nlm.nih.gov/20664696
https://pubmed.ncbi.nlm.nih.gov/20664696
Publikováno v:
Eye (London, England). 23(12)
Mid-term outcomes of penetrating keratoplasty (PK) and deep anterior lamellar keratoplasty (DALK)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f439db79108d316e82d9be531b8d2b4e
https://pubmed.ncbi.nlm.nih.gov/19197317
https://pubmed.ncbi.nlm.nih.gov/19197317
Autor:
Minna Männikkö, Marja Majava, Tim D. Spector, Pasi Hägg, Paul G. Scott, Leena Ala-Kokko, Aine Rice, Chris F. Inglehearn, Christopher J Hammond, Paul N. Bishop
Publikováno v:
Human mutation. 28(4)
The importance of the genetic component in high myopia has been well established in population and family studies, but only a few candidate genes have been explored to date. The extracellular matrix small leucine-rich repeat proteins/proteoglycans (S
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a17e81bb817e0b0fb4c200e009c7e3
https://pubmed.ncbi.nlm.nih.gov/17117407
https://pubmed.ncbi.nlm.nih.gov/17117407