Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Isabelle Russell-Eggitt"'
Autor:
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals r
Externí odkaz:
https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736f
Autor:
Dipesh E Patel, Phillippa M Cumberland, Bronwen C Walters, Isabelle Russell-Eggitt, Jugnoo S Rahi, OPTIC study group
Publikováno v:
PLoS ONE, Vol 10, Iss 6, p e0130895 (2015)
PURPOSE:To investigate feasibility, reliability and repeatability of perimetry in children. METHODS:A prospective, observational study recruiting 154 children aged 5-15 years, without an ophthalmic condition that affects the visual field (controls),
Externí odkaz:
https://doaj.org/article/14889c74533d490691abac677c75dc4b
Autor:
Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Publikováno v:
PLoS ONE, Vol 9, Iss 8, p e104163 (2014)
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to establish ultrasonography as a reliable clinical diagnostic tool to distinguish between MGC1 and primary congenital glauc
Externí odkaz:
https://doaj.org/article/15c887a1f0b749fc8219f95900909adc
Autor:
Mei Hong Tan, Donna S Mackay, Jill Cowing, Hoai Viet Tran, Alexander J Smith, Genevieve A Wright, Arundhati Dev-Borman, Robert H Henderson, Phillip Moradi, Isabelle Russell-Eggitt, Robert E MacLaren, Anthony G Robson, Michael E Cheetham, Dorothy A Thompson, Andrew R Webster, Michel Michaelides, Robin R Ali, Anthony T Moore
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32330 (2012)
Leber Congenital Amaurosis (LCA) and Early Childhood Onset Severe Retinal Dystrophy are clinically and genetically heterogeneous retinal disorders characterised by visual impairment and nystagmus from birth or early infancy. We investigated the preva
Externí odkaz:
https://doaj.org/article/ab358eecd7e74aa495b458512900acef
Publikováno v:
Eye. 30:1204-1209
PurposeTo describe the frequency, characteristics, and treatment outcome of persistent fetal vasculature (PFV) in children undergoing surgery for congenital and infantile cataract in the first 2 years of life.Patients and methodsObservational populat
Autor:
Dipesh E, Patel, Ananth C, Viswanathan, David, Garway-Heath, Phillippa M, Cumberland, Bronwen C, Walters, Isabelle, Russell-Eggitt, Mario, Cortina-Borja, Jugnoo S, Rahi, David, Crabb
Publikováno v:
British Journal of Ophthalmology. 101:94-96
Introduction Interpretation of perimetric findings, particularly in children, relies on accurate assessment of test reliability, yet no objective measures of reliability exist for kinetic perimetry. We developed the kinetic perimetry reliability meas
Autor:
Phillippa M. Cumberland, Dipesh E Patel, Mario Cortina-Borja, Isabelle Russell-Eggitt, Jugnoo S Rahi, Bronwen C Walters
Publikováno v:
Ophthalmology. 122:1711-1717
Purpose We sought to define normative visual field (VF) values for children using common clinical test protocols for kinetic and static perimetry. Design Prospective, observational study. Subjects We recruited 154 children aged 5 to 15 years without
Publikováno v:
British Journal of Ophthalmology. 99:1471-1476
Background/aims To investigate outcomes following cataract surgery with and without primary intraocular lens (IoL) implantation in children under 2 years of age with congenital or infantile cataract. Method Prospective population based cohort study u
Autor:
Michele Cruwys, Ewa Raglan, Angela F. Brady, Peter Loshe, Kaukab Rajput, Amanda J. Kilsby, Isabelle Russell-Eggitt, Chelvi Kukendrajah
Publikováno v:
Clinical Dysmorphology. 22:64-67
Autor:
Dorothy A. Thompson, Ruth Lyons, Stephanie Grunewald, Isabelle Russell-Eggitt, Alki Liasis, Herbert Jägle
Publikováno v:
Journal of Inherited Metabolic Disease. 36:1039-1047
The congenital disorder of glycosylation, PMM2-CDG, is associated with progressive photoreceptor degeneration, which causes a pigmentary retinopathy. We identified a sibling pair, mildly affected with PMM2-CDG, who showed preserved photoreceptor func