En Face Optical Coherence Tomography Imaging in Enhanced S-Cone Syndrome.
作者： Manon Ortoli , Olivia Zambrowski , Alexandra Miere , Sylvie Gerber , Josseline Kaplan
DOI: 10.1097/IAE.0000000000002857
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sci-hub.st 参考文章(7)
Neena B Haider, Samuel G Jacobson, Artur V Cideciyan, Ruth Swiderski, Luan M Streb, Charles Searby, Gretel Beck, Robin Hockey, David B Hanna, Susan Gorman, David Duhl, Rivka Carmi, Jean Bennett, Richard G Weleber, Gerald A Fishman, Alan F Wright, Edwin M Stone, Val C Sheffield, None, Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate Nature Genetics. ,vol. 24, pp. 127- 131 ,(2000) , 10.1038/72777
Isabelle Audo, Michel Michaelides, Anthony G. Robson, Marko Hawlina, Veronika Vaclavik, Jennifer M. Sandbach, Magella M. Neveu, Chris R. Hogg, David M. Hunt, Anthony T. Moore, Alan C. Bird, Andrew R. Webster, Graham E. Holder, Phenotypic Variation in Enhanced S-cone Syndrome Investigative Ophthalmology & Visual Science. ,vol. 49, pp. 2082- 2093 ,(2008) , 10.1167/IOVS.05-1629
Daphne L. McCulloch, Michael F. Marmor, Mitchell G. Brigell, Ruth Hamilton, Graham E. Holder, Radouil Tzekov, Michael Bach, ISCEV Standard for full-field clinical electroretinography (2015 update) Documenta Ophthalmologica. ,vol. 130, pp. 1- 12 ,(2015) , 10.1007/S10633-014-9473-7
N-K Wang, H F Fine, S Chang, C L Chou, W Cella, J Tosi, C-S Lin, T Nagasaki, S H Tsang, Cellular origin of fundus autofluorescence in patients and mice with a defective NR2E3 gene. British Journal of Ophthalmology. ,vol. 93, pp. 1234- 1240 ,(2009) , 10.1136/BJO.2008.153577
Sarah Hull, Gavin Arno, Panagiotis I. Sergouniotis, Peter Tiffin, Arundhati Dev Borman, Aman Chandra, Anthony G. Robson, Graham E. Holder, Andrew R. Webster, Anthony T. Moore, Clinical and Molecular Characterization of Enhanced S-Cone Syndrome in Children JAMA Ophthalmology. ,vol. 132, pp. 1341- 1349 ,(2014) , 10.1001/JAMAOPHTHALMOL.2014.2343
Angelo Maria Minnella, Valeria Pagliei, Maria Cristina Savastano, Matteo Federici, Matteo Bertelli, Paolo Enrico Maltese, Giorgio Placidi, Giovanni Corbo, Benedetto Falsini, Aldo Caporossi, Swept source optical coherence tomography and optical coherence tomography angiography in pediatric enhanced S-cone syndrome: a case report. Journal of Medical Case Reports. ,vol. 12, pp. 1- 8 ,(2018) , 10.1186/S13256-018-1819-4
Stephen H. Tsang, Tarun Sharma, Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome). Advances in Experimental Medicine and Biology. ,vol. 1085, pp. 153- 156 ,(2018) , 10.1007/978-3-319-95046-4_28