Search Results - "Self, James E."

An OTX2 Gene Mutation Causing a More Severe Retinal Phenotype in a Female RPGR Mutation Carrier by Bhat, Leena, De Salvo, Gabriella, Akyol, Engin, Self, James E, Meduri, Alessandro

“…This study describes the clinical features of a pedigree with a novel retinitis pigmentosa GTPase regulator gene mutation in whom one hemizygous man has a…”
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The UK clinical eye research strategy: refreshing research priorities for clinical eye research in the UK by Bourne, Rupert R. A., Moledina, Malik, Azuara-Blanco, Augusto, Saleh, George M., Self, James E., Sivaprasad, Sobha, Sharma, Srilakshmi M., Ross, Andrew, Gilbert, Rose M., Abdalla Elsayed, Maram E. A., Moon, Won Young, Doug, Manjo, Mulholland, Pádraig J., Day, Alexander C., Romano, Vito, Hoad, Geraldine V., Kara, Madina, Murray, Ailish, Gow, Louise, Ghanchi, Faruque, Patel, Praveen J., Gale, Richard P., Dinah, Christiana, Valentine, Keith, Yelf, Cathy, Poustie, Vanessa

“…Objectives To validate and update the 2013 James Lind Alliance (JLA) Sight Loss and Vision Priority Setting Partnership (PSP)’s research priorities for…”
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Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature by Salter, Claire G., Baralle, Diana, Collinson, Morag N., Self, James E.

“…A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion syndromes, yet the character, prevalence, and extent of these…”
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Novel Presenting Phenotype in a Child With Autosomal Dominant Best's Vitelliform Macular Dystrophy by Abdalla, Yasmine F, De Salvo, Gabriella, Elsahn, Ahmad, Self, James E

“…Best's macular dystrophy (BMD) usually manifests with visual failure in the first or second decade of life; however, there is a large variability in…”
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Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus by Self, James E, Shawkat, Fatima, Malpas, Crispin T, Thomas, N Simon, Harris, Christopher M, Hodgkins, Peter R, Chen, Xiaoli, Trump, Dorothy, Lotery, Andrew J

“…To perform a genotype-phenotype correlation study in an X-linked congenital idiopathic nystagmus pedigree (pedigree 1) and to assess the allelic variance of…”
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