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Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology|December 12, 2018
Patient-Reported Outcomes Over 5 Years After Whole- or Partial-Breast Radiotherapy: Longitudinal Analysis of the IMPORT LOW (CRUK/06/003) Phase III Randomized Controlled TrialIndrani S Bhattacharya, Joanne S Haviland, Anna M Kirby, et al.Eye (London, England)|June 27, 2015
Diverse clinical phenotypes associated with a nonsense mutation in FAM161AA M Rose, P Sergouniotis, G Alfano, et al.The British Journal of Ophthalmology|August 1, 1992
Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutationA T Moore, F W Fitzke, C M Kemp, et al.Human Mutation|November 5, 2011
RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlationIsabelle Audo, Saddek Mohand-Saïd, Claire-Marie Dhaenens, et al.Biochimica Et Biophysica Acta|October 8, 2004
Purification, characterisation and intracellular localisation of aryl hydrocarbon interacting protein-like 1 (AIPL1) and effects of mutations associated with inherited retinal dystrophiesVictoria A Gallon, Susan E Wilkie, Evelyne C Deery, et al.Nature Genetics|February 1, 1994
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortionK Evans, A Fryer, C Inglehearn, et al.Journal of Medical Genetics|November 1, 1994
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 lociM A Aldred, P W Teague, M Jay, et al.Human Molecular Genetics|November 22, 2002
Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31Evelyne C Deery, Eranga N Vithana, Richard J Newbold, et al.Investigative Ophthalmology & Visual Science|September 26, 2003
Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance?Eranga N Vithana, Leen Abu-Safieh, Lucia Pelosini, et al.Investigative Ophthalmology & Visual Science|April 27, 2011
Copy-number variations in EYS: a significant event in the appearance of arRPJuan I Pieras, Isabel Barragán, Salud Borrego, et al.Pageof 144