Följ
Eva Lenassi
Eva Lenassi
University of Manchester, Manchester, UK; Eye Clinic, University Medical Centre, Ljubljana, Slovenia
Verifierad e-postadress på ucl.ac.uk
Titel
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Viewing ageing eyes: diverse sites of amyloid beta accumulation in the ageing mouse retina and the up-regulation of macrophages
E Lenassi, JH Kam, G Jeffery
PloS one 5 (10), e13127, 2010
1602010
A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants
E Lenassi, A Vincent, Z Li, Z Saihan, AJ Coffey, HB Steele-Stallard, ...
European Journal of Human Genetics 23 (10), 1318-1327, 2015
1122015
Retinal structure, function, and molecular pathologic features in gyrate atrophy
E Lenassi, PI Sergouniotis, AE Davidson, SR Devery, AT Moore, ...
Ophthalmology, 2011
108*2011
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
PI Sergouniotis, C Chakarova, C Murphy, M Becker, E Lenassi, G Arno, ...
The American Journal of Human Genetics 94 (5), 760-769, 2014
872014
Complement component C3 plays a critical role in protecting the aging retina in a murine model of age-related macular degeneration
JH Kam, E Lenassi, TH Malik, MC Pickering, G Jeffery
The American journal of pathology 183 (2), 480-492, 2013
832013
VEP maturation and visual acuity in infants and preschool children
E Lenassi, K Likar, B Stirn-Kranjc, J Brecelj
Documenta Ophthalmologica 117, 111-120, 2008
652008
Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger …
HB Steele-Stallard, P Le Quesne Stabej, E Lenassi, LM Luxon, ...
Orphanet journal of rare diseases 8, 1-11, 2013
612013
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders
E Lenassi, J Clayton-Smith, S Douzgou, SC Ramsden, S Ingram, G Hall, ...
Genetics in Medicine 22 (4), 745-751, 2020
492020
Correlation between macular morphology and sensitivity in patients with retinitis pigmentosa and hyperautofluorescent ring
E Lenassi, E Troeger, R Wilke, M Hawlina
Investigative Ophthalmology & Visual Science 53 (1), 47-52, 2012
462012
Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina
PI Sergouniotis, AE Davidson, DS Mackay, E Lenassi, Z Li, AG Robson, ...
The American Journal of Human Genetics, 2011
452011
The effect of the common c. 2299delG mutation in USH2A on RNA splicing
E Lenassi, Z Saihan, M Bitner-Glindzicz, AR Webster
Experimental eye research 122, 9-12, 2014
422014
An improved phenotype-driven tool for rare mendelian variant prioritization: benchmarking exomiser on real patient whole-exome data
V Cipriani, N Pontikos, G Arno, PI Sergouniotis, E Lenassi, P Thawong, ...
Genes 11 (4), 460, 2020
412020
Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4-to 8-year follow-up
AG Robson, E Lenassi, Z Saihan, VA Luong, FW Fitzke, GE Holder, ...
Investigative ophthalmology & visual science 53 (10), 6187-6195, 2012
392012
Efficacy of 12‐month treatment of neovascular age‐related macular degeneration with intravitreal bevacizumab based on individually determined injection strategies after three …
PJ Mekjavic, A Kraut, M Urbancic, E Lenassi, M Hawlina
Acta ophthalmologica 89 (7), 647-653, 2011
392011
Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation
E Lenassi, Z Saihan, V Cipriani, PLQ Stabej, AT Moore, LM Luxon, ...
Ophthalmology 121 (2), 580-587, 2014
292014
Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease
E Lenassi, M Jarc-Vidmar, D Glavač, M Hawlina
British journal of ophthalmology 93 (12), 1600-1605, 2009
282009
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
OA Jiman, RL Taylor, E Lenassi, JC Smith, S Douzgou, JM Ellingford, ...
European Journal of Human Genetics 28 (5), 576-586, 2020
252020
The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice
E Lenassi, AG Robson, M Hawlina, GE Holder
Retina 32 (3), 588, 2012
242012
Effect of acute hypercapnia during 10-day hypoxic bed rest on posterior eye structures
P Jaki Mekjavic, E Lenassi, O Eiken, IB Mekjavic
Journal of applied physiology 120 (10), 1241-1248, 2016
172016
Laser clearance of drusen deposit in patients with autosomal dominant drusen (p.Arg345Trp in EFEMP1)
E Lenassi, E Troeger, R Wilke, A Tufail, M Hawlina, G Jeffery, AR Webster
American journal of ophthalmology 155 (1), 190-198, 2013
172013
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Artiklar 1–20