Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Gail Maconachie"'
Publikováno v:
British and Irish Orthoptic Journal, Vol 16, Iss 1 (2020)
Aim: To investigate if the EyeChart app gives accurate visual acuity (VA) measurements that are comparable to those achieved using traditional VA charts. Method: Twenty-four participants (aged 18–27 years, mean 20.13 ± 1.78 years) with VA of 6/60
Externí odkaz:
https://doaj.org/article/000edaa812f2403183e49bc35985b651
Publikováno v:
British and Irish Orthoptic Journal, Vol 7, Pp 49-53 (2010)
Aim: To investigate the effect of Fresnel prisms on dynamic visual acuity (DVA). Methods: Sixteen participants with normal visual acuity aged between 18 and 22 years were tested monocularly with four strengths of base-out Fresnel prisms (0Δ, 5 Δ, 1
Externí odkaz:
https://doaj.org/article/4e1649bc34494c7e844e32a68633e567
Autor:
Cheol-Hee Kim, Yu-Ri Lee, Mervyn Thomas, Arkaprava Roychaudhury, Cindy Skinner, Gail Maconachie, Moira Crosier, Holli Horak, Cris Constantinescu, Tae-Ik Choi, Jae-Jun Kyung, Tao Wang, Bonsu Ku, Bernard Chodirker, Michael Hammer, Irene Gottlob, William Norton, Albert Chudley, Charles Schwartz
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. X-linked ID (XLID) disorders, caused by defects in genes on the X chromosome, affect 1.7 out of 1,000
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4f138ec91670f4339dddad2a2245db59
https://doi.org/10.21203/rs.3.rs-2683050/v1
https://doi.org/10.21203/rs.3.rs-2683050/v1
Autor:
Helena Lee, Ravi Purohit, Viral Sheth, Gail Maconachie, Zhanhan Tu, Mervyn G. Thomas, Anastasia Pilat, Rebecca J. McLean, Frank A. Proudlock, Irene Gottlob
Meeting Presentation: Presented at the 2016 Association for Research in Vision and Ophthalmology meeting and at the 2015 British Isles Paediatric, Ophthalmology and Strabismus Association meeting. Purpose: To investigate the time course of foveal dev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168dee3168a2a0a0affa90db78d43e28
https://eprints.soton.ac.uk/469898/
https://eprints.soton.ac.uk/469898/
Publikováno v:
Survey of Ophthalmology. 66:362-377
Albinism is a group of rare inherited disorders arising from impairment of melanin biosynthesis. The reduction of melanin synthesis leads to hypopigmentation of the skin and eyes. A wide range of ophthalmic manifestations arise from albinism, includi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8626df5e9f582fabd4f4116397ae5b04
https://doi.org/10.1016/j.survophthal.2020.10.007
https://doi.org/10.1016/j.survophthal.2020.10.007
Autor:
Jinu Han, Seung-Tae Lee, Rebecca J. McLean, Nicolas Sylvius, Hyun Taek Lim, Usman Mahmood, Sung Eun Park, Viral Sheth, Helen J Kuht, Gail Maconachie, Mervyn G Thomas, Michael Hisaund, Basu Dawar, Irene Gottlob, Frank A Proudlock
Publikováno v:
Human Molecular Genetics
Foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis is an autosomal recessive disorder arising from SLC38A8 mutations. SLC38A8 is a putative glutamine transporter with strong expression within the photoreceptor layer in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ff4877f4444bc42219067585d969e51
https://doi.org/10.1093/hmg/ddaa166
https://doi.org/10.1093/hmg/ddaa166
Publikováno v:
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. 41(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::652572a790a368fd391f76b4d0da5d3f
https://pubmed.ncbi.nlm.nih.gov/34415280
https://pubmed.ncbi.nlm.nih.gov/34415280
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus
Autor:
Elfride De Baere, Gail Maconachie, Abdussalam Azem, Peter Bauer, Yuval Cohen, Martin Schulze, Birgit Lorenz, Bernd Wissinger, Rajech Sharkia, Basamat Almoallem, Irene Gottlob, Muhammad Mahajnah, Anja K. Mayer, Susanne Kohl, Elias I. Traboulsi, Adib Habib, Mervyn G Thomas
Publikováno v:
Brain. 142:1528-1534
Herein we present a consanguineous family with three children affected by foveal hypoplasia with infantile nystagmus, following an autosomal recessive mode of inheritance. The patients showed normal electroretinography responses, no signs of albinism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f33da5a8400e6e0ec889f72e95b9e16a
https://doi.org/10.1093/brain/awz098
https://doi.org/10.1093/brain/awz098
Publikováno v:
Eur J Hum Genet
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b715741513d36876e00db6521eefd5a9
https://europepmc.org/articles/PMC8484540/
https://europepmc.org/articles/PMC8484540/
Autor:
Viral Sheth, Rebecca J. McLean, Brenda J. Barry, Bashir Al-Diri, Gail Maconachie, Elizabeth C. Engle, Michael Hisaund, Mervyn G Thomas, Helen J Kuht, Wai-Man Chan, Irene Gottlob, Zhanhan Tu, Frank A Proudlock
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 2575, p 2575 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 5
International Journal of Molecular Sciences
Volume 22
Issue 5
Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from het
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac4789f6abb6949734e5f7bc11546615
https://pubmed.ncbi.nlm.nih.gov/33806565
https://pubmed.ncbi.nlm.nih.gov/33806565