Zobrazeno 1 - 10
of 502
pro vyhledávání: '"Michel, Michaelides"'
Autor:
Elaine J. Anderson, Tessa M. Dekker, Mahtab Farahbakhsh, Nashila Hirji, D. Samuel Schwarzkopf, Michel Michaelides, Geraint Rees
Publikováno v:
Brain Research Bulletin, Vol 215, Iss , Pp 111026- (2024)
Achromatopsia is an inherited retinal disease that affects 1 in 30,000–50,000 individuals and is characterised by an absence of functioning cone photoreceptors from birth. This results in severely reduced visual acuity, no colour vision, marked sen
Externí odkaz:
https://doaj.org/article/5ed1990c8659438a93e27434549aff58
Autor:
Michalis Georgiou, Shaima Awadh Hashem, Michel Michaelides, Joseph G. Chacko, Sami H. Uwaydat
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 34, Iss , Pp 102068- (2024)
Purpose: To present a case of molecularly confirmed oculocutaneous albinism (OCA) and retinitis pigmentosa (RP). Observations: A 46-year-old male with a lifelong established diagnosis of OCA and baseline best corrected visual acuity (BCVA) of 20/200,
Externí odkaz:
https://doaj.org/article/9c51b7b2f6d6418da6f4d61602eb7779
Autor:
Hali Sai, Bethany Ollington, Farah O. Rezek, Niuzheng Chai, Amelia Lane, Anastasios Georgiadis, James Bainbridge, Michel Michaelides, Almudena Sacristan-Reviriego, Pedro R.L. Perdigão, Amy Leung, Jacqueline van der Spuy
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 35, Iss 1, Pp 102148- (2024)
Biallelic variations in the aryl hydrocarbon receptor interacting protein-like 1 (AIPL1) gene cause Leber congenital amaurosis subtype 4 (LCA4), an autosomal recessive early-onset severe retinal dystrophy that leads to the rapid degeneration of retin
Externí odkaz:
https://doaj.org/article/b9beb1ebaa5940b7aa0820f78cbd3d1d
Publikováno v:
Frontiers in Ophthalmology, Vol 4 (2024)
Non-confocal split-detection imaging reveals the cone photoreceptor inner segment mosaic in a plethora of retinal conditions, with the potential of providing insight to ageing, disease, and response to treatment processes, in vivo, and allows the scr
Externí odkaz:
https://doaj.org/article/fb2025e8f2c24f65bc1c06621d74134d
Autor:
Samantha R. De Silva, DPhil, FRCOphth, Hwei Wuen Chan, MD, FRCOphth, Aditi Agarwal, MRCOphth, FICO, Andrew R. Webster, MD, FRCOphth, Michel Michaelides, MD, FRCOphth, Omar A. Mahroo, PhD, FRCOphth
Publikováno v:
Ophthalmology Science, Vol 4, Iss 2, Pp 100375- (2024)
Externí odkaz:
https://doaj.org/article/985f29a9e3374030ad26c01157158efa
Autor:
Shwetha Chandrasekhar, Siying Lin, Neringa Jurkute, Kathryn Oprych, Leire Estramiana Elorrieta, Elena Schiff, Samantha Malka, Genevieve Wright, Michel Michaelides, Omar A. Mahroo, Andrew R. Webster, Gavin Arno
Publikováno v:
Cells, Vol 13, Iss 15, p 1261 (2024)
Biallelic variants in USH2A are associated with retinitis pigmentosa (RP) and Type 2 Usher Syndrome (USH2), leading to impaired vision and, additionally, hearing loss in the latter. Although the introduction of next-generation sequencing into clinica
Externí odkaz:
https://doaj.org/article/9f8300908b4346948f247decb549375c
Autor:
Patricio G. Schlottmann, José D. Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P. Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E. Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M. Martin, Gerardo Juan Ormaechea, M. Eugenia Inga, Aníbal A. Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J. Nuova, Ivana B. Canonero, Omar A. Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Varela
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract This study corresponds to the first large-scale genetic analysis of inherited eye diseases (IED) in Argentina and describes the comprehensive genetic profile of a large cohort of patients. Medical records of 22 ophthalmology and genetics ser
Externí odkaz:
https://doaj.org/article/a4196dab4d534e369ef825091e1bfe14
Autor:
Andrea Vergaro, Monika Pankievic, Jana Jedlickova, Lubica Dudakova, Marie Vajter, Michel Michaelides, Martin Meliska, Pavel Nemec, Daniela Babincova, Bohdan Kousal, Petra Liskova
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 7, p 3744 (2024)
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relativ
Externí odkaz:
https://doaj.org/article/b2520c6b1e1842d890582bce5d1ea665
Autor:
Paul E. Sladen, Arifa Naeem, Toyin Adefila-Ideozu, Tijmen Vermeule, Sophie L. Busson, Michel Michaelides, Stuart Naylor, Alexandria Forbes, Amelia Lane, Anastasios Georgiadis
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 3, p 1839 (2024)
Variants within the Retinitis Pigmentosa GTPase regulator (RPGR) gene are the predominant cause of X-Linked Retinitis Pigmentosa (XLRP), a common and severe form of inherited retinal disease. XLRP is characterised by the progressive degeneration and
Externí odkaz:
https://doaj.org/article/9518485a2f5c4d47a9131c00073d4aaf
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
Autor:
Neringa Jurkute, Francesca Cancellieri, Lisa Pohl, Catherina H. Z. Li, Robert A. Heaton, Janine Reurink, James Bellingham, Mathieu Quinodoz, Georgia Yioti, Maria Stefaniotou, Marianna Weener, Theresia Zuleger, Tobias B. Haack, Katarina Stingl, Genomics England Research Consortium, Carel B. Hoyng, Omar A. Mahroo, Iain Hargreaves, F. Lucy Raymond, Michel Michaelides, Carlo Rivolta, Susanne Kohl, Susanne Roosing, Andrew R. Webster, Gavin Arno
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Abstract The aim of this study was to investigate coenzyme Q10 (CoQ10) biosynthesis pathway defects in inherited retinal dystrophy. Individuals affected by inherited retinal dystrophy (IRD) underwent exome or genome sequencing for molecular diagnosis
Externí odkaz:
https://doaj.org/article/ae76adbc0da54571bc1728c69c317feb