Zobrazeno 1 - 10
of 112
pro vyhledávání: '"Andrea L, Vincent"'
Autor:
Rebekkah J. Hitti-Malin, Daan M. Panneman, Zelia Corradi, Erica G. M. Boonen, Galuh Astuti, Claire-Marie Dhaenens, Heidi Stöhr, Bernhard H. F. Weber, Dror Sharon, Eyal Banin, Marianthi Karali, Sandro Banfi, Tamar Ben-Yosef, Damjan Glavač, G. Jane Farrar, Carmen Ayuso, Petra Liskova, Lubica Dudakova, Marie Vajter, Monika Ołdak, Jacek P. Szaflik, Anna Matynia, Michael B. Gorin, Kati Kämpjärvi, Miriam Bauwens, Elfride De Baere, Carel B. Hoyng, Catherina H. Z. Li, Caroline C. W. Klaver, Chris F. Inglehearn, Kaoru Fujinami, Carlo Rivolta, Rando Allikmets, Jana Zernant, Winston Lee, Osvaldo L. Podhajcer, Ana Fakin, Jana Sajovic, Alaa AlTalbishi, Sandra Valeina, Gita Taurina, Andrea L. Vincent, Lisa Roberts, Raj Ramesar, Giovanna Sartor, Elena Luppi, Susan M. Downes, L. Ingeborgh van den Born, Terri L. McLaren, John N. De Roach, Tina M. Lamey, Jennifer A. Thompson, Fred K. Chen, Anna M. Tracewska, Smaragda Kamakari, Juliana Maria Ferraz Sallum, Hanno J. Bolz, Hülya Kayserili, Susanne Roosing, Frans P. M. Cremers
Publikováno v:
Biomolecules, Vol 14, Iss 3, p 367 (2024)
Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the central region of the retina. To investigate the genetic basis of iMDs, we used single-molecule Molecular Inversion Probes to sequence 105 maculopathy-associated
Externí odkaz:
https://doaj.org/article/a59ac914048b4e7daf70faf03534c762
Autor:
Pushkar Raj Silwal, Arier C Lee, David Squirrell, Jinfeng Zhao, Matire Harwood, Andrea L Vincent, Rinki Murphy, Shanthi Ameratunga, Jacqueline Ramke
Publikováno v:
PLoS ONE, Vol 18, Iss 5, p e0285904 (2023)
ObjectiveTo assess diabetes eye service use in New Zealand among people aged ≥15 years by estimating service attendance, biennial screening rate, and disparities in the use of screening and treatment services.MethodsWe obtained Ministry of Health d
Externí odkaz:
https://doaj.org/article/7bbdc4fe5dae4933971325cdbde14b40
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 18, Iss , Pp - (2020)
Purpose: To describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease. Observations: Three affected members from each famil
Externí odkaz:
https://doaj.org/article/7ab5dfc62d504dc3bffa41383137849e
Autor:
Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova
Publikováno v:
Journal of Ophthalmology, Vol 2020 (2020)
Background. The aim of the study was to identify the molecular genetic cause of two different Mendelian traits with ocular involvement present in the members of a single consanguineous Czech Roma family. Methods. We have performed ocular examination
Externí odkaz:
https://doaj.org/article/a9f5bf8ee86445b5839f539bb8755dd6
Autor:
Natasha Spiteri, Nino Hirnschall, Katherine van Bysterveldt, Alec Lin Hou, Gregory Moloney, Matthew Ball, Andrea L. Vincent
Publikováno v:
Vision, Vol 5, Iss 4, p 47 (2021)
Purpose: To investigate whether Fuchs endothelial corneal dystrophy (FECD) genotype, specifically transcription factor 4 (TCF4) CTG triplet repeat “load” predicts time to clearance following Descemet’s Stripping Only (DSO). Methods: This prospe
Externí odkaz:
https://doaj.org/article/4388ab24fcaf42ac8ab886220a8c48f6
Autor:
Rachael C. Heath Jeffery, Johnny Lo, Jennifer A. Thompson, Tina M. Lamey, Terri L. McLaren, John N. De Roach, Lauren N. Ayton, Andrea L. Vincent, Abhishek Sharma, Fred K. Chen
Publikováno v:
Ophthalmology Retina.
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 15, Iss , Pp - (2019)
Purpose: To highlight the striking similarities between the lesions of congenital toxoplasmosis (CT) and North Carolina Macular Dystrophy (NCMD) using multimodal imaging including spectral domain optical coherence tomography (SD-OCT). Observations: W
Externí odkaz:
https://doaj.org/article/38cdb92a8584490eb293adcf8cf7636c
Autor:
Shilpa E. Kuruvilla, Eileen Song, Naz Raoof, Katherine van Bysterveldt, Verity F. Oliver, Sheng Chiong Hong, Rasha Al‐Taie, Graham Wilson, Andrea L. Vincent
Publikováno v:
Clinical & Experimental Ophthalmology.
Publikováno v:
Clinical & Experimental Ophthalmology. 49:477-497
Megalocornea and anterior megalophthalmos (megalocornea spectrum) disorders are typically defined by corneal diameter > 12.5 mm in the absence of elevated intraocular pressure. Clinical features overlap with keratoglobus but are distinct from buphtha
Autor:
Bernd, Wissinger, Britta, Baumann, Elena, Buena-Atienza, Zeinab, Ravesh, Artur V, Cideciyan, Katarina, Stingl, Isabelle, Audo, Isabelle, Meunier, Beatrice, Bocquet, Elias I, Traboulsi, Alison J, Hardcastle, Jessica C, Gardner, Michel, Michaelides, Kari E, Branham, Thomas, Rosenberg, Sten, Andreasson, Hélène, Dollfus, David, Birch, Andrea L, Vincent, Loreto, Martorell, Jaume, Català Mora, Ulrich, Kellner, Klaus, Rüther, Birgit, Lorenz, Markus N, Preising, Emanuela, Manfredini, Yuri A, Zarate, Raymon, Vijzelaar, Eberhart, Zrenner, Samuel G, Jacobson, Susanne, Kohl
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(27)
Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an