Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Eduardo D. Silva"'
Autor:
Annegret Dahlmann-Noor, Stefano Bonini, Dominique Bremond-Gignac, Steffen Heegaard, Andrea Leonardi, Jesús Montero, Eduardo D. Silva, The EUR-VKC Group
Publikováno v:
Ophthalmology and Therapy, Vol 12, Iss 2, Pp 1207-1222 (2023)
Plain Language Summary Vernal keratoconjunctivitis (VKC) is a rare, underdiagnosed, chronic allergic eye disease that typically occurs in children and adolescents. If left untreated, VKC can significantly damage the eye, potentially leading to long-t
Externí odkaz:
https://doaj.org/article/7a7dde36901b4ce8b1906fce34fe3470
Autor:
Pedro Barros, Sandra Guimaraes, Andreia Soares, Cristina Freitas, Ricardo Dourado Leite, Patrício Soares Costa, Eduardo D Silva
Publikováno v:
BMJ Open Ophthalmology, Vol 6, Iss 1 (2021)
Objective To study the effectiveness of amblyopia screening at ages 3–4.Methods and Analysis From a population with no previous screening, a cohort of 2300 children with 3–4 years old attending school (91% of children this age attend school in Po
Externí odkaz:
https://doaj.org/article/b09bec8f2c924373af61ad416cdc882d
Publikováno v:
Journal of binocular vision and ocular motility. 72(2)
Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the
Autor:
Morad Ansari, Jacqueline Rainger, Isabel M Hanson, Kathleen A Williamson, Freddie Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton-Smith, Helene Dollfus, Pierre Bitoun, Francoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S Taylor, Fiona Stewart, Colin E Willoughby, Meriel McEntagart, Peng Tee Khaw, Carol Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury-Ecob, Elias I Traboulsi, Eduardo D Silva, Mukhlis M Madlom, David R Goudie, Brian W Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice D McTrusty, Carol Gardiner, Christopher Yale, Anthony T Moore, Isabelle Russell-Eggitt, Lily Islam, Melissa Lees, Philip L Beales, Stephen J Tuft, Juan B Solano, Miranda Splitt, Jens Michael Hertz, Trine E Prescott, Deborah J Shears, Ken K Nischal, Martine Doco-Fenzy, Fabienne Prieur, I Karen Temple, Katherine L Lachlan, Giuseppe Damante, Danny A Morrison, Veronica van Heyningen, David R FitzPatrick
Publikováno v:
PLoS ONE, Vol 11, Iss 4, p e0153757 (2016)
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals r
Externí odkaz:
https://doaj.org/article/b653c7a9f55349049c0c5eae18e1736f
Autor:
João Carlos Ribeiro, João Simões, Filipe Silva, Eduardo D Silva, Cornelia Hummel, Thomas Hummel, António Paiva
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0148937 (2016)
The cross-cultural adaptation and validation of the Sniffin`Sticks test for the Portuguese population is described. Over 270 people participated in four experiments. In Experiment 1, 67 participants rated the familiarity of presented odors and seven
Externí odkaz:
https://doaj.org/article/9ff9ae6ca91c47f8858dad377f72d117
Autor:
Belinda Campos-Xavier, Noriko Miyake, Andrea Superti-Furga, Gabriela Ferraz Leal, Mathieu Quinodoz, Sérgio B. Sousa, Elizabeth C. Engle, Virginie G. Peter, Silvio Alessandro Di Gioia, Naomichi Matsumoto, Jorge Pinto-Basto, Carlo Rivolta, Sheila Unger, Frederic Shapiro, Rosanna Pescini Gobert, Eduardo D. Silva, Gabriela Soares
Publikováno v:
Genetics in Medicine
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Genetics in medicine, vol. 21, no. 12, pp. 2734-2743
Purpose We observed four individuals in two unrelated but consanguineous families from Portugal and Brazil affected by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with sc
Autor:
Ana Luisa Pina, Robert K. Koenekoop, George Theodossiadis, Sharola Dharmaraj, Elias I. Traboulsi, Irene H. Maumenee, Yingying Li, Olof H. Sundin, Eduardo D Silva, Robert Colin Carter, Magali Loyer
Publikováno v:
Ophthalmic Genetics. 25:205-217
Leber congenital amaurosis (LCA) is a clinically and genetically heterogeneous severe retinal dystrophy presenting in infancy. To explain the phenotypical variability observed in two affected siblings of a consanguineous pedigree diagnosed with LCA a
Autor:
M.Robert De Jong, David G. Hunter, Janet S. Sunness, Olof H. Sundin, Ran Zeimer, Morton F. Goldberg, Eduardo D Silva, Cameron F. Parsa
Publikováno v:
Ophthalmology. 108:738-749
Purpose To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause. Design Observational case series and genetic study. Participants Two unrela
Autor:
Olof H. Sundin, Irene Hussels Maumenee, Eduardo D Silva, Jun Ming Yang, Danping Zhu, Jane N. Hurd, Thomas N. Mitchell, Yingying Li
Publikováno v:
Nature Genetics. 25:289-293
Complete achromatopsia is a rare, autosomal recessive disorder characterized by photophobia, low visual acuity, nystagmus and a total inability to distinguish colours. In this disease, cone photoreceptors, the retinal sensory neurons mediating colour
Autor:
Ana Travassos, Eduardo D. Silva, António Travassos, Mário Alfaiate, Isaura Regadas, Rui Proença
Publikováno v:
Retina (Philadelphia, Pa.). 33(8)