Results 181 to 190 of about 1,614,131 (378)

Industry‐Reported Financial Relationships Among American Ophthalmology Society Board Members

open access: yesClinical &Experimental Ophthalmology, EarlyView.
ABSTRACT Background To assess financial disclosures of American ophthalmology society board members by comparing self‐reported disclosures with industry‐reported payments and examining characteristics linked to larger financial relationships. Methods In this retrospective, cross‐sectional study, we assessed all governance board members from American ...
Mostafa Bondok   +4 more
wiley   +1 more source

A Novel Homozygous Nonsense Pathogenic Variant of the CPAMD8 Gene Associated With Congenital Microcoria

open access: yesClinical Genetics, EarlyView.
A novel CPAMD8 nonsense mutation c.2679C>G (p.Tyr893*) was identified in a patient with congenital microcoria, leading to reduced mRNA expression and predicted protein truncation. ABSTRACT Congenital microcoria (MCOR) is a rare inherited ocular disorder. Here, we describe a novel nonsense variant in the CPAMD8 gene in a patient with MCOR.
Jing‐Fan Gao   +4 more
wiley   +1 more source

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

open access: yesClinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis   +19 more
wiley   +1 more source

Impact of clinical and patient‐reported outcomes on patient satisfaction with cataract extraction

open access: yesHealth Expectations, 2014
S. García-Gutiérrez   +5 more
semanticscholar   +1 more source

Retinal Pigment Epitheliopathy due to Sub‐Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11‐Related Phenotype

open access: yesClinical Genetics, EarlyView.
RDH11 is a minor isoenzyme that catalyses the oxidation of 11‐cis‐retinol to 11‐cis‐retinal in the retinal pigment epithelium, alongside RDH5 and RDH10. Biallelic null variants in RDH11 lead to upregulation of RDH5 and RDH10 (transcriptional adaptation), maintaining 11‐cis‐retinal bioavailability, but still causing Retinal Pigment Epitheliopathy due to
Kirk A. J. Stephenson   +11 more
wiley   +1 more source

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