Results 181 to 190 of about 6,948,099 (297)

Ocular Surface Disease and Dry Eye Severity in Glaucoma Patients at Urban Private Eye Care Centres in Malaysia [PDF]

open access: yes
Eng Hui Gan,1 Wen Wei Woo,1 Kheong Fang Seng,1 Pall Singh,2 Ming Yueh Lee,3 Vui Yin Kong,4 Say Peng Khoo,4 Mun Wai Lee,5 Liau Kok Liang6 1International Specialist Eye Centre, Kuala Lumpur, Selangor, Malaysia; 2Tun Hussein Onn National Eye Hospital ...
Lee MW   +8 more
core  

Affected Persons in Laboratory Exposures to Human Pathogens and Toxins in Canada, 2016–2024: A Sector‐Specific Analysis

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Exposures to human pathogens and toxins in licensed facilities in Canada have been monitored by a federal surveillance system since 2015, yet the affected persons (APs) in these incidents remain uncharacterized. This study comprehensively describes APs, highlighting sector‐specific patterns and trends over time.
Emily F. Tran   +4 more
wiley   +1 more source

Prevalence, Associations, and Visual Impact of Myopic Macular Degeneration in a Multi-ethnic Older Population in Singapore: The PIONEER Study. [PDF]

open access: yesOphthalmol Ther
Cheong KX   +9 more
europepmc   +1 more source

Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan   +5 more
wiley   +1 more source

Global and Regional Risk Factors for Vision Impairment in 2020 and Multi-decadal Trends 1990-2020: A Meta-Analysis and Visual Display Based on Prevalence Data From the Global Burden of Disease study and Vision Loss Expert Group. [PDF]

open access: yesOphthalmic Physiol Opt
Bottone M   +27 more
europepmc   +1 more source

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen   +8 more
wiley   +1 more source

Patient perception of dry eye disease and treatment: a multinational, cross-sectional, digital survey. [PDF]

open access: yesBMJ Open
Wozniak PA   +7 more
europepmc   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice   +10 more
wiley   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes   +5 more
wiley   +1 more source

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