Results 121 to 130 of about 9,329,954 (313)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero   +17 more
wiley   +1 more source

ROCK Inhibitors in Corneal Diseases and Glaucoma-A Comprehensive Review of These Emerging Drugs. [PDF]

open access: yesJ Clin Med, 2023
Pagano L   +5 more
europepmc   +1 more source

Compensatory Epithelial Hyperplasia in Human Corneal Disease [PDF]

open access: green, 1992
Edward C Dillon   +2 more
openalex   +1 more source

Novel Intragenic Duplication of GATAD2B in a Patient With GAND

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori   +9 more
wiley   +1 more source

Complications in Endoscopic Sinus Surgery: A TriNetX Network Analysis

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
Abstract Background The potential complications of endoscopic sinus surgery (ESS) remain a critical surgical consideration. This study aims to examine complication rates and identify trends in ESS‐related complications. Methods The TriNetX network was queried for patients undergoing ESS between 2005 and 2024.
Jakob L. Fischer   +8 more
wiley   +1 more source

Establishment of a novel alloxan‐induced rabbit model exhibiting unique diabetic retinal neuropathy features assessed via ERG + VEP

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Study workflow. Neuroretinal changes were observed in alloxan‐induced diabetic rabbits, while the retinal vasculature remained unaffected, indicating the successful establishment of a diabetic neuroretinal model. Abstract Background Diabetic retinal neuropathy (DRN) leads to significant visual impairment; however, no existing animal model fully ...
Xinlu Li   +9 more
wiley   +1 more source

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