Results 91 to 100 of about 94,278 (287)
American 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
Compensatory Epithelial Hyperplasia in Human Corneal Disease [PDF]
, 1992 Edward C Dillon +2 more
openalex +1 more source
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American 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
Diagnosis and treatment of conjunctival and corneal diseases [PDF]
, 1995 Mark P. Nasisse
openalex +1 more source
Complications in Endoscopic Sinus Surgery: A TriNetX Network Analysis
International 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
High-dose ocular infection with a herpes simplex virus type 1 ICP34.5 deletion mutant produces no corneal disease or neurovirulence yet results in wild-type levels of spontaneous reactivation [PDF]
, 1996 Guey‐Chuen Perng +4 more
openalex +1 more source
Animal 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
Transmission of Creutzfeldt-Jakob disease in corneal grafts [PDF]
, 1997 Bruce Allan, Stephen J. Tuft
openalex +1 more source
Animal Models and Experimental Medicine, EarlyView.Multiple low dose streptozotocin‐induced diabetes is a valuable animal model of diabetes type 1. It should be improved by further research on autoantigens, microbiota and mucosal immune cells from the gut, but also from other organs. Abstract The autoimmune response directed against pancreatic β cells is the most essential pathogenic process in type 1 ...
Ivan Koprivica +4 more
wiley +1 more source