Results 41 to 50 of about 10,524 (180)
Veterinary Ophthalmology, Volume 28, Issue 2, Page 448-456, March 2025.ABSTRACT Purpose To describe a surgical method for correcting lower lid entropion, lateral canthal entropion, and macroblepharon. Methods Lid margins were incised at a 45° angle, and lateral lid margins and a rhomboid shaped piece of skin were resected based on the degree of macroblepharon.
Maximilian Werner‐Tutschku +1 more
wiley +1 more source
Systemic and Ophthalmologic Findings in Patients with Iris Coloboma
Türk Oftalmoloji Dergisi, 2013 Pur po se: Ocular coloboma is a rare malformation resulting from defective closure of the embryonic optic fissure. It can affect iris, retina, choroid, optic disc or ciliary body. This study reviews the clinical diagnosis and the accompanying ocular and
Sevda Ertekin +3 more
doaj +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Clinical Genetics, Volume 110, Issue 3, Page 369-373, September 2026.We describe a previously unreported phenotype related to postzygotic ACTB variants with hypomelanosis of Ito, characterized by hypopigmentation associated or not with neurodevelopmental features, distinct from Becker presentations, bridging constitutional neurodevelopmental and somatic cutaneous phenotypes.
Estella Castillon +9 more
wiley +1 more source
A Case Report of Ocular Coloboma in the CT-Scan
مجله دانشکده پزشکی اصفهان, 2015 Background: This is to report a patient with ocular coloboma presented in optic nerve without microphthalmos and orbital cist. Case Report: A 13-years-old boy with optic disc coloboma was admitted with the best corrected vision of 20/70 and 20/80 in ...
Gholamali Naderian +3 more
doaj
Prevalences of Known and Presumed Inherited Eye Diseases in Pugs in Germany
Veterinary Ophthalmology, Volume 29, Issue 5, September 2026.ABSTRACT The aim of this retrospective study was to describe the prevalence and distribution of presumed inherited eye diseases in pugs in Germany and to evaluate potential risk factors for selected diseases. Therefore, ophthalmic findings from 294 pugs provided by the German panel of the European Eye Scheme programme were analyzed retrospectively ...
Carolin Lemle +2 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, Volume 19, Issue 7, Page 1134-1156, July 2026.Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci +4 more
wiley +1 more source
Bilateral optic nerve head drusen with chorioretinal coloboma in the right eye
Advanced Biomedical Research, 2016 Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Optic nerve head drusen (ONHD) are white calcareous deposits that are generally asymptomatic.
Ali Reza Dehghani +2 more
doaj +1 more source
Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity
BioEssays, Volume 48, Issue 7, July 2026.ABSTRACT In eukaryotes, DNA is not a naked repository of genetic information but is tightly wound around histone octamers to form nucleosomes. While this packaging solves the spatial problem of fitting 2 meters of DNA into a microscopic nucleus, it creates a massive accessibility problem for DNA‐templated events, including transcription, replication ...
İsa Özdemir, Sarah J. Hainer
wiley +1 more source