Results 31 to 40 of about 12,123 (207)
Novel Variant of RARB Gene in Familial Isolated Ocular Coloboma: A Case Report. [PDF]
Am J Case RepBACKGROUND Ocular coloboma is a rare congenital malformation of the optic fissure. Previous literature has indicated that pathogenic changes in the RARB gene are associated with syndromic ocular coloboma, specifically pulmonary hypoplasia/agenesis ...
Armstrong GZ +3 more
europepmc +2 more sources
, 2023 Coloboma is a term used to describe defects seen in various ocular structures due to incomplete embryologic development. Fundus coloboma specifically is due to failure of the embryonal fissure to close, which typically occurs by 5-7 weeks gestation ...
Kirstyn Taylor; Drew Scoles, MD
core
Nasopalpebral Lipoma sine Coloboma Syndrome—First Case Report
Indian Journal of Plastic Surgery, 2023 The nasopalpebral lipoma-coloboma syndrome was described for the first time in 1982. It is an autosomal dominant syndrome with complete penetrance and is characterized by features like congenital symmetric upper eyelid and nasopalpebral lipomas ...
Ved Prakash Rao Cheruvu +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, EarlyView.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
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure
Frontiers in Cell and Developmental Biology, 2021 A key embryonic process that occurs early in ocular development is optic fissure closure (OFC). This fusion process closes the ventral optic fissure and completes the circumferential continuity of the 3-dimensional eye.
Brian Ho Ching Chan +5 more
doaj +1 more source
Essential embryology for the Canadian pathologists’ assistant
Anatomical Sciences Education, EarlyView.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 isolated lens coloboma associated with bicuspid aortic valve
, 2015 A 27-year-old woman presented with a history of long-standing poor vision in both eyes. Ophthalmologic examination after pupillary dilatation revealed bilateral lens coloboma situated in the inferotemporal quadrant.
Mustafa Dogan (4529869) +4 more
core +2 more sources
Absence seizures: Update on signaling mechanisms and networks
Epilepsia Open, EarlyView.Abstract Absence seizures (AS) are a hallmark of genetic generalized epilepsies (GGE), characterized by brief episodes of impaired consciousness accompanied by electroencephalographic spike‐and‐wave discharges (SWDs). Traditionally attributed to cortico‐thalamo‐cortical (CTC) dysrhythmia, emerging evidence suggests a more intricate pathophysiological ...
Ozlem Akman, Filiz Onat
wiley +1 more source