Results 31 to 40 of about 13,016 (165)
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
Spinal Involvement in Charge Syndrome: Implications for Management
American 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
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno +8 more
wiley +1 more source
ABCB6 Mutations Cause Ocular Coloboma [PDF]
, 2012 Ocular coloboma is a developmental defect of the eye and is due to abnormal or incomplete closure of the optic fissure. This disorder displays genetic and clinical heterogeneity.
Shi, Yi +27 more
core +1 more source
Developmental Dynamics, EarlyView.Abstract Background Transcription factors of the MIT/TFE family—mitfa, mitfb, and tfec—play essential roles in specifying pigment cells derived from neural crest cells in vertebrates. In teleosts, which possess multiple pigment cell types, these factors exhibit partially redundant but largely distinct functions across different pigment lineages.
James Lister +13 more
wiley +1 more source
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
Evaluation of Posterior Ocular Structures in Patients with Isolated Iris Coloboma
Beyoglu Eye Journal, 2020 INTRODUCTION[|]To measure lamina cribrosa thickness (LCT), lamina cribrosa depth (LCD) and subfoveal choroidal thickness (SFCT) by imaging posterior ocular structures in pediatric cases with isolated unilateral iris coloboma and to determine the ...
Serkan Akkaya
doaj +1 more source
Recurrent Meningitis with Upper Airway Obstruction in A Child: Frontonasal Encephalocele- A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2014 Nasal encephalocele are rare congenital anomalies; these benign masses may be confused with nasal dermoids, hemangiomas, nasal gliomas and anterior skull base masses.
Soumya Sachdeva +3 more
doaj +1 more source
A rare case of Haberland syndrome
Indian Journal of Ophthalmology. Case Reports, 2021 A 10-month-old male child presented with a mass lesion in the left eye which was present since birth as noted by the parents. It was non-progressive. He also had left eye upper eyelid coloboma and a single nodular lesion on the left zygomaticotemporal ...
Mohamed I Asif +4 more
doaj +1 more source