Results 41 to 50 of about 682,435 (246)
Cerebellar Abnormalities in the Neuroimaging Spectrum of CLTC‐Related Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in CLTC, which encodes the clathrin heavy chain involved in vesicle‐mediated trafficking in neurons, cause a rare neurodevelopmental disorder associated with variable severity of global developmental delay and intellectual disability and structural brain abnormalities. Although corpus callosum and white matter anomalies are
Daniel Charouf +7 more
wiley +1 more source
Офтальмохирургия, 2021 Purpose. Comparative evaluation of patients’ rehabilitation using less traumatic STRABO care technique and traditional methods of strabismus surgery. Material and methods. Sixty-two patients with esotropia were included in the study.
I. E. Aznauryan +4 more
doaj +1 more source
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years.
Ole Haubjerg Nielsen +8 more
wiley +1 more source
Issues of Supplemental Support in Pediatric Ophthalmology
Oftalʹmologiâ, 2020 The ophthalmologist often raises the issues about using of various vitamins, trace elements and other nutrients for the prevention and treatment of the different ocular diseases at their practice.
I. A. Gndoyan
doaj +1 more source
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert +31 more
wiley +1 more source
Michigan Ophthalmology Pipeline: Exploring a Mentorship Model to Increase Diversity in Ophthalmology
, 2020 Background Ethnic concordance between physicians and patients improves compliance and therapeutic benefit. Current literature shows a lack of diversity within ophthalmology.
Shaner, Mason A. +9 more
core +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
Gauging Public Interest in Pediatric Ophthalmology Conditions Using Google Trends
Google Trends data were analyzed to assess search trends for pediatric ophthalmology and strabismus terms from 2010 to 2022. The highest average search volumes were “lazy eye,” “strabismus,” and “vision therapy.” “Amblyopia” had the lowest search volume.
Shaheen, Abdulla +3 more
core +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