Results 81 to 90 of about 97,306 (377)

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Liprin‐α2, encoded by PPFIA2, belongs to the family of Liprin‐α proteins which constitute major synaptic scaffolds participating in the assembly and maturation of synapses. Heterozygous de novo variants in PPFIA2 were identified by exome or genome sequencing in two unrelated individuals with a neurodevelopmental disorder.
Theresa Brunet, Michael Zech, Ulrich A. Schatz, Miriam Adamovičová, Matias Wagner, Elisabeth Graf, Riccardo Berutti, Heike Weigand, Robert Jech, Thomas Meitinger, Juliane Winkelmann, Melanie Brugger   +11 more
wiley   +1 more source

Treatment timing and multidisciplinary approach in Apert syndrome [PDF]

, 2015
Apert syndrome is a rare congenital disorder characterized by craniosynostosis, midface hypoplasia and symmetric syndactyly of hands and feet. Abnormalities associated with Apert syndrome include premature fusion of coronal sutures system (coronal ...
CAPORLINGUA, ALESSANDRO, DI GIORGIO, GIANNI, FADDA, Maria Teresa, IERARDO, GAETANO, LADNIAK, BARBARA, RAPONI, INGRID, SILVESTRI, ALESSANDRO   +6 more
core   +2 more sources

Amblyopia, Strabismus and Refractive Errors in Congenital Ptosis: a systematic review and meta-analysis

Scientific Reports, 2018
Congenital ptosis may be associated with abnormalities of visual development and function, including amblyopia, strabismus and refractive errors. However, the prevalence estimates of these abnormalities vary widely.
Yijie Wang, Yufeng Xu, Xi Liu, L. Lou, Juan Ye   +4 more
semanticscholar   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Prevalence of Strabismus among Patients Attending Basrah Teaching Hospital, Basrah, Iraq [PDF]

Al-Anbar Medical Journal
Background: Strabismus is a relatively widespread disorder. However, there is no local relevant study examined its prevalence.Objectives: To measure the prevalence and types of strabismus.Materials and methods: The study was a hospital-based cross ...
Mohammed Al Ashoor, Hamid Al Taha
doaj   +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, Tyler J. Gallagher, Matthew E. Lin, Ian Kim, Bozena B. Wrobel, Daniel M. Beswick, Jivianne T. Lee, Marilene B. Wang, Jeffrey D. Suh   +8 more
wiley   +1 more source

Pattern Strabismus: Where Does the Brain's Role End and the Muscle's Begin?

Journal of Ophthalmology, 2013
Vertically incomitant pattern strabismus comprises 50% of infantile horizontal strabismus. The oblique muscle dysfunction has been associated with pattern strabismus.
Fatema F. Ghasia, Aasef G. Shaikh
doaj   +1 more source

Prevalence and risk factors of strabismus in children and adolescents in South Korea: Korea National Health and Nutrition Examination Survey, 2008–2011

PLoS ONE, 2018
Purpose To evaluate the prevalence and risk factors associated with horizontal strabismus in children and adolescents in South Korea. Methods A total of 5,935 children and adolescents 5–18 years of age who participated in the fourth and fifth Korean ...
K. Han, Seung-Hee Baek, Seung-Hyun Kim, K. Lim   +3 more
semanticscholar   +1 more source

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, EarlyView.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

Evaluation of Corneal Endothelium in Adolescents with Juvenile Glaucoma

Journal of Ophthalmology, 2015
Purpose. To evaluate the endothelial cell density (ECD) and central corneal thickness (CCT) in adolescents with juvenile open-angle glaucoma (JOAG) and ocular hypertension (OH) and to investigate the influence of topical antiglaucoma medications on ECD ...
Beata Urban, Alina Bakunowicz-Łazarczyk, Marta Michalczuk, Małgorzata Krętowska   +3 more
doaj   +1 more source