Results 101 to 110 of about 98,421 (364)
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 +6 more
core +2 more sources
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Orbital causes of incomitant strabismus [PDF]
, 2015 Strabismus may result from abnormal innervation, structure, or function of the extraocular muscles. Abnormalities of the orbital bones or masses within the orbit may also cause strabismus due to indirect effects on the extraocular muscles.
Lueder, Gregg T
core +3 more sources
Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner +11 more
wiley +1 more source
Knowledge and attitude towards strabismus among parents of Saudi children with strabismus
International Surgery Journal, 2019 Background: For early detection and timely management of strabismus in children, parent’s cooperation is essential. It depends upon their level of awareness.
Sultan A. Alzuhairy +3 more
semanticscholar +1 more source
Compound Heterozygosity in PGAP3 Causing Mabry Syndrome in a South African Patient
American Journal of Medical Genetics Part A, EarlyView.
Carli Loubser, Shahida Moosa
wiley +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
BMC Ophthalmology, 2017 BackgroundLimited data exist collating most of the associated factors for strabismus in one analysis. The aim of this study was to assess the prevalence of strabismus and to analyse associated factors in former preterm and full-term infants.MethodsIn ...
Achim Fieß +6 more
semanticscholar +1 more source
Repeatability of the measurement of the horizontal phoria in near vision with cover test and modified thorington method [PDF]
, 2017 Objectiu- Estudiar la repetibilitat del cover test alternant i el mètode modificat de Thorington. Mètode- En aquest estudi han participat 10 persones joves i sanes amb agudesa visual de prop igual o superior a 20/20 amb la seva correcció habitual.
Gervilla Díaz, Gemma
core
CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy
Pediatric Investigation, EarlyView.Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo +18 more
wiley +1 more source