Higher scores on autonomic symptom scales in pediatric patients with neurodevelopmental disorders of known genetic etiology
Sign Up to like & getrecommendations! Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2813
Abstract: Features of underlying autonomic dysfunction, including sleep disturbances, gastrointestinal problems, and atypical heart rate, have been reported in neurodevelopmental conditions, including autism spectrum disorder (ASD). The current cross‐sectional, between‐groups study aimed to quantify symptoms of… read more here.
Keywords: autonomic symptom; etiology; symptom scales; scores autonomic ... See more keywords
MicroRNAs in Genetic Etiology of Human Diseases.
Sign Up to like & getrecommendations! Published in 2021 at "Methods in molecular biology"
DOI: 10.1007/978-1-0716-1170-8_13
Abstract: Since their first discovery more than 20 years ago, miRNAs have been subject to deliberate research and analysis for revealing their physiological or pathological involvement. Regulatory roles of miRNAs in signal transduction, gene expression, and cellular… read more here.
Keywords: etiology human; etiology; biology; micrornas genetic ... See more keywords
Genetic etiology of oral cancer.
Sign Up to like & getrecommendations! Published in 2017 at "Oral oncology"
DOI: 10.1016/j.oraloncology.2017.05.004
Abstract: Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide. It accounts for 2.5% of all new cancer cases and 1.9% of all cancer deaths annually. More than 90% of oral… read more here.
Keywords: etiology; oral cancer; etiology oral; cancer ... See more keywords
The Ketogenic and Modified Atkins Diet Therapy for Children With Refractory Epilepsy of Genetic Etiology.
Sign Up to like & getrecommendations! Published in 2019 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2018.12.012
Abstract: BACKGROUND The ketogenic diet is an accepted treatment modality in refractory childhood epilepsy. In this study, we analyzed the efficacy and tolerability of the ketogenic and modified Atkins diets in children with refractory epilepsy of… read more here.
Keywords: refractory epilepsy; etiology; children refractory; modified atkins ... See more keywords
Crossing diagnostic boundaries to understand the genetic etiology of addiction
Sign Up to like & getrecommendations! Published in 2021 at "Neuropsychopharmacology"
DOI: 10.1038/s41386-021-01245-6
Abstract: Substance use disorders are complex psychiatric conditions that impose a significant burden on affected individuals, their families, and communities broadly. They are highly prevalent worldwide, influenced by a tangled constellation of interrelated environmental and biological… read more here.
Keywords: substance; diagnostic boundaries; genetic etiology; etiology ... See more keywords
Nonimmune hydrops fetalis: identifying the underlying genetic etiology
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/s41436-018-0352-6
Abstract: ABSTRACTPurposeNumerous etiologies may lead to nonimmune hydrops fetalis (NIHF), and the underlying cause often remains unclear. We aimed to determine the proportion of NIHF cases in which the etiology was clearly determined in a large,… read more here.
Keywords: nonimmune hydrops; etiology; nihf cases; hydrops fetalis ... See more keywords
Genetic etiology of ventriculomegaly in 73 fetuses identified by High-Throughput sequencing
Sign Up to like & getrecommendations! Published in 2025 at "Scientific Reports"
DOI: 10.1038/s41598-025-06714-2
Abstract: To investigate the genetic etiology of ventriculomegaly (VM) in fetuses by analyzing chromosomal aberrations and genetic variations through high-throughput sequencing. Clinical data and samples (amniotic fluid or miscarriage tissue) were collected from fetuses with ventricular… read more here.
Keywords: high throughput; etiology ventriculomegaly; etiology; throughput sequencing ... See more keywords
Outcome of Cochlear Implantation in Prelingually Deafened Children According to Molecular Genetic Etiology
Sign Up to like & getrecommendations! Published in 2017 at "Ear and Hearing"
DOI: 10.1097/aud.0000000000000437
Abstract: Objectives: About 60% of Korean pediatric cochlear implantees could be genetically diagnosed (GD) and we previously reported that a substantial portion of undiagnosed cases by deafness gene panel sequencing were predicted to have a nongenetic… read more here.
Keywords: etiology; cochlear implantees; group; molecular genetic ... See more keywords
GENETIC ETIOLOGY AND CLINICAL FEATURES OF ACHROMATOPSIA IN JAPAN
Sign Up to like & getrecommendations! Published in 2024 at "Retina"
DOI: 10.1097/iae.0000000000004170
Abstract: Supplemental Digital Content is Available in the Text. We reviewed the records of 52 patients with achromatopsia, from 47 Japanese families, and found that the causative gene variants differed from those in Europe. The low… read more here.
Keywords: whole exome; etiology; exome sequencing; genetic etiology ... See more keywords
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family
Sign Up to like & getrecommendations! Published in 2024 at "Open Life Sciences"
DOI: 10.1515/biol-2022-0853
Abstract: Abstract A comprehensive survey was carried out to investigate the genetic etiology of short stature in children by whole exon sequencing of a core family cohort to find and study mutations in multiple genes to… read more here.
Keywords: short stature; etiology short; core; etiology ... See more keywords
Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2024-0058
Abstract: Abstract Objectives Osteogenesis imperfecta (OI) is a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. This study aimed to investigate the molecular genetic etiology… read more here.
Keywords: whole exome; etiology; col1a1 col1a2; osteogenesis imperfecta ... See more keywords