Animal Models of Pancreas Development, Developmental Disorders, and Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-981-15-2389-2_3
Abstract: The pancreas is a glandular organ responsible for diverse homeostatic functions, including hormone production from the endocrine islet cells to regulate blood sugar levels and enzyme secretion from the exocrine acinar cells to facilitate food… read more here.
Keywords: developmental disorders; pancreas development; development developmental; models pancreas ... See more keywords
Seizure disorders and developmental disorders: impact on life of affected families—a structured interview
Sign Up to like & getrecommendations! Published in 2017 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-017-2958-0
Abstract: AbstractSeizure disorder and developmental disorder are two of the most common chronic disorders in childhood. Data on perceived parental burden and specific effects on daily life is scarce. We performed a structured interview, consecutively talking… read more here.
Keywords: developmental disorders; disorder; seizure; developmental disorder ... See more keywords
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02178-8
Abstract: Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes involved in human genetic disorders, the… read more here.
Keywords: exome sequencing; developmental disorders; clinical exome; trio ... See more keywords
Anxiety Levels of Children with Developmental Disorders in Japan: Based on Reports Provided by Parents
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DOI: 10.1007/s10803-019-04092-z
Abstract: A large number of children with developmental disorders like autism spectrum disorder (ASD), learning disabilities, and attention deficit hyperactivity disorder have high anxiety. It has also been shown that the high anxiety has harmful effects… read more here.
Keywords: high anxiety; children developmental; developmental disorders; anxiety ... See more keywords
Epidemiological Screening for the Risk of Mental, Behavioral and Developmental Disorders, Including Autism, in Early Childhood: Data for Russia 2017-2019.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of autism and developmental disorders"
DOI: 10.1007/s10803-022-05546-7
Abstract: We aimed to screen children aged 18-48Â months in the general population of nine Russian regions for risk of mental, behavioral and developmental disorders (MBDDs) including autism spectrum disorders (ASD) using an original screening tool. The… read more here.
Keywords: risk mental; behavioral developmental; mental behavioral; developmental disorders ... See more keywords
The influence of intelligence and cognitive abilities on the reading ability of Japanese students with developmental disorders
Sign Up to like & getrecommendations! Published in 2022 at "Brain and Development"
DOI: 10.1016/j.braindev.2022.02.006
Abstract: OBJECTIVE We examined the differences in reading skills between Japanese students with developmental dyslexia (DD) having developmental disorders who had borderline IQ (BIQ) and those who had normal IQ (NIQ), and the influence of cognitive… read more here.
Keywords: intelligence; influence; developmental disorders; students developmental ... See more keywords
Response to name and its value for the early detection of developmental disorders: Insights from autism spectrum disorder, Rett syndrome, and fragile X syndrome. A perspectives paper.
Sign Up to like & getrecommendations! Published in 2018 at "Research in developmental disabilities"
DOI: 10.1016/j.ridd.2018.04.004
Abstract: BACKGROUND Responding to one's own name (RtN) has been reported as atypical in children with developmental disorders, yet comparative studies on RtN across syndromes are rare. AIMS We aim to (a) overview the literature on… read more here.
Keywords: rtn; developmental disorders; early detection; disorder ... See more keywords
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Metabolism Reports"
DOI: 10.1016/j.ymgmr.2021.100812
Abstract: Considering that some Inherited Metabolic Disorders (IMDs) can be diagnosed in patients with no distinctive clinical features of IMDs, we aimed to evaluate the power of exome sequencing (ES) to diagnose IMDs within a cohort… read more here.
Keywords: cohort 547; exome sequencing; developmental disorders; inherited metabolic ... See more keywords
Prevalence and architecture of de novo mutations in developmental disorders
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DOI: 10.1038/nature21062
Abstract: The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders,… read more here.
Keywords: developmental disorders; novo mutations; prevalence architecture; mutations developmental ... See more keywords
Contribution of retrotransposition to developmental disorders
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DOI: 10.1038/s41467-019-12520-y
Abstract: Mobile genetic Elements (MEs) are segments of DNA which can copy themselves and other transcribed sequences through the process of retrotransposition (RT). In humans several disorders have been attributed to RT, but the role of… read more here.
Keywords: retrotransposition developmental; retrotransposition; contribution retrotransposition; developmental disorders ... See more keywords
Dynamic changes in the epigenomic landscape regulate human organogenesis and link to developmental disorders
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DOI: 10.1038/s41467-020-17305-2
Abstract: How the genome activates or silences transcriptional programmes governs organ formation. Little is known in human embryos undermining our ability to benchmark the fidelity of stem cell differentiation or cell programming, or interpret the pathogenicity… read more here.
Keywords: dynamic changes; epigenomic landscape; human organogenesis; developmental disorders ... See more keywords