نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Cystic Fibrosis (CF) is an inherited disease that affects multiple organ systems. It is the most common cause of severe progressive lung disease and exocrine panceratic insufficiency. In our investigation 67 patients had CF. Of these, 79% had panceratic insufficiency and 92% had lung disease under 2 years age. Also 67% of patients were < 2 percentile and 28% between 3-10 percentile weight for a...
Both genetic and environmental factors contribute to the pathogenesis of a wide variety of neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. Some heritable disorders approach 100% penetrance; nonetheless, even in these disorders, subtle aspects of clinical disease expression may be influenced by the environment. In other disorders with genetic influences, ex...
BACKGROUND De novo mutations are a frequent cause of disorders related to brain development. We report the results of screening patients diagnosed with both epilepsy and intellectual disability (ID) using exome sequencing to identify known and new causative de novo mutations relevant to these conditions. METHODS Exome sequencing was performed on 39 patient-parent trios to identify de novo mut...
BACKGROUND Autism spectrum disorders (ASD) are a group of neurodevelopmental disorders with high heritability. Recent findings support a highly heterogeneous and complex genetic etiology including rare de novo and inherited mutations or chromosomal rearrangements as well as double or multiple hits. METHODS We performed whole-exome sequencing (WES) and blood cell transcriptome by RNAseq in a s...
The GPHN gene codes for gephyrin, a key scaffolding protein in the neuronal postsynaptic membrane, responsible for the clustering and localization of glycine and GABA receptors at inhibitory synapses. Gephyrin has well-established functional links with several synaptic proteins that have been implicated in genetic risk for neurodevelopmental disorders such as autism spectrum disorder (ASD), sch...
short rib polydactyly syndrome (srps) is a very rare congenital anomaly that is classified into four subtypes. it is an autosomal recessive inherited disease. we report a case of this syndrome without a previous family history of congenital defects.
The contactin-associated protein-like 2 (CNTNAP2) gene is highly expressed in the frontal lobe circuits in the developing human brain. Mutations in this gene have been associated with several neurodevelopmental disorders such as autism and specific language impairment. Here we describe a 450 kb deletion within the CNTNAP2 gene that is maternally inherited in two male siblings, but with a variab...
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. W...
Study Examines Epigenetic Effects of Fungicide Exposure A mother’s environmental exposure can result in transgenerational effects that are inherited through successive generations, even in the absence of exposure of the offspring. A new proof-of-principle study reports that great-grandchildren of rats exposed to the common fungicide vinclozolin showed a more profound behavioral and neurodevelop...
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