نتایج جستجو برای: inherited neurodevelopmental disease
تعداد نتایج: 1517926 فیلتر نتایج به سال:
Autism spectrum disorder (ASD) is a heterogeneous, highly heritable neurodevelopmental syndrome characterized by impaired social interaction, communication, and repetitive behavior. It is estimated that hundreds of genes contribute to ASD. We asked if genes with a strong effect on survival and fitness contribute to ASD risk. Human orthologs of genes with an essential role in pre- and postnatal ...
Many authors view schizophrenia as a neurodevelopmental disorder. Knowledge of whether patients have morphologic variants that occur during the development of different anatomic areas of the brain and an understanding of the relation between such variants and brain development or prenatal exposure to possible noxae could provide clues about the events that lead to schizophrenia. Nonspecific mor...
The study of Lesch-Nyhan-diseased (LND) human brain is crucial for understanding how mutant hypoxanthine-phosphoribosyltransferase (HPRT) might lead to neuronal dysfunction. Since LND is a rare, inherited disorder caused by a deficiency of the enzyme HPRT, human neural stem cells (hNSCs) that carry this mutation are a precious source for delineating the consequences of HPRT deficiency and for d...
objective to evaluate the developmental situation of children that undergo operation because of syndromic and non-syndromic craniosynostosis. materials & methods in this prospective study, 24 children (4 to 16 months of age) who underwent neurosurgeryical intervention because of non-syndromic (79%) and syndromic (21%) craniosynostosis were recruited. for psychological evaluation, the bayley sca...
conclusions: we determined a significant higher frequency of protein s deficiency in patients with rpl compared with controls. but the frequency of protein c deficiency and the frequency of two common thrombophilic mutations (factor v leiden and prothrombin g20210a), were not significantly different between patients with recurrent miscarriage and healthy women. results: the mean functional acti...
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