Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
Sign Up to like & getrecommendations! Published in 2022 at "Psychiatric Genetics"
DOI: 10.1097/ypg.0000000000000319
Abstract: Introduction The complex structure of the chromosome 2q12.3-q13 region provides a high chance of recombination events between various low copy repeats (LCRs). Copy number variants (CNV) in this region are present in both healthy populations… read more here.
Keywords: chromosome 2q12; 2q12 q13; number variants; cnvs ... See more keywords
P286 Analysis of patients with neurodevelopmental disorders in primary paediatric practice in croatia
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DOI: 10.1136/archdischild-2017-313273.374
Abstract: Background and aims The aim was to analyse risk factors and neuromotor outcome in patients with neurodevelopmental disorders in our primary paediatric practice. Methods Retrospective analysis was performed on 114 children (62 M and 52… read more here.
Keywords: disorders primary; analysis; paediatric practice; primary paediatric ... See more keywords
Selenium Status in Paediatric Patients with Neurodevelopmental Diseases
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DOI: 10.3390/nu14122375
Abstract: Neurodevelopmental diseases are often associated with other comorbidities, especially inflammatory processes. The disease may affect the trace element (TE) status, which in turn may affect disease severity and progression. Selenium (Se) is an essential TE… read more here.
Keywords: neurodevelopmental diseases; paediatric patients; gpx3 activity; status ... See more keywords