A patient with Down syndrome with a de novo derivative chromosome 21
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference24 articles.
1. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21;Arron;Nature,2006
2. Down syndrome congenital heart disease: a narrowed region and a candidate gene;Barlow;Genet. Med.,2001
3. Molecular mapping of twenty-four features of Down syndrome on chromosome 21;Delabar;Eur. J. Hum. Genet.,1993
4. Trisomy-driven overexpression of DYRK1A kinase in the brain of subjects with Down syndrome;Dowjat;Neurosci. Lett.,2007
5. Down syndrome (trisomy 21);Epstein,2001
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2. Mitochondria as pharmacological targets in Down syndrome;Free Radical Biology and Medicine;2018-01
3. Targeting trisomic treatments: optimizing Dyrk1a inhibition to improve Down syndrome deficits;Molecular Genetics & Genomic Medicine;2017-09
4. Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype;Human Molecular Genetics;2016-04-22
5. Mitochondrial dysfunction as a central actor in intellectual disability-related diseases: An overview of Down syndrome, autism, Fragile X and Rett syndrome;Neuroscience & Biobehavioral Reviews;2014-10
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