Microdeletion of the Down syndrome critical region at 21q22
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference19 articles.
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2. Clinical phenotype of germline RUNX1 haploinsufficiency: From point mutations to large genomic deletions;Beri-Dexheimer;Eur J Hum Genet,2008
3. Dosage-dependent gene regulation in multicellular eukaryotes: Implications for dosage compensation, aneuploid syndromes, and quantitative traits;Birchler;Dev Biol,2001
4. Molecular mapping of 21 features associated with partial monosomy 21: Involvement of the APP-SOD1 region;Chettouh;Am J Hum Genet,1995
5. Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome;Chrast;Hum Mol Genet,2000
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1. A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay;European Journal of Medical Genetics;2022-04
2. Discovery of novel 6-hydroxybenzothiazole urea derivatives as dual Dyrk1A/α-synuclein aggregation inhibitors with neuroprotective effects;European Journal of Medicinal Chemistry;2022-01
3. Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome;PLOS Genetics;2021-09-29
4. Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome;2021-05-01
5. Ocular Phenotype Associated with DYRK1A Variants;Genes;2021-02-05
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