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Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders.
Mol Cytogenet. 2012 Apr 5;5:17. doi: 10.1186/1755-8166-5-17.
Mol Cytogenet. 2012.
PMID: 22480366
Free PMC article.
Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital anomalies, and dysmorphic features. We used array comparative genomic hybridization in a South Carolina Autism Project (SCAP) cohort of …
Interstitial deletions of the short arm of chromosome 6 are rare and have been associated with developmental delay, hypotonia, congenital …
An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities.
Bremer A, Schoumans J, Nordenskjöld M, Anderlid BM, Giacobini M.
Bremer A, et al.
Eur J Med Genet. 2009 Sep-Oct;52(5):358-62. doi: 10.1016/j.ejmg.2009.06.002. Epub 2009 Jul 1.
Eur J Med Genet. 2009.
PMID: 19576304
The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, short neck, craniofacial malformations, hypotonia, as well as clinodactyly or syndactyly. ...Twelve genes are mapped to the overlapping deleted …
The clinical phenotype of these cases includes developmental delay, brain-, heart-, and kidney defects, eye abnormalities, sho …
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Fetal Hypoxia Impacts on Proliferation and Differentiation of Sca-1+ Cardiac Progenitor Cells and Maturation of Cardiomyocytes: A Role of MicroRNA-210.
Meng X, Zhang P, Zhang L.
Meng X, et al.
Genes (Basel). 2020 Mar 20;11(3):328. doi: 10.3390/genes11030328.
Genes (Basel). 2020.
PMID: 32244901
Free PMC article.
Hypoxia is one of the most frequent and severe stresses to an organism's homeostatic mechanisms, and hypoxia during gestation has profound adverse effects on the heart development increasing the occurrence of congenital heart defects (CHDs). Cardiac pr …
Hypoxia is one of the most frequent and severe stresses to an organism's homeostatic mechanisms, and hypoxia during gestation has profound a …
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Maternal diabetes and high glucose in vitro trigger Sca1+ cardiac progenitor cell apoptosis through FoxO3a.
Yang P, Yang WW, Chen X, Kaushal S, Dong D, Shen WB.
Yang P, et al.
Biochem Biophys Res Commun. 2017 Jan 22;482(4):575-581. doi: 10.1016/j.bbrc.2016.11.076. Epub 2016 Nov 14.
Biochem Biophys Res Commun. 2017.
PMID: 27856257
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