Reflections on a Prenatal Diagnosis of Trisomy 21 Syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "JAMA pediatrics"
DOI: 10.1001/jamapediatrics.2016.2810
Abstract: I was 36 years old and 14 weeks pregnant with our second child. I picked up my telephone just prior to the start of a Thursday afternoon clinic. It was a nurse from the obstetrics… read more here.
Keywords: trisomy; trisomy syndrome; diagnosis; year old ... See more keywords
Trisomy of a Down Syndrome Critical Region Globally Amplifies Transcription via HMGN1 Overexpression
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DOI: 10.1016/j.celrep.2018.10.061
Abstract: SUMMARY Down syndrome (DS, trisomy 21) is associated with developmental abnormalities and increased leukemia risk. To reconcile chromatin alterations with transcriptome changes, we performed paired exogenous spike-in normalized RNA and chromatin immunoprecipitation sequencing in DS… read more here.
Keywords: syndrome critical; overexpression; trisomy syndrome; hmgn1 ... See more keywords