Down syndrome and the complexity of genome dosage imbalance. External Web Site Icon Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar 18(3) 147-163

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From From Genomics & Health Impact Scan Database

This database includes published scientific literature on evidence-based translation of genomic discoveries into improved health care and disease prevention that have a potential impact on population health.

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• Down syndrome and the complexity of genome dosage imbalance.  
  Antonarakis Stylianos E et al. Nature reviews. Genetics 2017 Mar 18(3) 147-163
• Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing.  
  Xu Chenming et al. Clinical chemistry 2017 Feb
• Noninvasive prenatal testing: more caution in counseling is needed in high risk pregnancies with ultrasound abnormalities.  
  Oneda Beatrice et al. European journal of obstetrics, gynecology, and reproductive biology 2016 May 20072-5
• Clinical experience from Thailand: noninvasive prenatal testing as screening tests for trisomies 21, 18 and 13 in 4736 pregnancies.  
  Manotaya S et al. Prenatal diagnosis 2016 Mar 36(3) 224-31
• Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.  
  Jain Chandni V et al. Science translational medicine 2016 Nov 8(363) 363re4

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