Down syndrome ▲ Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

DOWN SYNDROME

Last Updated: Oct 05, 2016

• Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.
  Jaiswal S K, et al. European journal of clinical nutrition 2016 9
• What is Down Syndrome? 
• Risk factors for Down syndrome.
  Coppedè Fabio et al. Archives of toxicology 2016 Sep
• Is maternal plasma DNA testing impacting serum-based screening for aneuploidy in the United States?
  Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Nov 17(11) 897-900
• Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.
  Lewis Celine et al. PloS one 2016 11(4) e0153147
• Growth Charts for Children with Down Syndrome 
• Prevention and Periodontal Treatment in Down Syndrome Patients: A Systematic Review.
  Ferreira Rafael et al. PloS one 2016 11(6) e0158339
• Stakeholder Buy-In and Physician Education Improve Adherence to Guidelines for Down Syndrome.
  Santoro Stephanie L et al. The Journal of pediatrics 2016 Apr 171262-8.e1-2
• Scientists Have Pinpointed the Gene Responsible for Down Syndrome
  Futurism, August 11, 2016
• Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
  Barrett Angela Natalie et al. Singapore medical journal 2016 Jun
• Proteolytic Cleavage of Apolipoprotein E in the Down Syndrome Brain.
  Day Ryan J, et al. Aging and disease 2016 5 (3) 267-77
• Perceptions and Discourses Relating to Genetic Testing: Interviews with People with Down Syndrome.
  Barter Barbara et al. Journal of applied research in intellectual disabilities : JARID 2016 May
• Practice Bulletin No. 162 Summary: Prenatal Diagnostic Testing for Genetic Disorders.
  et al. Obstetrics and gynecology 2016 May 127(5) 976-8
• Live births, natural losses, and elective terminations with Down syndrome in Massachusetts
  De Graf G, et al. Genetics in Medicine (2016) April 14
• Difficult Decisions: Prenatal genetic testing spurs laws to provide information during pregnancy on Down syndrome 
  A Caplan, Genome Magazine, Spring 2016

• CDC Information (7)
• CDC-Authored Pub (5)

• Human (8)
• Pathogen (0)

• Human (168)
• Pathogen (0)

• Human (58)
• Pathogen (0)

• Guidelines (1)
• Tier Table (0)
• Synthesis (8)

• Huamn (5)
• Pathogen (0)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB