CONGENITAL HEART DEFECTS AND GENOMICS || Current|Update|Genomics|CDC

Current|Update|Genomics|CDC

CONGENITAL HEART DEFECTS AND GENOMICS

Search Result Summary

CDC Resources

• CDC Web Information (6)
• CDC-Authored Genomics Publications (3)

Discoveries and Insights

• Hot Topics (4)
• Genomics & Health Impact Weekly Scan (0)
AMD Weekly Clips (0)

Epidemiology

• Human Genome Epidemiology (133)
• AMD Clips (0)

Translational Research

• Genomics & Health Impact Scan (5)
• AMD Weekly Clips (0)

Evidence Synthesis

• Guidelines (0)
• Evidence Classification (0)
• Genomics & Health Impact Scan (0)

Practice and Implementation

• Implementation (9)
• Genomics & Health Impact Scan (1)

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

What's New

Last Updated: Feb 09, 2016

• What Are Congenital Heart Defects?
  National Heart, Lung and Blood Institute (From Discoveries and Insights Database)
• People with congenital heart defects (CHD) are now living longer, healthier lives. 
  (From CDC Information Database)
• Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
  Chung Ill-Min et al. Genes 2016 (2) (From Discoveries and Insights Database)
• Understanding Genetics and Pediatric Cardiac Health.
  Butler Mary R et al. Journal of pediatric nursing (1) 3-10 (From Discoveries and Insights Database)
• Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
  Yaoita Masako, et al. Human genetics 2015 12 (From HuGE Literature Finder)
• Sleep disturbance in Mowat-Wilson syndrome.
  Evans Elizabeth, et al. American journal of medical genetics. Part A 2015 12 (From HuGE Literature Finder)
• Newborn Screening (North Carolina)
  Disease: NA; Type: Program|General Information; State: North Carolina (From Implementation Database)
• Newborn Screening Tests (New Jersey)
  Disease: NA; Type: Program; State: New Jersey (From Implementation Database)
• Newborn Screening Program 
  Disease: NA; Type: Program; State: New Hampshire (From Implementation Database)
• Genetic Disease & Early Childhood
  Disease: Birth defects; Type: Program; State: Missouri (From Implementation Database)
• Newborn Screening (Texas)
  Disease: NA; Type: Program|General Information; State: Texas (From Implementation Database)
• Genome-wide rare copy number variations contribute to genetic risk for transposition of the great arteries.
  Costain Gregory, et al. International journal of cardiology 2015 11 115-121 (From HuGE Literature Finder)
• Association of GDF1 rs4808863 with fetal congenital heart defects: a case-control study.
  Zhang Juan, et al. BMJ open 2015 0 (12) e009352 (From HuGE Literature Finder)
• Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB] 
  Disease: Multiple Diseases; Type: Tools|Program; State: Illinois (From Implementation Database)
• Newborn Screening (Arizona)
  Disease: NA; Type: Program; State: Arizona (From Implementation Database)
• Newborn screening (Colorado)
  Disease: NA; Type: Program; State: Colorado (From Implementation Database)
• Too Young to Die: Impact of Sudden Cardiac Death of the Young in Michigan, 1999 - 2008[PDF 1.42 MB]
  Disease: Sudden Cardiac Death; Type: Data|Program; State: Michigan (From Implementation Database)
• The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I).
  Hernández-Porras Isabel, et al. Rare diseases (Austin, Tex.) 2015 0 (1) e1045169 (From HuGE Literature Finder)
• MTHFD1 formyltetrahydrofolate synthetase deficiency, a model for the MTHFD1 R653Q variant, leads to congenital heart defects in mice.
  Christensen Karen E, et al. Birth defects research. Part A, Clinical and molecular teratology 2015 9 (From HuGE Literature Finder)
• [Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia].
  Qi Yan-Hua, et al. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2015 9 (9) 965-70 (From HuGE Literature Finder)