Congenital heart disease [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Jul 01, 2020

---

• Genomic analyses implicate noncoding de novo variants in congenital heart disease
  F Richter et al, Nature Genetics, June 29, 2020
• [Noonan syndrome: genetic and clinical update and treatment options].
  Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May
• COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
  Mone F et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 May
• Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis.
  Qiu Xiuqing et al. Scientific reports 2020 May 10(1) 7564
• The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.
  Asoglu Mehmet Resit et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Apr 1-7
• The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
  Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
• For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
  A Joseph, Stat News, March 23, 2020
• [Clinical practice guidelines for Noonan syndrome].
  Writing Group For Practice Guidelines For Diagnosis And Treatment Of Genetic Diseases Medical Genetics Branch Of Chinese Medical Association et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 Mar 37(3) 324-328
• Down syndrome.
  Antonarakis Stylianos E et al. Nature reviews. Disease primers 2020 Feb (1) 9
• Genetic considerations for adults with congenital heart disease.
  Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb

more