American Journal of medical genetics

Type: Educational Resources
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Description

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American Journal of Medical Genetics Special Issue

Proceedings of the Turner Syndrome Resource Network Symposium

Guest Editors: Paul Kruszka and Michael Silberbach

Introduction

The state of Turner syndrome science; Are we on the threshold of discovery?

Research Articles

  • The Turner syndrome research registry: Creating equipoise between investigators and participants
  • Research priorities of people living with Turner syndrome
  • How do genes that escape from X-chromosome inactivation contribute to TS?
  • The genetic basis of TS aortopathy

Research Reviews

  • “Donating our bodies to science”: A discussion about autopsy and organ donation in TS
  • TS: New insights from prenatal genomics and transcriptomics
  • How can we make pregnancy safe for women with TS?
  • Clinical developmental, neuropsychological, and social-emotional features of TS
  • The deep biology of cognition: Moving toward a comprehensive neurodevelopmental model of TS
  • Cardiometabolic health in TS
  • Clinical update on sensorineural hearing loss in TS and the X-chromosome
  • Growth and growth hormone in TS: Looking back, looking ahead
  • Sex hormone replacement therapy for individuals with TS
  • The impact of somatic mosaicism on bicuspid aortic valve and aortic dissection in TS
  • A hypothesis: Could telomere length and/or epigenetic alterations contribute to infertility in females with TS?
  • Epigenetics and genomics in TS
  • The mouse as a model of fundamental concepts related to TS

Commentary

Conference summary: What we have learned and where we are headed