Fragile x syndrome | Updates on Specific Diseases

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Last Posted: Jul 13, 2017

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• Fragile X Syndrome
  Test your knowledge with CDC Disease of the Week
• Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.  
  Metcalfe Sylvia A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
• Systematic design and comparison of expanded carrier screening panels.  
  Beauchamp Kyle A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
• Advancing Treatment and Care for Fragile X Syndrome 
• Summary of Pediatrics Supplement 
• The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary  
  C Riley et al, Pediatrics, June 2017
• Do the data really support ordering fragile X testing as a first-tier test without clinical features?  
  Weinstein Veronique et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May
• Parental Perspectives on Pharmacological Clinical Trials: a Qualitative Study in Down Syndrome and Fragile X Syndrome.  
  Reines Victoria et al. Journal of genetic counseling 2017 May
• Identification of fragile X pre-mutation carriers in the Chinese obstetric population using a robust FMR1 polymerase chain reaction assay: implications for screening and prenatal diagnosis.  
  Cheng Y Ky et al. Hong Kong medical journal = Xianggang yi xue za zhi 2017 Mar
• A 15-year-long Southern blotting analysis of FMR1 to detect female carriers and for prenatal diagnosis of fragile X syndrome in Taiwan.  
  Tzeng Ching-Cherng et al. Clinical genetics 2017 Jan
• Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.  
  Muthuswamy Srinivasan et al. Neurology India 64(6) 1175-1179
• A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.  
  Alfaro Arenas Ramona et al. Journal of genetic counseling 2016 Oct
• Importance of a specialty clinic for individuals with fragile X syndrome.  
  Visootsak Jeannie et al. American journal of medical genetics. Part A 2016 Sep
• Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.  
  Wilson R Douglas et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obste´trique et gyne´cologie du Canada : JOGC 2016 Aug 38(8) 742-762.e3
• The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.  
  Grigsby Jim et al. The Clinical neuropsychologist 2016 Aug 30(6) 815-33
• CDC and AAP Bust Fragile X Myths 

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