Fragile x syndrome [NEW TOPIC PAGE]

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Last Posted: Jul 13, 2018

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• CDC Disease of the Week: Fragile X Syndrome 
• Fragile X testing as a second-tier test.  
  Hartley Taila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(12)
• Parents' initial concerns about the development of their children later diagnosed with fragile X syndrome.  
  Zhang Dajie et al. Journal of intellectual & developmental disability 2017 42(2) 114-122
• Should we implement population screening for fragile X?  
  Dimmock David P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(12) 1295-1299
• FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.  
  Rajan-Babu Indhu-Shree et al. Expert reviews in molecular medicine 2017 Jul 19e10
• Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.  
  Lubala Toni Kasole et al. Molecular genetics & genomic medicine 2018 Apr
• Fragile X Syndrome Therapy Granted Orphan Drug Designation  
  M Shanley, RareDR, Apr 3, 2018
• FMR1 premutation frequency in a large, ethnically diverse population referred for carrier testing.  
  Owens Kailey M et al. American journal of medical genetics. Part A 2018 Mar
• Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach.  
  Fernandez Bridget A et al. Dialogues in clinical neuroscience 2017 Dec 19(4) 353-371
• [Introduction to Genetic/Rare Disease and the Application of Genetic Counseling].  
  Chu Shao-Yin et al. Hu li za zhi The journal of nursing 2017 Oct 64(5) 11-17

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