Fragile x syndrome UPDATE: July 20-28, 2016 :: Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



July 20-28, 2016 

FRAGILE X SYNDROME

Last Updated: Jul 20, 2016

• 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 
• ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
  Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22.
• [SNP array and cytogenetic analysis of a patient with unexplained mental retardation].
  Bai Nan, et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2016 6 (3) 332-4
• Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype.
  Limprasert Pornprot, et al. Genetics research international 2016 0 8319287
• Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil.
  Viveiros M T M et al. Genetics and molecular research : GMR 2015 14(2) 6897-905
• Survey of medical genetic services in Italy: year 2011.
  Giardino Daniela et al. BMC health services research 2016 16(1) 96
• Family Communication and Cascade Testing for Fragile X Syndrome.
  Raspa Melissa et al. Journal of genetic counseling 2016 Mar
• Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
  Cotter Megan et al. American journal of medical genetics. Part A 2016 Feb
• "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.
  Archibald Alison D et al. Journal of community genetics 2016 Feb
• The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
  Wenger Tara L, et al. Scientific reports 2016 0 19372
• Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1.
  Lim Grace X Y et al. The Journal of molecular diagnostics : JMD 2015 May 17(3) 302-14
• Low Levels of HDL in Fragile X Syndrome Patients.
  Lisik Ma?gorzata Z, et al. Lipids 2015 12
• Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.
  Chandrasekara C H W M R Bhagya et al. PloS one 2015 10(12) e0145537
• Molecular analysis of patients suspected of Fragile X Syndrome.
  Amancio A P et al. Genetics and molecular research : GMR 2015 14(4) 14660-9

• CDC Information (6)
• CDC-Authored Pub (2)

• Human (3)
• Pathogen (0)

• Human (130)
• Pathogen (0)

• Human (26)
• Pathogen (0)

• Guidelines (2)
• Tier Table (0)
• Synthesis (2)

• Huamn (1)
• Pathogen (0)

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