ACTUALIZACIÓN MÉDICO-CONTINUADA EN SÍNDROME FRÁGIL X ► Genomics|Features|Fragile X Syndrome [idioma inglés únicamente]

Genomics|Features|Fragile X Syndrome

Fragile X Syndrome

Fragile X Syndrome: Recent Insights - July 22, 2015

CDC Info

• Fragile X syndrome: scientific background and screening technologies.Lyons JI et al. J Mol Diagn 2015 Jul 7.
• It's a family thing: Ruth's story
• Fragile X Syndrome (FXS)
• Public Health Research on Fragile X Syndrome
• Key Findings: Prevalence of Fragile X Premutation Prevalence of CGG Expansions of the FMR1 Gene in a US Population-Based Sample
• Key Findings: A comparison of family, financial, and employment impacts of fragile X syndrome, autism, and intellectual disability

CDC information: It's a family thing: Ruth's story

Fragile X syndrome: Scientific background and screening technologies.
Lyons JI et al. J Mol Diagn 2015 Jul 7.

Genetic testing for developmental disabilities, intellectual disability, and autism spectrum disorder
Rockville (MD):Agency for Healthcare Research and Quality (US) 2015 Jun

Therapeutic strategies in fragile X syndrome: From bench to bedside and back.
Gross C et al. Neurotherapeutics 2015 Jul (3) 584-608

Emerging pharmacologic treatment options for fragile X syndrome.
Schaefer TL et al. Appl Clin Genet 2015 75-93

Fragile X premutation carriers: A systematic review of neuroimaging findings.
Brown SS et al. J. Neurol. Sci. 2015 May 15. (1-2) 19-28

Autism spectrum disorder (ASD) and fragile X syndrome (FXS): Two overlapping disorders reviewed through electroencephalography-what can be interpreted from the available information?
Devitt NM et al. Brain Sci 2015 (2) 92-117

Socio-economic burden of rare diseases: A systematic review of cost of illness evidence.
Angelis A et al. Health Policy 2015 Jul (7) 964-979

Treatment of the psychiatric problems associated with fragile X syndrome.
Hagerman RJ et al. Curr Opin Psychiatry 2015 Mar (2) 107-12

Uncovering the evidence for behavioral interventions with individuals with fragile X syndrome: a systematic review.
Moskowitz LJ et al. Res Dev Disabil 2015 Mar 223-41

Cholesterol levels in fragile X syndrome.
Berry-Kravis E et al. Am. J. Med. Genet. A 2015 Feb (2) 379-84

Fragile X syndrome: a review of associated medical problems.
Kidd SA et al. Pediatrics 2014 Nov (5) 995-1005

Fragile X Syndrome: Genomics & Public Health - October 22, 2014

Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability

CDC information: Public health research on Fragile X syndrome

CDC finding: Prevalence of fragile X premutation prevalence of CGG expansions of the FMR1 gene in a US population-based sample

CDC finding: A comparison of family, financial, and employment impacts of fragile X syndrome, autism, and intellectual disability

A comparison of family financial and employment impacts of fragile X syndrome, autism spectrum disorders, and intellectual disability.
Ouyang L, et al. Res Dev Disabil. 2014 Jul;35(7):1518-27.

About fragile X syndrome, from the National Human Genome Research Institute

Learn about tests related to Fragile X syndrome, from the NIH Genetic Testing Registry