Fragile X syndrome

KB Garber, J Visootsak, ST Warren - European journal of human …, 2008 - nature.com
… The resulting over abundance of certain proteins results in reduced synaptic strength due
to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype. …

Fragile X syndrome

RJ Hagerman, E Berry-Kravis, HC Hazlett… - Nature reviews Disease …, 2017 - nature.com
Fragile X syndrome (FXS) is caused by the deficiency or absence of fragile X mental
retardation 1 protein (FMRP; also known as synaptic functional regulator FMR1), an RNA binding …

Fragile X syndrome

W Saldarriaga, F Tassone, LY González-Teshima… - Colombia …, 2014 - scielo.org.co
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named
full mutation (greater than 200 CGG repeats), in the FMR1 gene locus Xq27.3; which leads …

Fragile x syndrome

Y McLennan, J Polussa, F Tassone… - Current …, 2011 - ingentaconnect.com
Recent data from a national survey highlighted a significant difference in obesity rates in
young fragile X males (31%) compared to age matched controls (18%). Fragile X syndrome (…

Advances in the treatment of fragile X syndrome

RJ Hagerman, E Berry-Kravis, WE Kaufmann… - …, 2009 - publications.aap.org
… and the fragile X-associated tremor/ataxia syndrome, in some … in animal models of fragile
X syndrome have demonstrated … with individuals with fragile X syndrome. Targeted treatments…

The fragile X syndrome.

BB De Vries, DJ Halley, BA Oostra… - Journal of medical …, 1998 - jmg.bmj.com
… This rapid detection method allows the diagnosis of fragile X syndrome from a blood
smear; cells from fragile X males with a methylated full mutation produce no FMRP.'26 The …

The pathophysiology of fragile x syndrome

O Penagarikano, JG Mulle… - Annu. Rev. Genomics …, 2007 - annualreviews.org
… have fragile X syndrome. Consequently, the descriptors Martin-Bell syndrome or marker
X syndrome have now been largely superseded by the designation fragile X syndrome (FXS). …

Understanding the molecular basis of fragile X syndrome

P Jin, ST Warren - Human molecular genetics, 2000 - academic.oup.com
Fragile X syndrome, a common form of inherited mental retardation, is mainly caused by …
region of the fragile X mental retardation-1 (FMR1) gene. In patients with fragile X syndrome, the …

Prevalence of fragile X syndrome

G Turner, T Webb, S Wake… - American journal of …, 1996 - Wiley Online Library
The much‐quoted prevalence figure of 1:1,000 males for fragile X syndrome is an overestimate
in a mixed ethnic population. A reexamination of the individuals from whom those data …

A decade of molecular studies of fragile X syndrome

WT O'Donnell, ST Warren - Annual review of neuroscience, 2002 - annualreviews.org
Fragile X syndrome is one of the most common forms of … silencing of the fragile X mental
retardation 1(FMR1) gene that … to the loss of protein product fragile Xmental retardation protein (…