Synonyms Escalante's syndrome ; Fragile X syndrome ; Gender-linked mental retardation with macroorchidism ; Marker X syndrome ; Martin-Bell syndrome Short Description or Definition Fragile X-associated disorders like fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and...
Brain samples from humans show that the treatment window for Fragile X syndrome likely remains open well into maturity after childhood, when previous tests with mice indicated it might close. This new information could become valuable as therapeutic treatments for Fragile X syndrome - the most common...
3 ⅐ No. 5 review FMR1 and the fragile X syndrome: Human genome epidemiology review Dana C. Crawford, PhD1,2, Juan M. Acun˜a, MD3,4, and Stephanie L. Sherman, PhD5 The fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is one of the most common forms...
and Biochemistry, Rush University Medical Center, Chicago, IL, USA; 3Department of Neurology, Emory University School of Medicine, Atlanta, GA, USA Fragile X syndrome (FXS) is an inherited neurodevelopmental disease caused by loss of function of the fragile X mental retardation protein (FMRP). ...
Synonyms Escalante's syndrome ; Fragile X syndrome ; Gender-linked mental retardation with macroorchidism ; Marker X syndrome ; Martin-Bell syndrome Short Description or Definition Fragile X-associated disorders like fragile X syndrome (FXS), fragile X-associated tremor/ataxia syndrome (FXTAS), and...
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, ‘premutation’ expansions (55 to 200 repeats) are now gaining increasing recognit
of children with fragile X syndrome were contacted through the Fragile X Society, the national family support group for people affected by fragile X syndrome in the UK, and they volunteered to take part in a larger longitudinal study on the development of attention in fragile X syndrome. Thirtee...
This is the first description of preventive care services specifically received by children and young adults with fragile X syndrome (FXS). We compare these rates to those of other pediatric populations and identify care disparities within our cohort. Objective Describe the frequency of preventive care...
DESCRIPTION OF THE FIGURES FIG. 1A-FIG. 1D show the results from sulindac in vivo testing. DETAILED DESCRIPTION As fragile x is a syndrome, there are a number of different manifestations and symptoms in patients (or “subjects”). These include; intellectual impairment, such as difficulties with...
Altered auditory processing in a mouse model of fragile X syndrome This study provides the first description of auditory cortical processing in a mouse model of Fragile X Syndrome (FXS). \\{FXS\\} is a genetic cause of int... Rotschafer,S.,Razak,... - 《Brain Research》 被引量: 73发...