Results 161 to 170 of about 3,802 (188)
Some of the next articles are maybe not open access.
Autistic Spectrum Disorder and the Fragile X Premutation
Journal of Developmental & Behavioral Pediatrics, 2004Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD.
Beth L, Goodlin-Jones +3 more
openaire +2 more sources
Fragile X syndrome: of POF and premutations
Journal of Medical Genetics, 1999Editor—We read with great interest the article by our colleagues de Vries et al 1on fragile X syndrome, which is generally informative and for the most part accurate. We do, however, take issue with two points raised in the article which should be clarified or corrected.
JAMES MACPHERSON +3 more
openaire +1 more source
Fragile X gene premutation in multiple system atrophy
Journal of the Neurological Sciences, 2004Previous reports have suggested that expansion of the CGG repeat located in the fragile X mental retardation 1 (FMR1) gene might be responsible for a significant number of patients with the multiple system atrophy (MSA) phenotype. Analysis of 65 MSA patients found only 4.6% displayed CGG expansions in the suspected range.
E M, Garland +5 more
openaire +2 more sources
A girl with fragile X premutation from sperm donation
American Journal of Medical Genetics Part A, 2008AbstractWe present a girl with the fragile X premutation who obtained the premutation allele from donated sperm. Our patient has clinical characteristics of fragile X syndrome including emotional problems and neuropsychological difficulties presenting as learning disabilities.
Juthamas, Wirojanan +4 more
openaire +2 more sources
FXTAS: A progressive neurologic syndrome associated with fragile X premutation
Current Neurology and Neuroscience Reports, 2005The FMR1 gene is involved in two different syndromes: Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fragile X syndrome is a childhood disease and is associated with mental retardation as the main clinical characteristic, whereas FXTAS develops in men and women over 50 years of age.
Willemsen, Rob +2 more
openaire +3 more sources
Assessing Fragile X Premutation Carriers' Knowledge of the Premutation Phenotype
2009Fragile X syndrome (FXS) is the most common form of inherited cognitive impairment and a known genetic cause of autism. Initially, carriers of the FXS premutation were thought to only be at risk for having a child or grandchild with FXS. However, it has been found that premutation carriers are at risk for conditions not seen in carriers of the full ...
openaire +1 more source
The Fragile X premutation: new insights and clinical consequences
European Journal of Medical Genetics, 2006The Fragile X syndrome (FXS, MIM 309550) is still the most prevalent cause of heritable mental retardation, with a frequency of 1/4000 males and 1/6000 females. The syndrome and its particular pattern of heredity are caused by a dynamic mutation, involving an unstable expansion of a trinucleotide (CGG) repeat at the 5' UTR of the FMR1 gene, located at ...
openaire +2 more sources
Mouse Models for FXTAS and the Fragile X Premutation
2016The use of model organisms is essential in order to understand the pathogenesis of many types of human disease, and this is particularly true for the study of genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). In reverse genetics, the functional study of a gene starts with the question of how a possible
Molly M. Foote +5 more
openaire +1 more source