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The Fragile‐X Syndrome

Developmental Medicine & Child Neurology, 1988
SUMMARYThe variability in behavioral manifestations of the fragile‐x syndrome and the lack of a well‐defined psychological profile require the attention of behavioral geneticists and other behavioral scientists. The association with autism suggests that the fra(x) may be responsible for a genetic subtype of autism.
Ju-Chang Ho, Hsiu-Zu Ho, T. J. Glahn
openaire   +3 more sources

The fragile X in cattle

American Journal of Medical Genetics, 1986
AbstractIn search of an animal model for the human fragile X syndrome, the chromosomes of Holstein cows were examined. This breed was chosen because of previous studies on the baldy calf syndrome. An achromatic gap was observed at a specific site on the X chromosome closer to the centromere than that identified in humans.
Irene A. Uchida   +4 more
openaire   +3 more sources

Fragile X and reproduction

Current Opinion in Obstetrics & Gynecology, 2008
To review the recent literature on fragile X and the genotypic and phenotypic implications on human reproduction.Fragile X syndrome is the most common inherited cause of mental retardation and the most common genetic cause of autism. The fully expanded form of the mutation leads to mental retardation and autism, whereas the premutation can lead to a ...
J. Ryan Martin, Aydin Arici
openaire   +3 more sources

Fragile X syndrome

Journal of Pediatric Health Care, 1989
Fragile X syndrome is one of the most intriguing genetic conditions now being studied. As the most common inherited form of mental retardation, it has an incidence of approximately 1 in 1000 male infants and boys. Because the cytogenetic diagnosis has only recently been available, many affected boys and female carriers have not yet been identified ...
Randi J Hagerman, Amy Cronister
openaire   +2 more sources

Fragile X syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2005
AbstractFragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess
Giovanni Neri   +2 more
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The fragile X syndromes

Seminars in Cell Biology, 1995
Fragile X syndrome is a leading cause of mental retardation worldwide, with an incidence of approximately one case in 2000 live births. It is amongst the most common of human genetic diseases, and was the first to be associated with an unstable trinucleotide (CGG) repeat sequence.
openaire   +3 more sources

Fragile X syndrome, the Fragile X related proteins, and animal models

Microscopy Research and Technique, 2002
AbstractThe Fragile X syndrome (FraX), which is characterized among other physical and neurologic impairments by mental retardation, is caused by the absence of the product of the FMR1 gene. The Fragile X Mental Retardation Protein (FMRP) is a member of a novel family of RNA‐binding proteins.
André T. Hoogeveen   +2 more
openaire   +3 more sources

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

Cell, 1991
A. Verkerk   +20 more
semanticscholar   +1 more source

Fragile X syndrome: An overview and update of the FMR1 gene

Clinical Genetics, 2018
M. Milá   +3 more
semanticscholar   +1 more source

Metformin ameliorates core deficits in a mouse model of fragile X syndrome

Nature Network Boston, 2017
I. Gantois   +20 more
semanticscholar   +1 more source

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