Results 221 to 230 of about 40,130 (258)
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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 ...
A E, Cronister, R J, Hagerman
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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 ...
A E, Cronister, R J, Hagerman
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Pediatrics, 2009
Despite earlier awareness of the need for pediatricians to recognize and diagnose developmental delay, the average age at diagnosis of fragile X syndrome (FXS) according to a study by Bailey et al,1 published in this issue of Pediatrics , has remained unchanged at 35 to 37 months of age.
Eriel Wallace, Hayes, Reuben, Matalon
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Despite earlier awareness of the need for pediatricians to recognize and diagnose developmental delay, the average age at diagnosis of fragile X syndrome (FXS) according to a study by Bailey et al,1 published in this issue of Pediatrics , has remained unchanged at 35 to 37 months of age.
Eriel Wallace, Hayes, Reuben, Matalon
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Seminars in Neurology, 2014
Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions.
Elizabeth Berry-Kravis, Timothy Yu
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Autistic spectrum disorders (ASDs) are characterized by impairments in language, social skills, and repetitive behaviors, often accompanied by intellectual disability. Advances in the genetics of ASDs are providing new glimpses into the underlying neurobiological mechanisms disrupted in these conditions.
Elizabeth Berry-Kravis, Timothy Yu
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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.
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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.
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Hyperactivity and the Fragile X Syndrome
Journal of Abnormal Child Psychology, 1991Workers who have claimed an association between Fragile X [fra(x)] Syndrome and Hyperactivity and aggressive behavior have done so despite the lack of controlled studies using standard diagnostic criteria. Accordingly, we provided a controlled test of the hypothesis that individuals with the fra(x) Syndrome are more hyperactive and have more symptoms ...
Einfeld, Stewart +2 more
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Prevalence of fragile X syndrome
American Journal of Medical Genetics Part A, 1996The 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 were derived using molecular diagnostic techniques demonstrates a more realistic figure of 1:4,000 males.
G, Turner, T, Webb, S, Wake, H, Robinson
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Advances in Pediatrics, 1994
1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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1. Fragile X syndrome is defined by the combination of a characteristic phenotype, cognitive impairment, the presence of a fragile site (gap) detectable in folate-free culture medium on Xq27.3 called FRA X A, and transcriptional inhibition, through overmethylation, of an mRNA protein-binding gene called FMR-1. 2. It is inherited in an atypical X-linked
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The Pathophysiology of Fragile X Syndrome
Annual Review of Genomics and Human Genetics, 2007Fragile X syndrome is the most common form of inherited mental retardation. The disorder is mainly caused by the expansion of the trinucleotide sequence CGG located in the 5′ UTR of the FMR1 gene on the X chromosome. The abnormal expansion of this triplet leads to hypermethylation and consequent silencing of the FMR1 gene.
Olga, Penagarikano +2 more
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Autism and the fragile X syndrome
American Journal of Psychiatry, 1986The fragile X chromosome is an important factor in inherited mental retardation in males. It has also been reported that infantile autism is associated with fragile X. Recently, an article reported an examination of a small sample of autistic children in whom the fragile X chromosome was not found.
G S, Fisch +5 more
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome
2018Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
Deborah A, Hall, Elizabeth, Berry-Kravis
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