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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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Current Opinion in Pediatrics, 1989
Males who possess the fragile X chromosome, a marker on the end of the X chromosome at position Xq27.3, have a distinct form of mental retardation, which has come to be known as the fragile X [fra(X)] syndrome. This X-linked syndrome is the most common Mendelian form of mental retardation.
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Males who possess the fragile X chromosome, a marker on the end of the X chromosome at position Xq27.3, have a distinct form of mental retardation, which has come to be known as the fragile X [fra(X)] syndrome. This X-linked syndrome is the most common Mendelian form of mental retardation.
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Pathology, 1983
Publisher Summary The fragile X chromosome is associated with a common form of X-linked mental retardation in males and possibly females. The fragile X is so called because it has a fragile site at the distal end of the long arm. Fragile sites are morphological features of chromosomes defined as specific points liable to show some specific features ...
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Publisher Summary The fragile X chromosome is associated with a common form of X-linked mental retardation in males and possibly females. The fragile X is so called because it has a fragile site at the distal end of the long arm. Fragile sites are morphological features of chromosomes defined as specific points liable to show some specific features ...
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Journal of Inherited Metabolic Disease, 1997
AbstractThe fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated.
Hoogeveen, Andre, Oostra, Ben
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AbstractThe fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5′ untranslated region of the FMR1 gene and is the most common form of inherited mental retardation. When the repeat is amplified beyond 200 repeat units, the repeat and the FMR1 promoter region are methylated.
Hoogeveen, Andre, Oostra, Ben
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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
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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
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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.
H Z, Ho, T J, Glahn, J C, Ho
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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.
H Z, Ho, T J, Glahn, J C, Ho
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[Fragile X chromosomes and fragile X syndrome].
Ugeskrift for laeger, 2006A case story is presented of a child diagnosed by chromosome analysis to be carrier of the fragile X chromosome at a low frequency in cultured lymphocytes. DNA analysis of the FMR1 gene at a later date did not reveal expansion of the FMR1 repeat, thereby refuting the diagnosis of fragile X syndrome.
Susanne Eriksen, Boonen +2 more
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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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