Results 211 to 220 of about 40,130 (258)
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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 Neurology, 1997
The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably
L, Chakrabarti, K E, Davies
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The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably
L, Chakrabarti, K E, Davies
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Nature Reviews Disease Primers, 2017
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures.
Hagerman, Randi +10 more
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Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures.
Hagerman, Randi +10 more
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The Indian Journal of Pediatrics, 1998
Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the ...
J P, Phillips, G A, Wilson
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Fragile X syndrome is the most common familial form of mental retardation. This X-linked disorder affects one in every 1000 males and one in every 2000 females. The female carrier rate in the general population is estimated to be 1/600. A fragile site at the distal long arm of the X chromosome (Xq 27.3) is the hallmark cytogenetic feature of the ...
J P, Phillips, G A, Wilson
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Current Biology, 2002
Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
Paul J, Hagerman, Randi, Hagerman
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Paul Hagerman and Randi Hagerman introduce the X-linked neurodevelopmental disorder Fragile X syndrome (FXS) and discuss what causes this disorder and how it can be treated.
Paul J, Hagerman, Randi, Hagerman
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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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Neonatal Network, 1999
Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family planning, and questions ...
J L, Welch, J K, Williams
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Fragile X syndrome is the most common inherited condition causing mental retardation in males. Females with the full mutation expansion can have milder signs of the disorder. Families with members who have been diagnosed with fragile X syndrome face concerns about the health of their newborn infant, decisions regarding family planning, and questions ...
J L, Welch, J K, Williams
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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
Alessandra, Terracciano +2 more
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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
Alessandra, Terracciano +2 more
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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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