Results 211 to 220 of about 91,816 (261)
Some of the next articles are maybe not open access.
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +4 more sources
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
openaire +4 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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 +3 more
openaire +2 more sources
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 +3 more
openaire +2 more sources
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.
openaire +2 more sources
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.
openaire +2 more sources
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 ...
openaire +2 more sources
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 ...
openaire +2 more sources
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 +2 more sources
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 +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
American Journal of Medical Genetics, 1991
AbstractA 13‐item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results.
R J, Hagerman, K, Amiri, A, Cronister
openaire +2 more sources
AbstractA 13‐item checklist that combines physical and behavioral traits typical of fragile X [fra(X)] syndrome was evaluated prospectively in the screening of 107 males with mental retardation or severe learning disabilities. The checklist was completed before we obtained cytogenetic results.
R J, Hagerman, K, Amiri, A, Cronister
openaire +2 more sources