Results 291 to 300 of about 503,381 (321)
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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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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 J. +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 J. +10 more
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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
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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
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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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Pediatrics In Review, 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 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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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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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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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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Archivio stomatologico, 1990
The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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The fragile X syndrome include clinical features macroorchidism, ear large, prognathism, elongated facies, speech dysfunction, mental retardation and mitral valve prolapse. The interest for this syndrome is linked to the antibiotic prophylaxis for bacterial secondary endocarditis and bacteremia.
FEMIANO, Felice, COZZOLINO S.
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