Results 321 to 330 of about 5,538,805 (353)
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.
Randi J Hagerman, Paul J. Hagerman
openaire +4 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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.
André T. Hoogeveen, Ben A. Oostra
openaire +4 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.
André T. Hoogeveen, Ben A. Oostra
openaire +4 more sources
2014
The physical, psychological, and cytogenetic characteristics of individuals with the Fragile X syndrome were reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygotes for the marker X, and unresolved issues about the syndrome were discussed.
Laura C. Politte +1 more
openaire +3 more sources
The physical, psychological, and cytogenetic characteristics of individuals with the Fragile X syndrome were reviewed. Prospects for therapy with folic acid, prenatal diagnosis, phenotype of heterozygotes for the marker X, and unresolved issues about the syndrome were discussed.
Laura C. Politte +1 more
openaire +3 more sources
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
Kay E. Davies, Lisa Chakrabarti
openaire +3 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
Kay E. Davies, Lisa Chakrabarti
openaire +3 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 +4 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 +4 more sources
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, Janet K. Williams
openaire +3 more sources
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, Janet K. Williams
openaire +3 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 +4 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 +4 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.
Khaled M. A. Amiri +2 more
openaire +3 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.
Khaled M. A. Amiri +2 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 ...
Gregory A. Wilson, John P. Phillips
openaire +5 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 ...
Gregory A. Wilson, John P. Phillips
openaire +5 more sources
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
openaire +2 more sources