Results 291 to 300 of about 225,713 (333)

The Fragile‐X Syndrome

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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Fragile X Syndrome

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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The fragile X syndrome

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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The fragile X syndromes

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 and fragile X-associated tremor ataxia syndrome

2018
Fragile X-associated disorders encompass several conditions, which are caused by expansion mutations in the fragile X mental retardation 1 (FMR1) gene. Fragile X syndrome is the most common inherited etiology of intellectual disability and results from a full mutation or >200 CGG repeats in FMR1.
Deborah A, Hall, Elizabeth, Berry-Kravis
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Fragile X Syndrome: Introduction

2019
Fragile X syndrome (FXS) is one of the most common reasons for intellectual disability (ID). First described in the 1940s, it took many years to understand the disease. The awe-inspiring breakthroughs in both science and technology facilitated the recognition of the unique inheritance pattern and the genetic mechanism of fragile X.
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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Cell, 1991
Annemiske J.M.H. Verkerk, M. Pieretti, J. Sutcliffe, Ying-Hui Fu, D. Kuhl, A. Pizzuti, O. Reiner, S. Richards, Maureen F. Victoria, Fuping Zhang, B. Eussen, G. Ommen, L. Blonden, G. Riggins, J. L. Chastain, Catherine B. Kunst, H. Galjaard, C. Caskey, D. Nelson, B. Oostra, S. Warren   +20 more
semanticscholar   +1 more source

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

Science, 1991
I. Oberle, François Rousseau, D. Heitz, C. Kretz, D. Devys, A. Hanauer, J. Boué, M. Bertheas, J. Mandel   +8 more
semanticscholar   +1 more source

[Fragile X chromosomes and fragile X syndrome].

Ugeskrift for laeger, 2006
A 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, Karen, Grønskov, Karen, Brøndum-Nielsen   +2 more
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Absence of expression of the FMR-1 gene in fragile X syndrome.

Cell, 1991
M. Pieretti, Fuping Zhang, Ying-Hui Fu, S. Warren, B. Oostra, C. Caskey, David L. Nelson   +6 more
semanticscholar   +1 more source