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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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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 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
2018Fragile 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
2019Fragile 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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[Fragile X chromosomes and fragile X syndrome].
Ugeskrift for laeger, 2006A 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 +2 more
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2004
Am Ende eines Vortrages uber das Fragile X-Syndrom erhielt die Autorin folgende Nachricht von einem Betroffenen:„lch danke Ihnen dafur, dass Sie die Offentlichkeit uber uns informieren. Wir haben viel zu erzahlen, aber wir brauchen Ihre Hilfe.Wir konnen es nicht allein tun!“ Dieses Kapitel ist die Antwort auf die Bitte dieses Mannes und soll den Dialog
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Am Ende eines Vortrages uber das Fragile X-Syndrom erhielt die Autorin folgende Nachricht von einem Betroffenen:„lch danke Ihnen dafur, dass Sie die Offentlichkeit uber uns informieren. Wir haben viel zu erzahlen, aber wir brauchen Ihre Hilfe.Wir konnen es nicht allein tun!“ Dieses Kapitel ist die Antwort auf die Bitte dieses Mannes und soll den Dialog
openaire +1 more source