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TranscriptomicsThe fine-scale and complex architecture of human copy number variation
Despite considerable excitement over the potential functional significance of copy number variants (CNVs), we still lack knowledge of the fine-scale architecture of the large majority of CNV regions in the human genome. In this study, we used a high-resolution array-based comparative genomic hybridi...
ORGANISM(S): Homo sapiens 
2008-01-23 | E-GEOD-9831 | biostudies-arrayexpress
TranscriptomicsBlood expression profiles of fragile X premutation carriers identify genes involved in neurodegenerative and infertility phenotypes [FXTAS]
Fragile X premutation carriers (fXPC) of the CGG expansion in the 5M-bM-^@M-^Y-UTR of the fragile X mental retardation 1 (FMR1) gene are at high risk of Fragile X Tremor/Ataxia Syndrome (FXTAS), and females might undergo Premature Ovarian Failure (POF1). We have evaluated the peripheral blood gene e...
ORGANISM(S): Homo sapiens 
2014-02-20 | E-GEOD-48873 | biostudies-arrayexpress
TranscriptomicsBlood expression profiles of fragile X premutation carriers identify genes involved in neurodegenerative and infertility phenotypes [SHSY5Y]
Fragile X premutation carriers (fXPC) of the CGG expansion in the 5M-bM-^@M-^Y-UTR of the fragile X mental retardation 1 (FMR1) gene are at high risk of Fragile X Tremor/Ataxia Syndrome (FXTAS), and females might undergo Premature Ovarian Failure (POF1). We have evaluated the peripheral blood gene e...
ORGANISM(S): Homo sapiens 
2014-02-20 | E-GEOD-48902 | biostudies-arrayexpress
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