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TranscriptomicsMapping of the GDI1 duplication at Xq28 in four unrelated XLMR patients
In a study to elucidate the genetic defects in patients with X-linked mental retardation (XLMR) we performed X chromosome-specific BAC-array-CGH and identified a 0.33 Mb inherited recurrent copy number gain at Xq28 in affected males of four unrelated XLMR families. All aberrations segregate with the...
ORGANISM(S): Homo sapiens 
2010-08-16 | E-GEOD-17813 | biostudies-arrayexpress
TranscriptomicsMapping of the HUWE1 duplication at Xp11.22 in eight unrelated XLID patients
In a study to elucidate the genetic defects in patients with X-linked intellectual disability (XLID) we performed X chromosome-specific BAC-array-CGH and identified 0.33 to 1.0 Mb nonrecurrent copy number gains at Xp11.22 in affected males of unrelated XLID families. All aberrations segregate with t...
ORGANISM(S): Homo sapiens 
2012-09-03 | E-GEOD-32945 | biostudies-arrayexpress
TranscriptomicsMice with targeted deletion of Nxf7, the murine ortholog of the clinically implicated NXF5, display impaired hippocampal learning and neuroplasticity
Members of the Nuclear mRNA Export Factor (NXF) family are implicated in nuclear export and/or cytoplasmic transport of mRNAs in eukaryotic cells. We previously proposed NXF5 to be involved in cognitive development and aimed to study its functional role further using a mouse model. The syntenic regi...
ORGANISM(S): Mus musculus 
2013-01-28 | E-GEOD-29541 | biostudies-arrayexpress
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