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TranscriptomicsArray-CGH analysis of X chromosome of XLMR patient
Array-CGH analysis of X chromosome of XLMR patient Keywords: comparative genomic hybridization Comparison of 6 patient samples in 2 dyes; samples XY1, Xy2, and XY3 can be considered as control samples.
ORGANISM(S): Homo sapiens 
2008-05-27 | E-GEOD-10049 | biostudies-arrayexpress
TranscriptomicsX chromosome-specific Array-CGH of XLMR patient
Mental retardation (MR) is a non-progressive cognitive impairment affecting 2 to 3% of the Western population. So far, point mutations and subtle deletions and insertions have been shown to represent only a proportion (<40%) of genetic causes underlying X-linked mental retardation (XLMR). We have ...
ORGANISM(S): Homo sapiens 
2010-06-25 | E-GEOD-9143 | biostudies-arrayexpress
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
Genomicsena-DATASET-TAGC-18-03-2014-13:20:29:283-320 - samples
Whole genome, high coverage, sequencing of 128 Ashkenazi Jewish controls
EGAD00001000781 | EGA
GenomicsWhole-Genome Sequencing of 128 Ashkenazi Jewish individuals
We sequenced 128 individuals of Ashkenazi Jewish ancestry. All individuals were controls in other studies: (1) Longevity (Gil Atzmon's lab; Albert Einstein College of Medicine), n=74. (2) Parkinson's disease (Lorraine Clark's lab; Columbia University Medical Center), n=54. Whole-genome, high-cover...
EGAS00001000664 | EGA
GenomicsThe Ashkenazi Genome Consortium Data Access Committee
Data Access Committee EGAC00001000151
EGAC00001000151 | EGA
TranscriptomicsA non-coding mutation implicates HCFC1 in non-syndromic intellectual disability
Human disease mutation discovery has so far been biased towards protein coding regions. Having excluded all annotated coding regions, we performed targeted massively parallel re-sequencing of the non-repetitive genomic linkage interval of the MRX3 family at Xq28. We identified a regulatory mutation ...
ORGANISM(S): Homo sapiens 
2012-09-01 | E-GEOD-39326 | biostudies-arrayexpress
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