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TranscriptomicsSingle-cell chromosomal imbalances detection by array CGH
In this study, we extend array CGH technology by making the accurate detection of segmental aneusomies possible from a single lymphoblast and fibroblast following Phi29 DNA polymerase amplification Array CGH experiments were performed on two segmental aneusomic cell lines derived from patients. As a...
ORGANISM(S): Homo sapiens 
2010-07-01 | E-GEOD-4244 | biostudies-arrayexpress
UnknownClinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13.
Not available
S-EPMC10665555 | biostudies-literature
Transcriptomicsarray-CGH on single blastomeres from day-3 human cleavage stage embryos
Seventy blastomeres from fourteen frozen-thawed supernumerary human preimplantation embryos were disassociated and genomic was amplified using Multiple Displacement Amplification. BAC array-CGH was performed on the amplified products. BAC array-CGH on single blastomeres amplified by Multiple Displac...
ORGANISM(S): Homo sapiens 
2012-10-15 | E-GEOD-34290 | biostudies-arrayexpress
UnknownThree independent mutations in the TSC2 gene in a family with tuberous sclerosis.
Not available
S-EPMC2874752 | biostudies-literature
TranscriptomicsSingle-cell aneuploidy detection by array CGH
In this study, we extend array CGH technology by making the accurate detection of chromosomal imbalances possible from a single fibroblast and blastomere following Phi29 DNA polymerase amplification. Firstly, array CGH experiments were performed on four different fibroblast cell lines, derived from ...
ORGANISM(S): Homo sapiens 
2010-07-01 | E-GEOD-3642 | biostudies-arrayexpress
UnknownFamilial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.
Not available
S-EPMC384977 | biostudies-literature
UnknownVariable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
Not available
S-EPMC6777538 | biostudies-literature
UnknownSex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?
Not available
S-EPMC5567159 | biostudies-literature
UnknownDetection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.
Not available
S-EPMC1735978 | biostudies-literature
UnknownMutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.
Not available
S-EPMC2997363 | biostudies-literature
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