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UnknownAdult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles.
Not available
S-EPMC4054831 | biostudies-literature
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
UnknownTranscription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.
Not available
S-EPMC420004 | biostudies-literature
UnknownDuplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males.
Not available
S-EPMC1226209 | biostudies-literature
UnknownDosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination.
Not available
S-EPMC2790561 | biostudies-literature
UnknownProtein-truncating mutations in ASPM cause variable reduction in brain size.
Not available
S-EPMC1180496 | biostudies-literature
UnknownNovel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD.
Not available
S-EPMC3253210 | biostudies-literature
UnknownX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family.
Not available
S-EPMC1182268 | biostudies-literature
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
UnknownFOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.
Not available
S-EPMC379240 | biostudies-literature
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