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UnknownUniGene cDNA array-based monitoring of transcriptome changes during mouse placental development.
Not available
S-EPMC60835 | biostudies-literature
TranscriptomicsScreening for chromosomal aberrations by array CGH in 74 patients with congenital hypothyroidism
Congenital Hypothyroidism occurs in 1:3500 live births and is therefore the most common congenital endocrine disorder. A spectrum of defective thyroid morphology, termed thyroid dysgenesis, represents 80% of permanent CH cases. Although several candidate genes have been implicated in thyroid develop...
ORGANISM(S): Homo sapiens 
2010-05-31 | E-GEOD-18152 | biostudies-arrayexpress
TranscriptomicsMating response of three yeast species (S. cerevisiae, S. paradoxus and S. mikatae)
We examined the mating response of three yeast species, by subjecting a-type cells from each of them to alpha-factor (6uM). The expression of cells before and after (60min) addition of alpha-factor were compared using S. cerevisiae cDNA microarrays. In addition, we verified our results with a true m...
ORGANISM(S): Saccharomyces paradoxus 
2010-06-11 | E-GEOD-7525 | biostudies-arrayexpress
UnknownFour-hundred million years of conserved synteny of human Xp and Xq genes on three Tetraodon chromosomes.
Not available
S-EPMC186653 | biostudies-literature
UnknownMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.
Not available
S-EPMC1196368 | biostudies-literature
UnknownPreviously reported new type of autosomal recessive primary microcephaly is caused by compound heterozygous ASPM gene mutations.
Not available
S-EPMC4050170 | biostudies-literature
UnknownKluver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).
Not available
S-EPMC5255949 | biostudies-literature
UnknownThe Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.
Not available
S-EPMC4550366 | biostudies-literature
UnknownWhole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability.
Not available
S-EPMC7549592 | biostudies-literature
UnknownNext generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Not available
S-EPMC3039499 | biostudies-literature
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