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UnknownAberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.
Not available
S-EPMC7877763 | biostudies-literature
TranscriptomicsaCGH/SNP data from Hepatosplenic T cell lymphoma patient samples
Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q [i(7)(q10)], of which the molecular consequences remain unknown. We report here results of an integrative genomic and transcriptomic (expression microarray and RNA-sequencing) study of ...
ORGANISM(S): Homo sapiens 
2014-05-24 | E-GEOD-57943 | biostudies-arrayexpress
TranscriptomicsExpression data from Hepatosplenic T cell lymphoma patient samples and normal spleen as control.
Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q [i(7)(q10)], of which the molecular consequences remain unknown. We report here results of an integrative genomic and transcriptomic (expression microarray and RNA-sequencing) study of ...
ORGANISM(S): Homo sapiens 
2014-05-10 | E-GEOD-57520 | biostudies-arrayexpress
TranscriptomicsIntegrative Genomic and Transcriptomic Analysis Identified Candidate Genes Implicated in the Pathogenesis of Hepatosplenic T-cell Lymphoma
Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q M-BM- [i(7)(q10)], of which the molecular consequences remain unknown. We report here results of an integrative genomic and transcriptomic (expression microarray and RNA-sequencing) stud...
ORGANISM(S): Homo sapiens 
2014-03-11 | E-GEOD-55716 | biostudies-arrayexpress
TranscriptomicsaCGH data of 5 cases of Hepatosplenic T-cell lymphoma
Hepatosplenic T-cell lymphoma (HSTL) is an aggressive lymphoma cytogenetically characterized by isochromosome 7q [i(7)(q10)], of which the molecular consequences remain unknown. We report here results of an integrative genomic and transcriptomic (expression microarray and RNA-sequencing) study of ...
ORGANISM(S): Homo sapiens 
2014-05-24 | E-GEOD-57942 | biostudies-arrayexpress
GenomicsThe molecular basis of inherited reproductive disorders

The purpose of this study is to discover genetic mutations in patients who have GnRH deficient states. This includes individuals with variant forms of hypogonadotropic hypogonadism, including individuals who have somatic anomalies involving mid-line facial defects, renal agenesis, synkinesia, and...

phs000475.v1.p1 | EGA
UnknownCommon variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers.
Not available
S-EPMC2782243 | biostudies-literature
UnknownAssociation of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
Not available
S-EPMC4537700 | biostudies-literature
UnknownIdentification of six new susceptibility loci for invasive epithelial ovarian cancer.
Not available
S-EPMC4445140 | biostudies-literature
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