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UnknownWidening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.
Not available
S-EPMC9063678 | biostudies-literature
TranscriptomicsGenotyping of two patients with microdeletions of 16p11.2p12.2 to refine the breakpoint locations
Whole genome genoyping/copy-number analysis was performed on two patients with microdeletions of 16p11.2p12.2 to refine the breakpoint locations.
ORGANISM(S): Homo sapiens 
2007-09-01 | E-MEXP-1148 | biostudies-arrayexpress
UnknownInternational chicken trade and increased risk for introducing or reintroducing highly pathogenic avian influenza A (H5N1) to uninfected countries.
Not available
S-EPMC6001958 | biostudies-literature
TranscriptomicsA genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33
Molecular cytogenetic techniques such as microarray analysis have allowed for a “genotype-first” approach to the characterization of chromosome abnormalities: in the absence of clinical features suggestive of a specific syndrome, patients with similar copy number imbalances can be examined for commo...
ORGANISM(S): Homo sapiens 
2010-12-31 | E-GEOD-21536 | biostudies-arrayexpress
TranscriptomicsComparative genomic hybridization of human samples with deletions of 16p11.2p12.2 or duplication/triplication of 16p11.2p12.2 to identify the breakpoints
Array CGH was performed to identify the breakpoints in 3 cases with deletions of 16p11.2p12.2 and 1 case with a duplication/triplication of 16p11.2p12.2.
ORGANISM(S): Homo sapiens 
2007-09-01 | E-TABM-286 | biostudies-arrayexpress
UnknownTargeting Non-proteolytic Protein Ubiquitination for the Treatment of Diffuse Large B Cell Lymphoma.
Not available
S-EPMC6026033 | biostudies-literature
UnknownHaploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Not available
S-EPMC3618980 | biostudies-literature
TranscriptomicsA transcriptional signature of fatigue derived from patients with primary Sjögren's Syndrome
Fatigue is a debilitating condition with a significant impact on patients’ quality of life. Fatigue is frequently reported by patients suffering from primary Sjo ̈gren’s Syndrome (pSS), a chronic autoimmune condition characterised by dryness of the eyes and the mouth. However, although fatigue ...
ORGANISM(S): Homo sapiens 
2015-12-31 | E-GEOD-66795 | biostudies-arrayexpress
UnknownOncogenically active MYD88 mutations in human lymphoma.
Not available
S-EPMC5024568 | biostudies-literature
UnknownThe Surface-Topography Challenge: A Multi-Laboratory Benchmark Study to Advance the Characterization of Topography.
Not available
S-EPMC12296861 | biostudies-literature
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