Categoría: Articulos
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Overlooked DNA regions surrounding ‘microexons’ may hold missing pieces of autism’s genetic puzzle
New research from scientists at the University of Toronto, the Sloan Kettering Institute, King’s College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder (ASD).
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Overlooked DNA regions surrounding ‘microexons’ may hold missing pieces of autism’s genetic puzzle
New research from scientists at the University of Toronto, the Sloan Kettering Institute, King’s College London (KCL) and the Francis Crick Institute is helping piece together the missing genetics of autism spectrum disorder (ASD).
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Expert guidance on X-linked hypophosphatemia in adults and adolescents in the Gulf region
Background Results Conclusions
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Researchers identify role of newly discovered genetic variant in neurodevelopmental disorder
Researchers from Children’s Hospital of Philadelphia (CHOP) have discovered the mechanisms of previously unknown changes in a gene that result in symptoms associated with a neurodevelopmental disorder. The findings underscore the importance of a critic…
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Researchers identify role of newly discovered genetic variant in neurodevelopmental disorder
Researchers from Children’s Hospital of Philadelphia (CHOP) have discovered the mechanisms of previously unknown changes in a gene that result in symptoms associated with a neurodevelopmental disorder. The findings underscore the importance of a critic…
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Presubmission Pathologic Quality Control for FoundationOne CDx Comprehensive Genomic Profiling
Comprehensive genomic profiling using FoundationOne CDx (F1CDx) requires formalin-fixed, paraffin-embedded specimens with sufficient tumor area and DNA yield. Presubmission pathologic assessment is critical but has not been systematically evaluated in …
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Case Report: Prenatal diagnosis of congenital knee dislocation caused by BICD2 gene variant
Congenital dislocation of the knee (CDK) is a rare malformation that severely affects the quality of life of affected fetuses and imposes a heavy burden on families and society. Its etiology remains unclear and may be related to genetic factors, quadri…
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Cell-type-resolved colocalisation prioritises KCNIP2 as a candidate epilepsy drug-target detectable at inhibitory-neuron but not bulk-tissue resolution: a Mendelian randomisation and colocalisation study
Most antiseizure medicines act on a limited set of neuronal targets. Approximately a third of patients have treatment-resistant epilepsy, creating a need for mechanistically distinct drug targets. Human genetics can prioritise them, but epilepsy target…
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Bigger data reveal the second, third and fourth switches controlling a gene
We now take for granted the idea that a genome-wide association study, or GWAS, can help identify genetic variants associated with complex traits. Such studies have identified loci associated with everything from breast cancer to heart disease to diabe…
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Bigger data reveal the second, third and fourth switches controlling a gene
We now take for granted the idea that a genome-wide association study, or GWAS, can help identify genetic variants associated with complex traits. Such studies have identified loci associated with everything from breast cancer to heart disease to diabe…