Categoría: Articulos
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A tiny worm helps scientists unravel a genetic clue to kidney disease
A microscopic worm that has no kidneys is helping Rutgers scientists understand a genetic change suspected of causing a serious inherited kidney disease. By making a precise change in the roundworm’s DNA and following the proteins it produces, research…
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Exome Sequencing Identifies Novel Variants Causing Hearing Loss in Three Consanguineous Pakistani Families: Insights From Genomics and Bioinformatics Analyses
Annals of Human Genetics, Volume 90, Issue 6, Page 357-365, November 2026.
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Rare genetic variant identified as new cause of neurodevelopmental disorders
Researchers at Baylor College of Medicine and Texas Children’s Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic change that appears to cause a newly recognized neurodevelopmental disorder. The discovery prov…
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Rare genetic variant identified as new cause of neurodevelopmental disorders
Researchers at Baylor College of Medicine and Texas Children’s Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic change that appears to cause a newly recognized neurodevelopmental disorder. The discovery prov…
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Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing
BackgroundMainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA and the UK. However, standardised practice within a ju…
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Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing
BackgroundMainstreaming, in which genetic testing is shifted outside clinical genetics, can improve access to genetic testing. This is being explored in several countries, including Canada, the USA and the UK. However, standardised practice within a ju…
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Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis
BackgroundProphylactic total gastrectomy (PTG) is a risk-reducing strategy considered in individuals at high risk for diffuse gastric cancer (DGC) associated with germline CDH1 pathogenic variants.MethodsA systematic literature search (PubMed, Scopus) …
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Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis
BackgroundProphylactic total gastrectomy (PTG) is a risk-reducing strategy considered in individuals at high risk for diffuse gastric cancer (DGC) associated with germline CDH1 pathogenic variants.MethodsA systematic literature search (PubMed, Scopus) …
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<i>NSMCE2 / MMS21</i> structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease
European Journal of Human Genetics, Published online: 21 September 2026; doi:10.1038/s41431-026-02222-7NSMCE2 / MMS21 structural variant causes chromosome breakage syndrome with primordial dwarfism and severe lung disease