Categoría: Articulos
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Comprehensive DNA sequencing reveals hidden drivers of cancer
Michigan’s Oncology Sequencing Program, or MiOncoSeq, was the first of its kind in the nation to sequence patient tumors. Launched in 2010, the program analyzes DNA and RNA from normal tissue and tumors to identify alterations that could help guide tre…
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MRI scans and DNA data uncover new genetic links to fatty liver disease
Fatty liver disease is characterized by the accumulation of triglycerides—a type of fat—in the liver. The disease has a strong genetic component, but until now, knowledge about which genes influence its development has been limited. To gain a better un…
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MRI scans and DNA data uncover new genetic links to fatty liver disease
Fatty liver disease is characterized by the accumulation of triglycerides—a type of fat—in the liver. The disease has a strong genetic component, but until now, knowledge about which genes influence its development has been limited. To gain a better un…
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Mitochondrial membrane protein-associated neurodegeneration (mpan) in Denmark – prevalence, clinical features and molecular background
Background Objective Methods Results …
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‘Average’ human genome described for first time, with implications for disease risk
A new study has characterized the «average» human genome, providing key information on normal human genetic variation and genetic disease risk. The researchers conclude that everyone—regardless of their current health status—could potentially be told t…
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‘Average’ human genome described for first time, with implications for disease risk
A new study has characterized the «average» human genome, providing key information on normal human genetic variation and genetic disease risk. The researchers conclude that everyone—regardless of their current health status—could potentially be told t…
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PIK3R2-related megalencephaly syndrome: expanded phenotypic spectrum associated with craniosynostosis
Background Methods Results Conclusion …
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Partial trisomy 19p13.3-p13.2 from antenatal diagnosis to 7-year follow-up: case report and literature review
Partial trisomy of the short arm of chromosome 19 (19p) is a rare chromosomal abnormality with significant clinical implications. We report the prenatal diagnosis and 7-year follow-up of a boy with partial trisomy 19p13.3-p13.2 and multiple congenital …
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Inherited metabolic diseases mimicking hereditary spastic paraplegia: a cohort of ten Egyptian patients
BackgroundInborn errors of metabolism (IEMs) are a rare and often underrecognized cause of spastic paraplegia in children and adults.Owing to their high energy demands and long axons, motor neurons and the corticospinal tracts are particularly vulnerab…