Categoría: Articulos
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Causal effect of severe and non‐severe malaria on dyslipidemia in African Ancestry individuals: A Mendelian randomization study
Annals of Human Genetics, EarlyView.
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Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
The leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) is characterized by infantile-onset macrocephaly and chronic edema of the brain white matter. With delayed onset, patients typically experience motor problems, epilepsy…
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Functional polymorphisms of NOS3 and GUCY1A3 affect both nitric oxide formation and association with hypertensive disorders of pregnancy
Impaired nitric oxide (NO) formation may be associated with endothelial dysfunction and increased cardiovascular disease risk in preeclampsia (PE). Functional single-nucleotide polymorphisms (SNPs) of nitric oxide synthase 3 (NOS3) (rs3918226) and guan…
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What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
European Journal of Human Genetics, Published online: 20 February 2024; doi:10.1038/s41431-024-01555-5What is the power of a genomic multidisciplinary team approach? A systematic review of implementation and sustainability
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Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01563-5Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth
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Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01553-7Perceptions and preferences for genetic testing for sickle cell disease or trait: a qualitative study in Cameroon, Ghana and Tanzania
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Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
European Journal of Human Genetics, Published online: 19 February 2024; doi:10.1038/s41431-024-01562-6Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2
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Expansion of the neurodevelopmental phenotype of individuals with <i>EEF1A2</i> variants and genotype-phenotype study
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01560-8Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
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The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01549-3The interplay of ethics and genetic technologies in balancing the social valuation of the human genome in UNESCO declarations
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Identification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagnostic pathway
European Journal of Human Genetics, Published online: 15 February 2024; doi:10.1038/s41431-024-01550-wIdentification of people with Lynch syndrome from those presenting with colorectal cancer in England: baseline analysis of the diagno…