Categoría: Articulos
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End of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes
Mosaicism refers to the presence of multiple cell clones with distinct genotypes arising from a single zygote. The phenotype of mosaic individuals depends on the extent of mosaicism, ranging from localised to almost generalised. We report three diagnos…
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Mosaic variegated aneuploidy as a novel feature in patients with Mulibrey nanism and TRIM37 variants
Mulibrey nanism is a rare disorder caused by biallelic tripartite motif containing protein 37 (TRIM37) variants and characterised by prenatal onset growth failure, dysmorphic features, restrictive heart disease and predisposition to tumours. TRIM37 has…
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Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models
European Journal of Human Genetics, Published online: 16 February 2026; doi:10.1038/s41431-026-02031-yGenetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service mo…
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Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies
BackgroundMonogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal dominant disease genes have been detected across multiple st…
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Later age of natural menopause among women with the pathogenic CHEK2 c.1100delC variant: a validation study
BackgroundThe average age of natural menopause (ANM) for European women is 50–52 years. Reproductive risk and lifestyle factors have been found to be associated with ANM. Furthermore, a genome-wide association study found that women with a CHEK2 …
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Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
European Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02015-yPriority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study
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Impact of a digital platform on genetic counselling encounters in the screening context
European Journal of Human Genetics, Published online: 13 February 2026; doi:10.1038/s41431-026-02029-6Impact of a digital platform on genetic counselling encounters in the screening context
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Delineating the trajectory of adult chronic diseases and healthcare use for 22q11.2 microdeletion in a general population context
BackgroundChildren with complex genetic diseases increasingly survive to adulthood, but adult health is poorly understood. Using a genetics-first approach we investigated the incidence and accrual of cardiovascular and other outcomes in people with mol…
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Delineating the Genetic Basis of <i>RNF213</i>-related vasculopathies: The association of <i>PKHD1</i> variants with bilateral cerebral vasculopathy
European Journal of Human Genetics, Published online: 12 February 2026; doi:10.1038/s41431-026-02030-zDelineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy
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Genetic polymorphisms of the CDC27 gene are associated with susceptibility and outcomes of non-syndromic congenital heart disease: a bi-ethnic case–control study in Chinese populations
BackgroundCell division cycle 27 (CDC27) gene expression is closely associated with the cell cycle and has been implicated in the pathogenesis of congenital heart disease (CHD) in animal models. This study focuses on investigating whether single-nucleo…