Categoría: Articulos
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More accurate risk assessment developed for Alzheimer’s disease among nonwhite patients
Late-onset Alzheimer’s disease (AD) is a progressive disorder characterized by cognitive decline and memory impairment, affecting an estimated 6.9 million people in the U.S. The clinical course of AD unfolds over many years, often beginning with subtle…
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Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa
European Journal of Human Genetics, Published online: 27 August 2026; doi:10.1038/s41431-026-02216-5Utility of Face2Gene’s DeepGestalt and D-Score applications in paediatric neurodevelopmental disorders in South Africa
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Expanding the genetic landscape of SLC4A1-linked hereditary spherocytosis: discovery of a novel TM9 variant using high-resolution genomic profiling analysis
IntroductionHereditary spherocytosis (HS) is the most common inherited red cell membranopathy caused by defects in erythrocyte membrane and cytoskeletal proteins, including ankyrin, spectrin, band 3, and protein 4.2. Among these, mutations in SLC4A1, w…
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Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
Systematic analysis of rare exonic copy-number variants in Alzheimer disease identifies association with both known genes and a dosage-sensitive locus at 22q11.21, where deletions increase risk and duplications are protective. Convergent genetic and fu…
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Inherited genetic variants help identify patients at higher risk of aggressive therapy-related blood cancers
Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly according to a patient’s treat…
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Inherited genetic variants help identify patients at higher risk of aggressive therapy-related blood cancers
Some patients develop aggressive blood cancers years after receiving chemotherapy or radiotherapy for a previous cancer. These conditions, known as therapy-related myeloid neoplasms (t-MN), are currently classified mainly according to a patient’s treat…
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Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk
Systematic analysis of rare exonic copy-number variants in Alzheimer disease identifies association with both known genes and a dosage-sensitive locus at 22q11.21, where deletions increase risk and duplications are protective. Convergent genetic and fu…
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Children of centenarians often live longer and face lower cardiovascular risks, analysis finds
Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published today in JAMA Network Open.
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Children of centenarians often live longer and face lower cardiovascular risks, analysis finds
Adults with at least one parent who reached age 100 lived longer and had substantially lower risks of cardiovascular disease and hypertension than people whose parents had shorter lifespans, according to a study published today in JAMA Network Open.