Categoría: Articulos
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Cerebral palsy might be a collection of symptoms, not its own disease
Historically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP in many children. In a study …
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Cerebral palsy might be a collection of symptoms, not its own disease
Historically, cerebral palsy (CP) was linked largely to events at birth, including prematurity or temporary loss of oxygen to the brain, but research over the past decade has suggested that genetic factors contribute to CP in many children. In a study …
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A phenotypic paradigm for cerebral palsy genetics
Cerebral palsy (CP) is frequently linked to Mendelian disease-associated genes, but no accepted model of its genetic architecture exists. We present a phenotypic model showing statistical evidence of association for only a minority of 515 candidate gen…
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All of Us Research Program year in review: 2025
The All of Us Research Program1 released its first genomic dataset (Curated Data Repository version 5 [CDRv5]) of almost 100,000 participants in 2022. Since then, All of Us has continued to expand the scale of its genomic offerings, releasing short-rea…
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This month in The Journal
In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…
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Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome
Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens …
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Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggests
Researchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, which encodes alpha-1 antit…
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Alpha-1 antitrypsin deficiency may raise preterm birth risk, genetic analysis suggests
Researchers at the University of Oulu have identified alpha-1 antitrypsin as a potential target for preventing spontaneous preterm birth. In a large genetic study of more than 200,000 mothers, a variant in the SERPINA1 gene, which encodes alpha-1 antit…
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How severe illness during pregnancy sometimes alters neurodevelopment
Neurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult to pin down where, when a…
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How severe illness during pregnancy sometimes alters neurodevelopment
Neurodevelopmental conditions, which include autism spectrum disorder, ADHD (attention-deficit/hyperactivity disorder) and more, affect around 10% of the American population. Despite their prevalence, it has remained difficult to pin down where, when a…