Categoría: Articulos
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Tumor profiling reveals enzyme as a candidate target in aggressive brain cancer
Researchers at the Icahn School of Medicine at Mount Sinai and collaborators have identified candidate treatment targets and potential prognostic markers for high-grade glioma, an aggressive brain cancer, in children, adolescents and young adults.
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Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
European Journal of Human Genetics, Published online: 17 September 2026; doi:10.1038/s41431-026-02223-6Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
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Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
European Journal of Human Genetics, Published online: 17 September 2026; doi:10.1038/s41431-026-02223-6Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients
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Genetic risk for PTSD may vary depending on the type of trauma experienced, large study suggests
A study reveals that your genes may make you more vulnerable to post-traumatic stress disorder (PTSD) from certain types of trauma—particularly childhood neglect—than from others.
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Genetic risk for PTSD may vary depending on the type of trauma experienced, large study suggests
A study reveals that your genes may make you more vulnerable to post-traumatic stress disorder (PTSD) from certain types of trauma—particularly childhood neglect—than from others.
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Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials
Key messagesAdeno-associated virus-mediated mini- and micro-dystrophin gene therapies provide modest functional benefits in ambulatory patients with Duchenne muscular dystrophy.Treatment effects are more consistent and pronounced in younger children.Sa…
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Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials
BackgroundAdeno-associated virus (AAV)-mediated mini- and micro-dystrophin gene therapies have emerged as promising treatments for Duchenne muscular dystrophy (DMD), yet their overall efficacy and safety remain uncertain.ObjectiveTo systematically eval…
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Biallelic <i>RDH11</i> variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series
European Journal of Human Genetics, Published online: 16 September 2026; doi:10.1038/s41431-026-02232-5Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter…
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Recent Advances in Surveillance Strategies for Nasopharyngeal Carcinoma
PURPOSE OF REVIEW: Nasopharyngeal carcinoma (NPC) is a malignant tumor characterized by a distinct geographical distribution. Effective surveillance is crucial for the early detection of recurrence or metastasis and for improving patient prognosis.This review systematically examines current NPC follow-up protocols and recent developments to inform individualized precision surveillance.