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   Articles with "disorder associated" as a keyword



Multisystem disorder associated with a pathogenic variant in CLCN7 in the absence of osteopetrosis

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recommendations! Published in 2024 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2494

Abstract: We clinically and genetically evaluated a Taiwanese boy presenting with developmental delay, organomegaly, hypogammaglobulinemia and hypopigmentation without osteopetrosis. Whole‐exome sequencing revealed a de novo gain‐of‐function variant, p.Tyr715Cys, in the C‐terminal domain of ClC‐7 encoded by… read more here.

Keywords: osteopetrosis; multisystem disorder; variant; pathogenic variant ... See more keywords
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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature

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recommendations! Published in 2020 at "Brain and Development"

DOI: 10.1016/j.braindev.2019.09.004

Abstract: SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de… read more here.

Keywords: scn3a pathogenic; disorder associated; disorder; novo scn3a ... See more keywords

miR-708-5p is elevated in bipolar patients and can induce mood disorder-associated behavior in mice

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recommendations! Published in 2025 at "EMBO Reports"

DOI: 10.1038/s44319-025-00410-y

Abstract: Mood disorders (MDs) are caused by an interplay of genetic and environmental (GxE) risk factors. However, molecular pathways engaged by GxE risk factors are poorly understood. Using small-RNA sequencing in peripheral blood mononuclear cells (PBMCs),… read more here.

Keywords: mir 708; disorder associated; mood disorders; disorder ... See more keywords

Modeling neurodevelopmental disorder-associated human AGO1 mutations in Caenorhabditis elegans Argonaute alg-1

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recommendations! Published in 2024 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2308255121

Abstract: Significance Argonaute (AGO) proteins, loaded with small RNAs called microRNAs (miRNAs), are essential regulators of gene expression. Mutations in human AGO proteins have been reported to cause neurodevelopmental disorders. To understand how these mutations affect… read more here.

Keywords: gene expression; neurodevelopmental disorder; caenorhabditis elegans; disorder associated ... See more keywords
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Hate at school: victimization and disorder associated with school avoidance

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recommendations! Published in 2020 at "Sociological Spectrum"

DOI: 10.1080/02732173.2020.1734890

Abstract: Abstract Previous research indicates that victimization at school and school disorder are associated with school avoidance. The appearance of hateful words and symbols at schools and verbal hateful attacks at schools are prompting additional concerns… read more here.

Keywords: associated school; disorder associated; school; hate school ... See more keywords

Demineralization of Osseous Structures as Presentation of a Rare Genetic Disorder That Is Associated With a High Rate of Mortality

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recommendations! Published in 2024 at "Case Reports in Endocrinology"

DOI: 10.1155/crie/6063059

Abstract: Objectives: Describe the details of the clinical presentation, diagnostic challenges, and management of a female neonate with neonatal severe hyperparathyroidism (NSHPT). Methods: This case report was developed from a retrospective chart review. The female infant… read more here.

Keywords: genetic disorder; calcium; associated high; rare genetic ... See more keywords

Major depression subtypes are differentially associated with migraine subtype, prevalence and severity

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recommendations! Published in 2019 at "Cephalalgia"

DOI: 10.1177/0333102419884935

Abstract: Objective Migraine and major depressive disorder show a high rate of comorbidity, but little is known about the associations between the subtypes of major depressive disorder and migraine. In this cross-sectional study we aimed at… read more here.

Keywords: migraine; depressive disorder; disorder associated; major depressive ... See more keywords

Diagnosing and Treating Pediatric Autoimmune Neuropsychiatric Disorder Associated With Streptococcal Infections.

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recommendations! Published in 2024 at "The primary care companion for CNS disorders"

DOI: 10.4088/pcc.23f03662

Abstract: The Psychiatric Consultation Service at Massachusetts General Hospital sees medical and surgical inpatients with comorbid psychiatric symptoms and conditions. During their twice weekly rounds, Dr Stern and other members of the Consultation Service discuss diagnosis… read more here.

Keywords: neuropsychiatric disorder; pediatric autoimmune; disorder associated; treating pediatric ... See more keywords