Results 111 to 120 of about 8,179,520 (254)

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Multimorbidity clusters and their associations with health-related quality of life in two UK cohorts

open access: yesBMC Medicine
Background Identifying clusters of multiple long-term conditions (MLTCs), also known as multimorbidity, and their associated burden may facilitate the development of effective and cost-effective targeted healthcare strategies.
Lewis Steell   +25 more
doaj   +1 more source

Trace Elements Genetics: A Potential Role in Treatment‐Resistant Major Psychoses and Related Traits?

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Trace elements are pivotal to key biological processes, with possible effects on psychopathology. We investigated the hypothesis of shared genetic factors between trace elements levels, treatment resistance and related traits. We used genome‐wide summary statistics for trace elements blood concentration, treatment‐resistant depression (TRD ...
Chiara Fabbri   +6 more
wiley   +1 more source

Exploring Genetic and Biological Interconnections Between Neuroticism, Psychological Distress, Insomnia, and C‐Reactive Protein: Insights From the UK Biobank

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychobehavioral and physical health traits often co‐occur. Although previous studies have identified associations between neuroticism, psychological distress, insomnia, and inflammatory biomarkers such as C‐reactive protein (CRP), it remains unclear whether there is a genetic basis to these associations, and which biological pathways are ...
Lydia M Li   +4 more
wiley   +1 more source

Whole-Exome Imputation Within UK Biobank Powers Rare Coding Variant Association and Fine-Mapping Analyses

open access: yes, 2020
Exome association studies to date have generally been underpowered to systematically evaluate the phenotypic impact of very rare coding variants. We leveraged extensive haplotype sharing between 49,960 exome-sequenced UK Biobank participants and the ...
Loh, Po-Ru   +7 more
core   +1 more source

European LD Reference from UK Biobank

open access: yes, 2023
LD blocks based on 20,000 European individuals from the UK Biobank (split by chromosome), with about 1.5 million SNPs based on HapMap3 and MEGA ...
Chen, Tony
core   +1 more source

Cognitive Dysfunction in Chronic Rhinosinusitis: A Scoping Review

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Cognitive dysfunction is increasingly recognized as an extra‐nasal manifestation of chronic rhinosinusitis (CRS). This scoping review characterizes the primary evidence on cognition in adult CRS, covering measures, treatment response, and incident dementia.
Luke M. O'Neil   +5 more
wiley   +1 more source

From Biobank to “Bio-Think-Tank”: Functional Evolution of UK Biobank in Public Health Policy Making

open access: yesPublic Health Reviews
ObjectivesThis study aims to explore the evolving role of the UK Biobank in public health policymaking, particularly its shift from a traditional biobank to a proactive “bio-think tank” and highlight the drivers and necessary elements of this evolution ...
Jun Yin, Antoine Flahault
doaj   +1 more source

Summary statistics for kidney stone GWAS in UK Biobank

open access: yes, 2023
Genome-wide association studies (GWAS) were performed in the UK Biobank, excluding participants with conditions predisposing to kidney stone disease (Supplementary Table 3). Genotyping was undertaken using UK-BiLEVE and UK-Biobank Axiom Arrays and called
Dominic Furniss (52210)   +16 more
core   +1 more source

Refining OVCAR‐3 xenograft models of peritoneal carcinomatosis in nu/nu mice: Comparative intraperitoneal implantation strategies and the role of basement membrane matrix

open access: yesAnimal Models and Experimental Medicine, EarlyView.
A refined murine model of advanced ovarian cancer was established by comparing localized preperitoneal implantation and intraperitoneal injection of OVCAR‐3Luc cells. While localized implantation showed limited tumor persistence, intraperitoneal delivery with BME produced sustained diffuse dissemination confirmed by BLI and histology, providing a ...
M. Teresa Perelló‐Trias   +5 more
wiley   +1 more source

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