Results 51 to 60 of about 10,250,216 (364)
iScience, 2022 Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu +9 more
doaj +1 more source
Molecular Genetics of Intracranial Meningiomas with Emphasis on Canonical Wnt Signalling. [PDF]
, 2016 Research over the last decade recognized the importance of novel molecular pathways in pathogenesis of intracranial meningiomas. In this review, we focus on human brain tumours meningiomas and the involvement of Wnt signalling pathway genes and proteins ...
Kafka, Anja +2 more
core +2 more sources
Rare genetic variants: making the connection with breast cancer susceptibility
AIMS Genetics, 2015 The practice of clinical genetics in the context of breast cancer predisposition has reached another critical point in its evolution. For the past two decades, genetic testing offered to women attending clinics has been limited to BRCA1 and BRCA2 unless ...
Tú Nguyen-Dumont +3 more
doaj +1 more source
Human variation in population-wide gene expression data predicts gene perturbation phenotype
iScience, 2022 Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro +18 more
doaj +1 more source
Portrayal of psychiatric genetics in Australian print news media, 1996-2009 [PDF]
, 2011 Objective: To investigate how Australian print news media portray psychiatric genetics. Design and setting: Content and framing analysis of a structured sample of print news items about psychiatric genetics published in Australian newspapers between 1996
Bonfiglioli, C +4 more
core +1 more source
Journal of Genetic Counseling, 2017 International advocacy of patient-centred healthcare delivery has led to emphasis on the (re)design and evaluation of healthcare processes and outcomes from a patient perspective.
A. C. Tirado +6 more
semanticscholar +1 more source
The Genetics of Parkinson’s Disease and Implications for Clinical Practice
Genes, 2021 The genetic landscape of Parkinson’s disease (PD) is characterised by rare high penetrance pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a significant minority in PD cases and high frequency, low penetrance
Jacob O Day, S. Mullin
semanticscholar +1 more source
Clinical Case Reports, 2017 Key Clinical Message 15q deletions have been described in association with intellectual disability and autism spectrum disorder (ASD). Previous reports have supported the role of 15q24 low copy repeats (LCRs) in mediating alternatively sized genomic ...
Dina F. Ahram +6 more
doaj +1 more source
Clinical genetics and genomic medicine in Qatar
Molecular Genetics & Genomic Medicine, 2018 Clinical genetics and genomic medicine in Qatar.
Nader I. Al-Dewik +13 more
semanticscholar +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Pediatric patients with extracranial solid tumors (ST) receiving chemotherapy are at an increased risk for Pneumocystis jirovecii pneumonia (PJP). However, evidence guiding prophylaxis practices in this population is limited. A PJP‐related fatality at our institution highlighted inconsistent prescribing approaches and concerns about
Kriti Kumar +8 more
wiley +1 more source