The effect of type 2 diabetes genetic predisposition on non-cardiovascular comorbidities [PDF]
Nature CommunicationsType 2 diabetes is associated with a range of non-cardiovascular non-oncologic comorbidities. To move beyond associations and evaluate causal effects between type 2 diabetes genetic predisposition and 21 comorbidities, we apply Mendelian randomization ...
Ana Luiza Arruda +18 more
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Genetic markers of children asthma: predisposition to disease course variants
Вавиловский журнал генетики и селекции, 2023 Asthma is a heterogeneous and often difficult to treat condition that results in a disproportionate cost to healthcare systems. Children with severe asthma are at increased risk for adverse outcomes including medication-related side effects, life ...
M. V. Smolnikova +3 more
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Clinical Pediatric Hematology-Oncology, 2023 Cancer predisposition syndromes (CPS) are a group of genetic disorders that increase the risk of developing various types of cancer. The prevalence of CPS in children has been known to be up to 18-20% based on recent reports.
Jae Won Yoo
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OBESITY AND DYSLIPIDEMIA IN CHILDREN WITH CHRONIC HEPATITIS [PDF]
Romanian Journal of Pediatrics, 2016 Chronic hepatitis association with various types of dyslipidemia is a reality not only for the obese pediatric patient, in which we expect to find hypercholesterolemia and / or hypertriglyceridemias, but also for normal weight children with hepatitis ...
Alice N. Azoicai +7 more
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Germline RUNX1 variants in paediatric patients in a French specialised centre
eJHaem, 2023 Familial platelet disorder with associated myeloid malignancy (FPD‐MM; OMIM 601399) is related to germline RUNX1 mutation. The pathogenicity of RUNX1 variants was initially linked to FPD‐MM phenotype, but the discovery of new variants through the ...
Cécile Liu +10 more
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Apolipoprotein E gene polymorphisms as risk factors for carotid atherosclerosis [PDF]
Vojnosanitetski Pregled, 2014 Background/Aim. Atherosclerosis is still the leading cause of death in Western world. Development of atherosclerotic plaque involves accumulation of inflammatory cells, lipids, smooth muscle cells and extracellular matrix proteins in the intima ...
Zurnić Irena +5 more
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Genetic Predisposition to Respiratory Diseases: Infiltrative Lung Diseases [PDF]
Respiration, 2006 The availability of high-throughput genotyping and large collaborative clinical networks creating well-characterized patient populations with DNA repositories has facilitated genome-wide scans and candidate gene studies to identify susceptibility alleles for the development of interstitial lung disease.
Mark P, Steele, Kevin K, Brown
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Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing. [PDF]
PLoS ONE, 2017 Genetic predisposition increases the risk of familial breast cancer. Recent studies indicate that genetic predisposition for familial breast cancer can be ethnic-specific.
Yeong C Kim +10 more
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Self-reported cancer family history is a useful tool for identification of individuals at risk of hereditary cancer predisposition syndrome at primary care centers in middle-income settings: a longitudinal study [PDF]
Genetics and Molecular Biology, 2016 Analysis of cancer family history (CFH) offers a low-cost genetic tool to identify familial cancer predisposition. In middle-income settings, the scarcity of individual records and database-linked records hinders the assessment of self-reported CFH ...
Milena Flória-Santos +6 more
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Modifier genes and Lynch syndrome: some considerations
Hereditary Cancer in Clinical Practice, 2022 Lynch Syndrome (LS) is a highly variable entity with some patients presenting at very young ages with malignancy whereas others may never develop a malignancy yet carry an unequivocal genetic predisposition to disease.
Rodney J. Scott
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