Results 21 to 30 of about 5,372,923 (315)
Familial dysbetalipoproteinemia: highly atherogenic and underdiagnosed disorder
Кардиоваскулярная терапия и профилактика, 2021 Familial dysbetalipoproteinemia (FD) is a genetic, highly atherogenic disorder. The penetrance of FD depends on the patient’s lifestyle and concomitant diseases. Despite the fact that FD was described almost half a century ago, it is still insufficiently
A. V. Blokhina +3 more
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Case Report: Identification of Polygenic Mutations by Exome Sequencing
Frontiers in Pediatrics, 2021 The discovery of rare genetic variation through different gene sequencing methods is a very challenging subject in the field of human genetics. A case of a 1-year-old boy with metabolic acidosis and hypokalemia, a small penis, growth retardation, and G ...
Yanfeng Liu +2 more
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An assessment of opportunities to dissect host genetic variation in resistance to infectious diseases in livestock [PDF]
, 2009 This paper reviews the evidence for host genetic variation in resistance to infectious diseases for a wide variety of diseases of economic importance in poultry, cattle, pig, sheep and Atlantic salmon.
S. Genini +7 more
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Acceptability of Telegenetics for Families with Genetic Eye Diseases
, 2021 Healthcare providers around the world have implemented remote routine consultations to minimise disruption during the COVID-19 pandemic. Virtual clinics are particularly suitable for patients with genetic eye diseases as they rely on detailed histories ...
Kirsten Malcolmson +3 more
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Italian Journal of Pediatrics, 2017 A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias.
H. Rahmoune +4 more
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Causal Association between Periodontal Diseases and Cardiovascular Diseases
, 2021 Observational studies have revealed that dental diseases such as periodontitis and dental caries increase the risk of cardiovascular diseases (CVDs). However, the causality between periodontal disease (PD) and CVDs is still not clarified.
Jiangtao Dong +3 more
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Genetic screening techniques and diseases for neonatal genetic diseases [PDF]
Journal of Zhejiang University (Medical Sciences), 2021 Neonatal genetic disease is currently screened mainly based on metabolite biochemical technology. The false positive rate of biochemical screening technology is relatively high, and there are certain false negatives, and only few types of diseases can be screened. The genetic techniques have been gradually used for neonatal genetic disease screening in
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Fabry disease, do we think enough about this multisystemic disorder?: A presentation of three cases in a Serbian family [PDF]
Vojnosanitetski Pregled, 2012 Background. Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues.
Sakač Dejan +3 more
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Genetics of Alzheimer’s Disease [PDF]
BioMed Research International, 2013 Alzheimer’s disease is the most common form of dementia and is the only top 10 cause of death in the United States that lacks disease-altering treatments. It is a complex disorder with environmental and genetic components. There are two major types of Alzheimer’s disease, early onset and the more common late onset. The genetics of early-onset Alzheimer’
Ridge, Perry G. +2 more
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Scientific Reports, 2017 Abnormal nutrient metabolism is a hallmark of aging, and the underlying genetic and nutritional framework is rapidly being uncovered, particularly using C. elegans as a model. However, the direct metabolic consequences of perturbations in life history of
Arwen W. Gao +13 more
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