Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]
, 2018 The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
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Osteoclast Genetic Diseases [PDF]
, 2011 Bone is a specialized connective tissue that performs many important functions: (i) mechanical, supporting the whole body and allowing the movements; (ii) protective, shielding many vital organs, such as brain, lung, heart and bone marrow; (iii) metabolic, regulating the homeostasis of calcium and phosphate (Baron, 1999); (iv) endocrine, regulating ...
Del Fattore A, TETI, ANNA MARIA
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Medical Genetic Counseling Of Women With Congenital Heart Diseases Of Fetus [PDF]
, 2019 Aim of the work. Determine the effectiveness of prenatal diagnosis of congenital heart defects in the fetus and the informativeness of different markers used in the medical-genetic counseling of pregnant women..Materials and methods.
Helner, N. (Nadiya) +3 more
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Genetics of Alzheimer's Disease [PDF]
Neurotherapeutics, 2014 The analyses of genetic factors contributing to Alzheimer's disease (AD) and other dementias have evolved at the same pace as genetic and genomic technologies are developed and improved. The identification of the first genes involved in AD arose from family-based studies, but risk factors have mainly been identified by studies comparing groups of ...
Guerreiro, R, Hardy, J
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Alzheimer disease genetic risk factor APOE e4, and cognitive abilities in 111,739 UK Biobank participants [PDF]
, 2016 Background: the apolipoprotein (APOE) e4 locus is a genetic risk factor for dementia. Carriers of the e4 allele may be more vulnerable to conditions that are independent risk factors for cognitive decline, such as cardiometabolic diseases.
Anderson, Jana +14 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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Clinical utility and cost-effectiveness of BeginNGS newborn screening by genome sequencing and standard newborn screening for severe childhood genetic diseases: an adaptive, international and comparative clinical trial. [PDF]
BMJ OpenReimers R +14 more
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Ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşleri
Adıyaman Üniversitesi Sağlık Bilimleri Dergisi, 2022 Amaç: Araştırma, ebelik bölümü öğrencilerinin genetik hastalıklara ve genetik danışmanlığa ilişkin bilgi ve görüşlerini belirlemek amacıyla yapılmıştır.Gereç ve Yöntem: Araştırma 1 Aralık-31 Mayıs 2017 tarihleri arasında, tanımlayıcı tipte, 10 fakülte ...
Rukiye Demir +2 more
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Disease-specific, neurosphere-derived cells as models for brain disorders [PDF]
, 2010 There is a pressing need for patient-derived cell models of brain diseases that are relevant and robust enough to produce the large quantities of cells required for molecular and functional analyses.
Abrahamsen, G. +29 more
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The Lancet, 2010 Knowledge of the primary cause of a disease is essential for elucidation of its mechanisms, and for adequate classification, prognosis, and treatment. Recently, the causes of many kidney diseases have been shown to be single-gene defects-eg, steroid-resistant nephrotic syndrome, which is caused by podocin mutations in about 25% of children and nearly ...
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