Results 11 to 20 of about 10,016,032 (374)
iScience, 2021 Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson +12 more
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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
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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
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Clinical genetics of craniosynostosis [PDF]
Current Opinion in Pediatrics, 2017 Purpose of review When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between.
Wilkie, A, Johnson, D, Wall, S
openaire +3 more sources
Rare Genetic Diseases: Nature's Experiments on Human Development
iScience, 2020 Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee +3 more
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Lynch syndrome genetics and clinical implications.
Gastroenterology, 2023 Lynch syndrome (LS) is one of the most prevalent hereditary cancer syndromes in man and accounts for some 3% of unselected patients with colorectal or endometrial cancer and 10-15% of those with DNA mismatch repair (MMR)-deficient tumors.
P. Peltomäki +3 more
semanticscholar +1 more source
Neuroblastoma tumour genetics: clinical and biological aspects [PDF]
Journal of Clinical Pathology, 2001 Nick Bown
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Mosaicism in clinical genetics [PDF]
Molecular Case Studies, 2021 Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
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THE ROLE OF GENETICS IN MODERN MEDICINE
Байкальский медицинский журнал, 2022 The lecture examines the role of modern genetics and its significance for medicine. The goals of genetics and its structure are determined. It is shown that modern medical genetics is divided into general genetics, clinical genetics and laboratory ...
Elena Anatolyevna Tkachuk +1 more
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Genetics of Obesity in Humans: A Clinical Review
International Journal of Molecular Sciences, 2022 Obesity is a complex multifactorial disorder with genetic and environmental factors. There is an increase in the worldwide prevalence of obesity in both developed and developing countries.
R. Mahmoud, V. Kimonis, M. Butler
semanticscholar +1 more source