Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
نویسندگان
چکیده
منابع مشابه
Functional Genomics, Genetics, and Bioinformatics
Biology has become the land of the “-omics,” including genomics [1], transcriptomics [2, 3], epigenomics [4], proteomics [5], lipidomics [6, 7], and metabolomics [8]. Each of these “-omics” generates a huge amount of high-throughput data, and it is a challenge both to analyze these data and to further investigate the function of specific molecules. Though more genomes have been completed due to...
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Fetal akinesia refers to a broad spectrum of disorders in which the unifying feature is a reduction or lack of fetal movement. Fetal akinesias may be caused by defects at any point along the motor system pathway including the central and peripheral nervous system, the neuromuscular junction and the muscle, as well as by restrictive dermopathy or external restriction of the fetus in utero. The f...
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1Bioinformatics Core, Office of Biostatistics & Quantitative Health Sciences, Department of Tropical Medicine, Medical Microbiology, and Pharmacology, University of Hawaii John A. Burns School of Medicine, Honolulu, HI 96813, USA 2Department of Medicine, University of Chicago, Chicago, IL 60637, USA 3Division of Molecular Modification and Cancer Biology, National Cancer Center Research Institut...
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In 2009, Tairyan and Illes outlined the potential challenges posed by the growing possibility of combining genetic and neuroimaging information to improve diagnostic and predictive testing of people with disorders affecting the central nervous system.1 Here, we continue that discussion with a specific focus on the potential power and utility of such combined technologies to accurately predict p...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2020
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2020-106901