Articles with "genetic mosaicism" as a keyword



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Genetic mosaicism and population connectivity of edge-of-range Halodule wrightii populations

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Published in 2020 at "Aquatic Botany"

DOI: 10.1016/j.aquabot.2019.103161

Abstract: Abstract The genetic population structure of Halodule wrightii at locations in Florida, North Carolina, and Bermuda was investigated using 11 polymorphic microsatellite loci on samples representing 15 sites. We measured allelic diversity and genotypic richness… read more here.

Keywords: genetic mosaicism; halodule wrightii; population; mosaicism population ... See more keywords
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A six-attribute classification of genetic mosaicism

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Published in 2020 at "Genetics in Medicine"

DOI: 10.1038/s41436-020-0877-3

Abstract: Mosaicism denotes an individual who has at least two populations of cells with distinct genotypes that are derived from a single fertilized egg. Genetic variation among the cell lines can involve whole chromosomes, structural or… read more here.

Keywords: six attribute; attribute classification; mosaicism; genetic mosaicism ... See more keywords
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Modelling genetic mosaicism of neurodevelopmental disorders in vivo by a Cre-amplifying fluorescent reporter

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Published in 2020 at "Nature Communications"

DOI: 10.1038/s41467-020-19864-w

Abstract: Genetic mosaicism, a condition in which an organ includes cells with different genotypes, is frequently present in monogenic diseases of the central nervous system caused by the random inactivation of the X-chromosome, in the case… read more here.

Keywords: reporter; mosaicism; genetic mosaicism; modelling genetic ... See more keywords
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Genetic mosaicism in dermatology: Clinical utility of genetic testing of skin lesions

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Published in 2019 at "Australasian Journal of Dermatology"

DOI: 10.1111/ajd.13149

Abstract: om E et al. Nickel allergy – prevalence in a population of Swedish youths from patch test and questionnaire data. Contact Dermatitis 2008; 58: 80–7. 5. Fleming CJ, Burden AD, Forsyth A. Accuracy of questions… read more here.

Keywords: dermatology; genetic mosaicism; contact; self reported ... See more keywords
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Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling

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Published in 2018 at "BMC Medical Genetics"

DOI: 10.1186/s12881-018-0629-2

Abstract: BackgroundCongenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or autosomal recessive disorder caused… read more here.

Keywords: mosaicism; adrenal hyperplasia; genetic mosaicism; nephrogenic diabetes ... See more keywords
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De novo mutations, genetic mosaicism and human disease

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.983668

Abstract: Mosaicism—the existence of genetically distinct populations of cells in a particular organism—is an important cause of genetic disease. Mosaicism can appear as de novo DNA mutations, epigenetic alterations of DNA, and chromosomal abnormalities. Neurodevelopmental or… read more here.

Keywords: disease; genetic mosaicism; novo mutations; mutation ... See more keywords