 Mosaicism
"Mosaicism" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
| Descriptor ID |
D009030
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| MeSH Number(s) |
G05.365.590.175.595
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Mosaicism".
Below are MeSH descriptors whose meaning is more specific than "Mosaicism".
This graph shows the total number of publications written about "Mosaicism" by people in this website by year, and whether "Mosaicism" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 0 | 1 | 1 | | 1996 | 1 | 1 | 2 | | 1998 | 0 | 1 | 1 | | 2001 | 1 | 0 | 1 | | 2002 | 0 | 5 | 5 | | 2003 | 0 | 1 | 1 | | 2004 | 1 | 1 | 2 | | 2005 | 1 | 4 | 5 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 0 | 1 | 1 | | 2010 | 3 | 0 | 3 | | 2011 | 1 | 0 | 1 | | 2012 | 1 | 0 | 1 | | 2014 | 0 | 1 | 1 | | 2016 | 0 | 2 | 2 | | 2017 | 0 | 2 | 2 | | 2018 | 1 | 0 | 1 | | 2019 | 1 | 2 | 3 | | 2021 | 5 | 2 | 7 | | 2022 | 3 | 1 | 4 | | 2023 | 3 | 0 | 3 | | 2024 | 4 | 1 | 5 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Mosaicism" by people in Profiles.
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Doss RM, Lopez-Ignacio S, Dischler A, Hiatt L, Dashnow H, Breuss MW, Dias CM. Mosaicism in Short Tandem Repeat Disorders: A Clinical Perspective. Genes (Basel). 2025 Feb 13; 16(2).
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Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 Feb 06; 112(2):276-290.
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Ananth A, Fu C, Neul JL, Benke T, Marsh E, Suter B, Ferdinandsen K, Skinner SA, Annese F, Percy AK. MECP2 Variants in Males: More Common than Previously Appreciated. Pediatr Neurol. 2024 Dec; 161:263-267.
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Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry. Am J Med Genet A. 2024 Dec; 194(12):e63819.
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Pershad Y, Mack T, Poisner H, Jakubek YA, Stilp AM, Mitchell BD, Lewis JP, Boerwinkle E, Loos RJF, Chami N, Wang Z, Barnes K, Pankratz N, Fornage M, Redline S, Psaty BM, Bis JC, Shojaie A, Silverman EK, Cho MH, Yun JH, DeMeo D, Levy D, Johnson AD, Mathias RA, Taub MA, Arnett D, North KE, Raffield LM, Carson AP, Doyle MF, Rich SS, Rotter JI, Guo X, Cox NJ, Roden DM, Franceschini N, Desai P, Reiner AP, Auer PL, Scheet PA, Jaiswal S, Weinstock JS, Bick AG. Determinants of mosaic chromosomal alteration fitness. Nat Commun. 2024 May 07; 15(1):3800.
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Chung C, Yang X, Hevner RF, Kennedy K, Vong KI, Liu Y, Patel A, Nedunuri R, Barton ST, Noel G, Barrows C, Stanley V, Mittal S, Breuss MW, Schlachetzki JCM, Kingsmore SF, Gleeson JG. Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature. 2024 May; 629(8011):384-392.
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Singh A, Gorell ES, Lucky AW. Topical everolimus therapy for epidermal nevi associated with woolly hair nevus in a patient with a mosaic HRAS mutation. Pediatr Dermatol. 2024 Sep-Oct; 41(5):871-873.
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Jakubek YA, Zhou Y, Stilp A, Bacon J, Wong JW, Ozcan Z, Arnett D, Barnes K, Bis JC, Boerwinkle E, Brody JA, Carson AP, Chasman DI, Chen J, Cho M, Conomos MP, Cox N, Doyle MF, Fornage M, Guo X, Kardia SLR, Lewis JP, Loos RJF, Ma X, Machiela MJ, Mack TM, Mathias RA, Mitchell BD, Mychaleckyj JC, North K, Pankratz N, Peyser PA, Preuss MH, Psaty B, Raffield LM, Vasan RS, Redline S, Rich SS, Rotter JI, Silverman EK, Smith JA, Smith AP, Taub M, Taylor KD, Yun J, Li Y, Desai P, Bick AG, Reiner AP, Scheet P, Auer PL. Mosaic chromosomal alterations in blood across ancestries using whole-genome sequencing. Nat Genet. 2023 Nov; 55(11):1912-1919.
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Graham JH, Schlachetzki JCM, Yang X, Breuss MW. Genomic Mosaicism of the Brain: Origin, Impact, and Utility. Neurosci Bull. 2024 Jun; 40(6):759-776.
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Stochholm K, Holmg?rd C, Davis SM, Gravholt CH, Berglund A. Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study. Genet Med. 2024 01; 26(1):100987.
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