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 |
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1982 | 1 | 0 | 1 | 1987 | 2 | 0 | 2 | 1988 | 1 | 0 | 1 | 1989 | 2 | 0 | 2 | 1990 | 1 | 1 | 2 | 1991 | 0 | 1 | 1 | 1992 | 0 | 1 | 1 | 1993 | 0 | 1 | 1 | 1995 | 0 | 1 | 1 | 1996 | 1 | 0 | 1 | 1997 | 0 | 2 | 2 | 2000 | 2 | 3 | 5 | 2001 | 0 | 1 | 1 | 2002 | 1 | 0 | 1 | 2003 | 1 | 1 | 2 | 2004 | 1 | 0 | 1 | 2005 | 2 | 0 | 2 | 2006 | 1 | 1 | 2 | 2007 | 1 | 1 | 2 | 2008 | 0 | 2 | 2 | 2009 | 0 | 1 | 1 | 2010 | 1 | 1 | 2 | 2011 | 1 | 0 | 1 | 2012 | 0 | 1 | 1 | 2013 | 1 | 1 | 2 | 2015 | 2 | 0 | 2 | 2016 | 2 | 0 | 2 | 2017 | 0 | 2 | 2 | 2018 | 1 | 0 | 1 | 2019 | 2 | 0 | 2 |
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Below are the most recent publications written about "Mosaicism" by people in Profiles.
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Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB. Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome. Nat Genet. 2019 10; 51(10):1438-1441.
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Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, Jorde LB, Quinlan AR. Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation. Elife. 2019 09 24; 8.
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Baban A, Magliozzi M, Loeys B, Adorisio R, Alesi V, Secinaro A, Corica B, Vricella L, Dietz HC, Drago F, Novelli A, Amodeo A. First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report. BMC Med Genet. 2018 09 15; 19(1):170.
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Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D'Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM. Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder. Nat Neurosci. 2017 09; 20(9):1217-1224.
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Greeley SA, Littlejohn E, Husain AN, Waggoner D, Gundeti M, Rosenfield RL. The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?. Horm Res Paediatr. 2017; 87(3):205-212.
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Mirzaa GM, Campbell CD, Solovieff N, Goold C, Jansen LA, Menon S, Timms AE, Conti V, Biag JD, Adams C, Boyle EA, Collins S, Ishak G, Poliachik S, Girisha KM, Yeung KS, Chung BHY, Rahikkala E, Gunter SA, McDaniel SS, Macmurdo CF, Bernstein JA, Martin B, Leary R, Mahan S, Liu S, Weaver M, Doerschner M, Jhangiani S, Muzny DM, Boerwinkle E, Gibbs RA, Lupski JR, Shendure J, Saneto RP, Novotny EJ, Wilson CJ, Sellers WR, Morrissey M, Hevner RF, Ojemann JG, Guerrini R, Murphy LO, Winckler W, Dobyns WB. Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. JAMA Neurol. 2016 07 01; 73(7):836-845.
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Mirzaa G, Timms AE, Conti V, Boyle EA, Girisha KM, Martin B, Kircher M, Olds C, Juusola J, Collins S, Park K, Carter M, Glass I, Krägeloh-Mann I, Chitayat D, Parikh AS, Bradshaw R, Torti E, Braddock S, Burke L, Ghedia S, Stephan M, Stewart F, Prasad C, Napier M, Saitta S, Straussberg R, Gabbett M, O'Connor BC, Keegan CE, Yin LJ, Lai AHM, Martin N, McKinnon M, Addor MC, Boccuto L, Schwartz CE, Lanoel A, Conway RL, Devriendt K, Tatton-Brown K, Pierpont ME, Painter M, Worgan L, Reggin J, Hennekam R, Tsuchiya K, Pritchard CC, Aracena M, Gripp KW, Cordisco M, Van Esch H, Garavelli L, Curry C, Goriely A, Kayserilli H, Shendure J, Graham J, Guerrini R, Dobyns WB. PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution. JCI Insight. 2016 06 16; 1(9).
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Sengupta S, Gulukota K, Zhu Y, Ober C, Naughton K, Wentworth-Sheilds W, Ji Y. Ultra-fast local-haplotype variant calling using paired-end DNA-sequencing data reveals somatic mosaicism in tumor and normal blood samples. Nucleic Acids Res. 2016 Feb 18; 44(3):e25.
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McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR. Familial recurrences of FOXG1-related disorder: Evidence for mosaicism. . 2015 Dec; 167A(12):3096-102.
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Johnston JJ, Sapp JC, Curry C, Horton M, Leon E, Cusmano-Ozog K, Dobyns WB, Hudgins L, Zackai E, Biesecker LG. Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism. . 2014 Jan; 164A(1):120-8.
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