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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1956 1
1962 2
1963 3
1964 6
1965 10
1966 2
1967 6
1968 12
1969 11
1970 6
1971 14
1972 7
1973 10
1974 9
1975 12
1976 15
1977 20
1978 14
1979 16
1980 12
1981 6
1982 15
1983 5
1984 16
1985 15
1986 10
1987 15
1988 20
1989 19
1990 19
1991 28
1992 30
1993 32
1994 40
1995 42
1996 42
1997 45
1998 64
1999 50
2000 53
2001 49
2002 41
2003 44
2004 62
2005 47
2006 72
2007 59
2008 75
2009 53
2010 65
2011 74
2012 103
2013 98
2014 114
2015 97
2016 102
2017 110
2018 117
2019 151
2020 158
2021 134
2022 133
2023 151
2024 47

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2,630 results

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Page 1
Chromosomal mosaicism in human blastocysts: the ultimate diagnostic dilemma.
Popovic M, Dhaenens L, Boel A, Menten B, Heindryckx B. Popovic M, et al. Hum Reprod Update. 2020 Apr 15;26(3):313-334. doi: 10.1093/humupd/dmz050. Hum Reprod Update. 2020. PMID: 32141501 Review.
Given that PGT-A relies on the chromosomal constitution of the biopsied cells being representative of the entire embryo, the prevalence and clinical implications of blastocyst mosaicism continue to generate considerable controversy. OBJECTIVE AND RATIONALE: The objective o …
Given that PGT-A relies on the chromosomal constitution of the biopsied cells being representative of the entire embryo, the prevalence and …
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D. Treff NR, et al. Fertil Steril. 2021 Nov;116(5):1205-1211. doi: 10.1016/j.fertnstert.2021.06.027. Epub 2021 Jul 23. Fertil Steril. 2021. PMID: 34304887 Free article. Review.
Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether embryonic aneuploidies self-correct, and how practitioners manage embryos designated as "mosaic." This review addresses several misconceptions …
Ongoing issues include what patient population, if any, benefits from PGT-A, the true frequency of chromosomal mosaicism, whether emb …
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C. Capalbo A, et al. Am J Hum Genet. 2021 Dec 2;108(12):2238-2247. doi: 10.1016/j.ajhg.2021.11.002. Epub 2021 Nov 18. Am J Hum Genet. 2021. PMID: 34798051 Free PMC article.
We followed the distribution of aneuploid chromosomes across 73 unselected preimplantation embryos and 365 biopsies, sampled from four multifocal trophectoderm (TE) samples and the inner cell mass (ICM). When mosaicism impacted fewer than 50% of cells in one TE biopsy (low …
We followed the distribution of aneuploid chromosomes across 73 unselected preimplantation embryos and 365 biopsies, sampled from four multi …
PGDIS position statement on the transfer of mosaic embryos 2021.
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, Kahraman S, Grifo J, Katz-Jaffe M, Rubio C, Viotti M, Forman E, Xu K, Gordon T, Madjunkova S, Qiao J, Chen ZJ, Harton G, Gianaroli L, Simon C, Scott R, Simpson JL, Kuliev A. Leigh D, et al. Reprod Biomed Online. 2022 Jul;45(1):19-25. doi: 10.1016/j.rbmo.2022.03.013. Epub 2022 Mar 20. Reprod Biomed Online. 2022. PMID: 35523707 Review.
Newer technologies have revealed that some embryos may appear to have intermediate whole chromosome (or parts of a chromosome termed segmental) copy number results suggesting trophectoderm mosaicism. An embryo with a trophectoderm mosaic-range result may be the only option …
Newer technologies have revealed that some embryos may appear to have intermediate whole chromosome (or parts of a chromosome termed segment …
Mosaicism, aging and cancer.
Machiela MJ. Machiela MJ. Curr Opin Oncol. 2019 Mar;31(2):108-113. doi: 10.1097/CCO.0000000000000500. Curr Opin Oncol. 2019. PMID: 30585859 Free PMC article. Review.
The aim of this review is to survey shared risk factors associated with genetic mosaicism, aging and cancer risk. RECENT FINDINGS: Studies have associated aging, cigarette smoking and several genetic susceptibility loci with increased risk of acquiring genetic mosaicism …
The aim of this review is to survey shared risk factors associated with genetic mosaicism, aging and cancer risk. RECENT FINDINGS: St …
Germ line mosaicism.
Zlotogora J. Zlotogora J. Hum Genet. 1998 Apr;102(4):381-6. doi: 10.1007/s004390050708. Hum Genet. 1998. PMID: 9600231 Review.
Depending on various factors, such as the gene involved and/or the degree of mosaicism, the carrier of a somatic and germline mosaicism may be asymptomatic or may present with various symptoms of the disease. ...In some diseases, such as osteogenesis imperfecta, new …
Depending on various factors, such as the gene involved and/or the degree of mosaicism, the carrier of a somatic and germline mosa …
Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies.
Spinillo SL, Farina A, Sotiriadis A, Pozzoni M, Giglio S, Papale M, Candiani M, Cavoretto PI. Spinillo SL, et al. Am J Obstet Gynecol. 2022 Nov;227(5):714-727.e1. doi: 10.1016/j.ajog.2022.07.034. Epub 2022 Aug 4. Am J Obstet Gynecol. 2022. PMID: 35934121 Review.
RESULTS: Of the 80 articles reviewed, 8 retrospective matched-cohort studies (708 cases of confined placental mosaicism and 11,599 unaffected controls) compared cases with and without confined placental mosaicism and were included in the meta-analysis. ...Similarly, …
RESULTS: Of the 80 articles reviewed, 8 retrospective matched-cohort studies (708 cases of confined placental mosaicism and 11,599 un …
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders.
Bizzotto S, Walsh CA. Bizzotto S, et al. Nat Rev Neurosci. 2022 May;23(5):275-286. doi: 10.1038/s41583-022-00572-x. Epub 2022 Mar 23. Nat Rev Neurosci. 2022. PMID: 35322263 Review.
Genetic mosaicism is the result of the accumulation of somatic mutations in the human genome starting from the first postzygotic cell generation and continuing throughout the whole life of an individual. ...In this Review, we discuss recent findings in the context of genet …
Genetic mosaicism is the result of the accumulation of somatic mutations in the human genome starting from the first postzygotic cell …
Autoimmunity in Segmental Vitiligo.
Speeckaert R, Lambert J, Bulat V, Belpaire A, Speeckaert M, van Geel N. Speeckaert R, et al. Front Immunol. 2020 Oct 27;11:568447. doi: 10.3389/fimmu.2020.568447. eCollection 2020. Front Immunol. 2020. PMID: 33193342 Free PMC article. Review.
Nonetheless, the localized and unique distribution pattern points to somatic mosaicism. This places SV in a category of similar diseases such as lichen striatus, blaschkitis, linear lupus erythematosus, and linear scleroderma where an immune reaction against genetically mu …
Nonetheless, the localized and unique distribution pattern points to somatic mosaicism. This places SV in a category of similar disea …
Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives.
Aluri J, Cooper MA. Aluri J, et al. Semin Immunol. 2023 May;67:101761. doi: 10.1016/j.smim.2023.101761. Epub 2023 Apr 14. Semin Immunol. 2023. PMID: 37062181 Review.
Disease-causing somatic mosaicism has been identified in genes that also cause germline IEI, such as FAS, and in genes without significant corresponding germline disease, such as UBA1 and TLR8. There are challenges in detecting low-level somatic variants, and it is likely …
Disease-causing somatic mosaicism has been identified in genes that also cause germline IEI, such as FAS, and in genes without signif …
2,630 results