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Results by year

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

Year Number of Results
1963 1
1969 1
1970 2
1971 3
1973 5
1974 2
1975 11
1976 15
1977 12
1978 10
1979 14
1980 11
1981 15
1982 7
1983 9
1984 13
1985 10
1986 14
1987 17
1988 21
1989 17
1990 25
1991 19
1992 30
1993 37
1994 47
1995 32
1996 46
1997 51
1998 48
1999 45
2000 56
2001 42
2002 41
2003 53
2004 47
2005 49
2006 49
2007 49
2008 64
2009 40
2010 60
2011 68
2012 74
2013 80
2014 99
2015 72
2016 66
2017 93
2018 94
2019 93
2020 108
2021 99
2022 112
2023 109
2024 41

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2,134 results

Results by year

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Page 1
Mosaicism for trisomy 21: a review.
Papavassiliou P, Charalsawadi C, Rafferty K, Jackson-Cook C. Papavassiliou P, et al. Am J Med Genet A. 2015 Jan;167A(1):26-39. doi: 10.1002/ajmg.a.36861. Epub 2014 Nov 20. Am J Med Genet A. 2015. PMID: 25412855 Review.
The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidence of mosaicism, the meiotic and/or mitotic chromosomal malsegregation events resulting in mosaicism, the observation of …
The primary topics discussed in this overview of the extant literature include the history of this condition and its diagnosis, the incidenc …
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 …
Discordant non-invasive prenatal testing (NIPT) - a systematic review.
Hartwig TS, Ambye L, Sørensen S, Jørgensen FS. Hartwig TS, et al. Prenat Diagn. 2017 Jun;37(6):527-539. doi: 10.1002/pd.5049. Epub 2017 Jun 1. Prenat Diagn. 2017. PMID: 28382695 Review.
Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and …
Details on maternal age, gestational age, platform/company, Z-score, fetal fraction, results and explanation were specified. The main …
Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion.
Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org. Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org. Fertil Steril. 2020 Aug;114(2):246-254. doi: 10.1016/j.fertnstert.2020.05.014. Fertil Steril. 2020. PMID: 32741460 Free article. Review.
Since the advent of preimplantation genetic testing for aneuploidy (PGT-A) in the 1990s, substantial changes in test methodology and technology now allow the detection and reporting of intermediate chromosome copy number (commonly referred to as mosaicism) for aneuploidy i …
Since the advent of preimplantation genetic testing for aneuploidy (PGT-A) in the 1990s, substantial changes in test methodology and technol …
The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome.
Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. Meng L, et al. Am J Med Genet A. 2022 Mar;188(3):858-866. doi: 10.1002/ajmg.a.62594. Epub 2021 Dec 8. Am J Med Genet A. 2022. PMID: 35148024 Free PMC article.
Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numbers of CGG repeats between the two alleles, such that in addition to a full mutation allele there is an allele in the normal or premutation …
Mosaicism in fragile X syndrome (FXS) refers to two different FMR1 allele variations: size mosaicism represents different numb …
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 …
Segmental Vitiligo.
van Geel N, Speeckaert R. van Geel N, et al. Dermatol Clin. 2017 Apr;35(2):145-150. doi: 10.1016/j.det.2016.11.005. Dermatol Clin. 2017. PMID: 28317524 Review.
Recent evidence suggests that segmental and nonsegmental vitiligo could represent variants of the same disease spectrum. Observational studies with respect to its distribution pattern point to a possible role of cutaneous mosaicism, whereas the original stated derma …
Recent evidence suggests that segmental and nonsegmental vitiligo could represent variants of the same disease spectrum. Observational …
On the reproductive capabilities of aneuploid human preimplantation embryos.
Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR. Capalbo A, et al. Am J Hum Genet. 2022 Sep 1;109(9):1572-1581. doi: 10.1016/j.ajhg.2022.07.009. Am J Hum Genet. 2022. PMID: 36055209 Free PMC article. Review.
In IVF cycles, the application of aneuploidy testing at the blastocyst stage is quickly growing, and the latest reports estimate almost half of cycles in the US undergo preimplantation genetic testing for aneuploidies (PGT-A). Following PGT-A cycles, understanding the predicti …
In IVF cycles, the application of aneuploidy testing at the blastocyst stage is quickly growing, and the latest reports estimate almost half …
Genomic variation in neurons.
Zolzaya S, Narumoto A, Katsuyama Y. Zolzaya S, et al. Dev Growth Differ. 2024 Jan;66(1):35-42. doi: 10.1111/dgd.12898. Epub 2023 Nov 2. Dev Growth Differ. 2024. PMID: 37855730 Review.
Additionally, mutations in the neuronal genome can occur in the mature brain. This observed genomic mosaicism in the brain can be produced by multiple endogenous and environmental factors and careful analyses of these observed variations in the neuronal genom …
Additionally, mutations in the neuronal genome can occur in the mature brain. This observed genomic mosaicism in the brain can …
2,134 results