Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

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

Year Number of Results
2003 1
2004 1
2005 1
2011 2
2013 1
2014 1
2015 1
2016 3
2017 3
2018 2
2019 2
2020 6
2021 2
2022 1
2023 3
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

28 results

Results by year

Filters applied: . Clear all
Page 1
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.
The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal cancer and true fetal mosaicism. ...
The main reasons for discordant results were confined placental mosaicism, maternal copy number variation, vanished twin, maternal ca …
Factors associated with embryo mosaicism: a systematic review and meta-analysis.
Cascales A, Morales R, Castro A, Ortiz JA, Lledo B, Ten J, Bernabeu A, Bernabeu R. Cascales A, et al. J Assist Reprod Genet. 2023 Oct;40(10):2317-2324. doi: 10.1007/s10815-023-02914-9. Epub 2023 Aug 18. J Assist Reprod Genet. 2023. PMID: 37592098
However, for the "paternal age" factor, no association with mosaicism was found (OR: 1.04; 95% CI: 0.90-1.21). CONCLUSIONS: With the present study, we can conclude that the factors related to the presence of mosaicism in embryos are the embryo biopsy day and materna …
However, for the "paternal age" factor, no association with mosaicism was found (OR: 1.04; 95% CI: 0.90-1.21). CONCLUSIONS: With the …
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Acosta-Baena N, Tejada-Moreno JA, Arcos-Burgos M, Villegas-Lanau CA. Acosta-Baena N, et al. Neurogenetics. 2022 Oct;23(4):231-240. doi: 10.1007/s10048-022-00700-w. Epub 2022 Nov 4. Neurogenetics. 2022. PMID: 36331689 Free PMC article. Review.
These mutations were de novo in 13 cases and one case of maternal germinal mosaicism. Two variants are in the same domain of the protein: Pro-Leu-Asp-Leu-Ser (PLDLS) C terminal. ...
These mutations were de novo in 13 cases and one case of maternal germinal mosaicism. Two variants are in the same domain of the prot …
Mosaicism in Patients With Colorectal Cancer or Polyposis Syndromes: A Systematic Review.
Jansen AML, Goel A. Jansen AML, et al. Clin Gastroenterol Hepatol. 2020 Aug;18(9):1949-1960. doi: 10.1016/j.cgh.2020.02.049. Epub 2020 Mar 5. Clin Gastroenterol Hepatol. 2020. PMID: 32147591 Free PMC article. Review.
We divided the final set of studies into 3 subgroups describing APC mosaicism, mosaicism in other CRC susceptibility genes, and epigenetic mosaicism. ...Heritable epigenetic mosaicism is likely underestimated and could have a dominant pattern of inheri …
We divided the final set of studies into 3 subgroups describing APC mosaicism, mosaicism in other CRC susceptibility genes, an …
Mosaic Neurofibromatosis Type 1: A Systematic Review.
García-Romero MT, Parkin P, Lara-Corrales I. García-Romero MT, et al. Pediatr Dermatol. 2016 Jan-Feb;33(1):9-17. doi: 10.1111/pde.12673. Epub 2015 Sep 4. Pediatr Dermatol. 2016. PMID: 26338194 Review.
Chromosomal mosaicism in human preimplantation embryos: a systematic review.
van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, Korevaar JC, Heineman MJ, van der Veen F, Repping S. van Echten-Arends J, et al. Hum Reprod Update. 2011 Sep-Oct;17(5):620-7. doi: 10.1093/humupd/dmr014. Epub 2011 Apr 29. Hum Reprod Update. 2011. PMID: 21531753 Review.
BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prevalence is still unknown. ...The main outcome of this classification was the prevalence of chromosomal mosaicism in human preimplantat …
BACKGROUND: Although chromosomal mosaicism in human preimplantation embryos has been described for almost two decades, its exact prev …
Preimplantation genetic screening: a systematic review and meta-analysis of RCTs.
Mastenbroek S, Twisk M, van der Veen F, Repping S. Mastenbroek S, et al. Hum Reprod Update. 2011 Jul-Aug;17(4):454-66. doi: 10.1093/humupd/dmr003. Epub 2011 Apr 29. Hum Reprod Update. 2011. PMID: 21531751 Review.
On the contrary, for women of advanced maternal age PGS significantly lowers the live birth rate. Technical drawbacks and chromosomal mosaicism underlie this inefficacy of PGS. New approaches in the application of PGS should be evaluated carefully before their introduction …
On the contrary, for women of advanced maternal age PGS significantly lowers the live birth rate. Technical drawbacks and chromosomal mos …
Molecular Basis of Müllerian Agenesis Causing Congenital Uterine Factor Infertility-A Systematic Review.
Dube R, Kar SS, Jhancy M, George BT. Dube R, et al. Int J Mol Sci. 2023 Dec 21;25(1):120. doi: 10.3390/ijms25010120. Int J Mol Sci. 2023. PMID: 38203291 Free PMC article. Review.
The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaicism....
The etiology of MA seems to be multifactorial and complex, involving multiple genes and mechanisms including various mutations and mosaic …
Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review.
Labrousse M, Kevorkian-Verguet C, Boursier G, Rowczenio D, Maurier F, Lazaro E, Aggarwal M, Lemelle I, Mura T, Belot A, Touitou I, Sarrabay G. Labrousse M, et al. Crit Rev Clin Lab Sci. 2018 Sep;55(6):432-442. doi: 10.1080/10408363.2018.1488805. Epub 2018 Jul 23. Crit Rev Clin Lab Sci. 2018. PMID: 30035647
We aim to address the extent to which mosaicism contributes to the etiology of AIDs and its impact on phenotype. ...We provide a comprehensive clinical and genetic picture of mosaicism in AIDs. We estimate that the proportion of CAPS-like patients presenting mosa …
We aim to address the extent to which mosaicism contributes to the etiology of AIDs and its impact on phenotype. ...We provide a comp …
Incidence, prevalence, age at diagnosis, and mortality in individuals with 45,X/46,XY mosaicism: A population-based registry study.
Stochholm K, Holmgård C, Davis SM, Gravholt CH, Berglund A. Stochholm K, et al. Genet Med. 2024 Jan;26(1):100987. doi: 10.1016/j.gim.2023.100987. Epub 2023 Sep 28. Genet Med. 2024. PMID: 37781900 Free article.
In addition, a systematic literature review of papers providing prevalence data of 45,X/46,XY mosaicism was performed. METHODS: A population-based epidemiological study of all individuals diagnosed with 45,X/46,XY mosaicism between 1960 and 2019. ...Diagnosis of mal …
In addition, a systematic literature review of papers providing prevalence data of 45,X/46,XY mosaicism was performed. METHODS: A pop …
28 results