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Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
Santos-Simarro F, Pacio M, Cueto-González AM, Mansilla E, Valenzuela-Palafoll MI, López-Grondona F, Lledín MD, Schuffelmann C, Del Pozo Á, Solis M, Vallcorba P, Lapunzina P, Menéndez Suso JJ, Siccha SM, Montejo JM, Mena R, Jiménez-Rodríguez C, García-Miñaúr S, Palomares-Bralo M. Santos-Simarro F, et al. Eur J Med Genet. 2021 Nov;64(11):104338. doi: 10.1016/j.ejmg.2021.104338. Epub 2021 Sep 7. Eur J Med Genet. 2021. PMID: 34500087 Review.
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, characterized by mosaic aneuploidies involving multiple chromosomes and tissues, caused by biallelic pathogenic variants in the CEP57 gene. ...
Mosaic Variegated Aneuploidy Syndrome 2 (MVA2; MIM 614114) is a rare autosomal recessive disorder, charac
A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.
Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY. Cho CH, et al. Ann Clin Lab Sci. 2015 Winter;45(1):106-9. Ann Clin Lab Sci. 2015. PMID: 25696020 Review.
In a quadruple screening test performed at the 15(th) week of gestation, alpha fetoprotein was 73.4 IU/mL (2.792 MoM), suggesting that she was at high risk of neural tube defect. Following amniocentesis performed at the 17 weeks' gestation, chromosome examination of amnioc …
In a quadruple screening test performed at the 15(th) week of gestation, alpha fetoprotein was 73.4 IU/mL (2.792 MoM), suggesting tha …
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.
Hook EB, Warburton D. Hook EB, et al. Hum Genet. 2014 Apr;133(4):417-24. doi: 10.1007/s00439-014-1420-x. Epub 2014 Jan 30. Hum Genet. 2014. PMID: 24477775 Review.
Our primary conclusions are 1) all 45,X individuals with Turner syndrome are cryptic mosaics, 2) absence of the X chromosome in 45,X embryos is caused primarily by mitotic factors, and 3) the placenta is a strong candidate for the location of the rescue line in apparently …
Our primary conclusions are 1) all 45,X individuals with Turner syndrome are cryptic mosaics, 2) absence of the X chromosome in 45,X …