Below are the most recent publications written about "Mosaicism" by people in Profiles.
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Klamut N, Bothwell S, Carl AE, Bamba V, Law JR, Brickman WJ, Klein KO, Kanakatti Shankar R, Pinnaro CT, Fechner PY, Prakash SK, Gutmark-Little I, Howell S, Tartaglia N, Good M, Ranallo KC, Davis SM. Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry. Am J Med Genet A. 2024 12; 194(12):e63819.
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Nriagu BN, Williams LS, Brewer N, Surrey LF, Srinivasan AS, Li D, Britt A, Treat J, Crowley TB, O'Connor N, Ganguly A, Low D, Queenan M, Drivas TG, Zackai EH, Adams DM, Hakonarson H, Snyder KM, Sheppard SE. Microcystic lymphatic malformations in Turner syndrome are due to somatic mosaicism of PIK3CA. Am J Med Genet A. 2024 01; 194(1):64-69.
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Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR. On the reproductive capabilities of aneuploid human preimplantation embryos. Am J Hum Genet. 2022 09 01; 109(9):1572-1581.
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Kim J, Tao X, Cheng M, Steward A, Guo V, Zhan Y, Scott RT, Jalas C. The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy. Fertil Steril. 2022 02; 117(2):315-323.
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Shahbazi MN, Wang T, Tao X, Weatherbee BAT, Sun L, Zhan Y, Keller L, Smith GD, Pellicer A, Scott RT, Seli E, Zernicka-Goetz M. Developmental potential of aneuploid human embryos cultured beyond implantation. Nat Commun. 2020 08 10; 11(1):3987.
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Pontoriero F, Silverman AM, Pascasio JM, Bajaj R. Nonkeratinizing Nasopharyngeal Carcinoma, Undifferentiated Type With Trisomy 2: A Case Report and Short Review of Cytogenetic and Molecular Literature. Pediatr Dev Pathol. 2020 Nov-Dec; 23(6):448-452.
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Saeidian AH, Cohen-Nowak A, O'Donnell M, Shalabi D, McGuinn KP, Youssefian L, Vahidnezhad H, Niaziorimi F, Dasgeb B, Kasper DA, Lee JB, Uitto J, Nikbakht N. Linear basal cell nevus with a novel mosaic PTCH1 mutation. Exp Dermatol. 2020 06; 29(6):531-534.
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Twaroski K, Eide C, Riddle MJ, Xia L, Lees CJ, Chen W, Mathews W, Keene DR, McGrath JA, Tolar J. Revertant mosaic fibroblasts in recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2019 12; 181(6):1247-1253.
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Blakey-Cheung S, Parker P, Schlaff W, Monseur B, Keppler-Noreuil K, Al-Kouatly HB. Diagnosis and clinical delineation of mosaic tetrasomy 5p. Eur J Med Genet. 2020 Jan; 63(1):103634.
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Forman EJ. Demystifying "mosaic" outcomes. Fertil Steril. 2019 02; 111(2):253.