Below are the most recent publications written about "Mosaicism" by people in Profiles.
-
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.
-
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.
-
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.
-
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. PGDIS position statement on the transfer of mosaic embryos 2021. Reprod Biomed Online. 2022 07; 45(1):19-25.
-
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.
-
Li M, Glass J, Du X, Dubbs H, Harr MH, Falk M, Smolarek T, Hopkin RJ, Zackai E, Sheppard SE. Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines. Am J Med Genet A. 2021 08; 185(8):2374-2383.
-
Snyder EA, San Roman AK, Pi?a-Aguilar RE, Steeves MA, McNamara EA, Souter I, Hayes FJ, Levitsky LL, Lin AE. Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management. Eur J Med Genet. 2021 Mar; 64(3):104140.
-
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.
-
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.
-
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.