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Automated syndrome diagnosis by three-dimensional facial imaging.
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Hallgrímsson B, et al. Among authors: davis sm. Genet Med. 2020 Oct;22(10):1682-1693. doi: 10.1038/s41436-020-0845-y. Epub 2020 Jun 1. Genet Med. 2020. PMID: 32475986 Free PMC article.
A new look at XXYY syndrome: medical and psychological features.
Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, Fenton L, Albrecht L, Ross J, Visootsak J, Hansen R, Hagerman R. Tartaglia N, et al. Am J Med Genet A. 2008 Jun 15;146A(12):1509-22. doi: 10.1002/ajmg.a.32366. Am J Med Genet A. 2008. PMID: 18481271 Free PMC article.
Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.
Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J. Tartaglia N, et al. Am J Med Genet C Semin Med Genet. 2020 Jun;184(2):428-443. doi: 10.1002/ajmg.c.31807. Epub 2020 Jun 7. Am J Med Genet C Semin Med Genet. 2020. PMID: 32506668 Free PMC article. Review.
869 results