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Page 1
Mutation update for the SATB2 gene.
Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Miñaúr S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Zarate YA, et al. Among authors: orlando v. Hum Mutat. 2019 Aug;40(8):1013-1029. doi: 10.1002/humu.23771. Epub 2019 Jun 18. Hum Mutat. 2019. PMID: 31021519 Free article. Review.
Fetal First-trimester Cystic Hygroma as the Prenatal Presenting Feature of ASCC1-Related Spinal Muscular Atrophy with Bone Fractures 2.
Guadagnolo D, Mastromoro G, Hashemian NK, Orlando V, Lepri FR, D'Alberti E, Giancotti A, Novelli A, Pizzuti A. Guadagnolo D, et al. Among authors: orlando v. J Obstet Gynaecol Can. 2023 Aug;45(8):558-559. doi: 10.1016/j.jogc.2023.05.004. Epub 2023 May 17. J Obstet Gynaecol Can. 2023. PMID: 37201580 No abstract available.
8p23.1 deletion: Look out for left ventricular hypertrabeculation and not only congenital heart diseases. Single-center experience and literature revision.
Cicenia M, Alesi V, Orlando V, Magliozzi M, Di Tommaso S, Iodice FG, Pompei E, Toscano A, Digilio MC, Drago F, Novelli A, Baban A. Cicenia M, et al. Among authors: orlando v. Am J Med Genet A. 2022 Mar;188(3):883-895. doi: 10.1002/ajmg.a.62598. Epub 2021 Dec 13. Am J Med Genet A. 2022. PMID: 34897976
18 results