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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.
Johnston JJ, van der Smagt JJ, Rosenfeld JA, Pagnamenta AT, Alswaid A, Baker EH, Blair E, Borck G, Brinkmann J, Craigen W, Dung VC, Emrick L, Everman DB, van Gassen KL, Gulsuner S, Harr MH, Jain M, Kuechler A, Leppig KA, McDonald-McGinn DM, Can NTB, Peleg A, Roeder ER, Rogers RC, Sagi-Dain L, Sapp JC, Schäffer AA, Schanze D, Stewart H, Taylor JC, Verbeek NE, Walkiewicz MA, Zackai EH, Zweier C; Members of the Undiagnosed Diseases Network; Zenker M, Lee B, Biesecker LG. Johnston JJ, et al. Genet Med. 2018 Oct;20(10):1175-1185. doi: 10.1038/gim.2017.249. Epub 2018 Feb 22. Genet Med. 2018. PMID: 29469822 Free PMC article.
A good screening test: benefits and limitations.
Maya I, Salzer Sheelo L, Basel-Salmon L, Sagi-Dain L. Maya I, et al. Ultrasound Obstet Gynecol. 2023 Jun;61(6):783-784. doi: 10.1002/uog.26228. Ultrasound Obstet Gynecol. 2023. PMID: 37267098 No abstract available.
Fundal pressure: to avoid greater evil.
Sagi-Dain L, Maymon R. Sagi-Dain L, et al. Arch Gynecol Obstet. 2023 Dec;308(6):1911-1912. doi: 10.1007/s00404-022-06894-6. Epub 2023 Jan 3. Arch Gynecol Obstet. 2023. PMID: 36596988 No abstract available.
Activating MRAS mutations cause Noonan syndrome associated with hypertrophic cardiomyopathy.
Motta M, Sagi-Dain L, Krumbach OHF, Hahn A, Peleg A, German A, Lissewski C, Coppola S, Pantaleoni F, Kocherscheid L, Altmüller F, Schanze D, Logeswaran T, Chahrokh-Zadeh S, Munzig A, Nakhaei-Rad S, Cavé H, Ahmadian MR, Tartaglia M, Zenker M. Motta M, et al. Hum Mol Genet. 2020 Jul 21;29(11):1772-1783. doi: 10.1093/hmg/ddz108. Hum Mol Genet. 2020. PMID: 31108500
107 results