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Page 1
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Fiordaliso SK, et al. Among authors: vlckova m. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587868 Free PMC article.
Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z. Mejstríková E, et al. Among authors: vlckova m. Pediatrics. 2012 Feb;129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23. Pediatrics. 2012. PMID: 22271700
Monozygotic twins with 17q21.31 microdeletion syndrome.
Vlckova M, Hancarova M, Drabova J, Slamova Z, Koudova M, Alanova R, Mannik K, Kurg A, Sedlacek Z. Vlckova M, et al. Twin Res Hum Genet. 2014 Oct;17(5):405-10. doi: 10.1017/thg.2014.29. Epub 2014 Jun 9. Twin Res Hum Genet. 2014. PMID: 24909117
Deletions of 9q21.3 including NTRK2 are associated with severe phenotype.
Hancarova M, Puchmajerova A, Drabova J, Karaskova E, Vlckova M, Sedlacek Z. Hancarova M, et al. Among authors: vlckova m. Am J Med Genet A. 2015 Jan;167A(1):264-7. doi: 10.1002/ajmg.a.36797. Epub 2014 Oct 27. Am J Med Genet A. 2015. PMID: 25348648 No abstract available.
98 results