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Page 1
Long-term clinical course of Heyn-Sproul-Jackson syndrome.
Futagawa H, Ito S, Kosaki K, Yoshihashi H. Futagawa H, et al. Congenit Anom (Kyoto). 2023 Sep;63(5):174-175. doi: 10.1111/cga.12532. Epub 2023 Jul 30. Congenit Anom (Kyoto). 2023. PMID: 37517811 No abstract available.
Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome.
Nishio Y, Kato K, Tran Mau-Them F, Futagawa H, Quélin C, Masuda S, Vitobello A, Otsuji S, Shawki HH, Oishi H, Thauvin-Robinet C, Takenouchi T, Kosaki K, Takahashi Y, Saitoh S. Nishio Y, et al. Among authors: futagawa h. HGG Adv. 2023 Oct 12;4(4):100238. doi: 10.1016/j.xhgg.2023.100238. Epub 2023 Sep 14. HGG Adv. 2023. PMID: 37710961 Free PMC article.
Recurrent NFIA K125E substitution represents a loss-of-function allele: Sensitive in vitro and in vivo assays for nontruncating alleles.
Uehara T, Sanuki R, Ogura Y, Yokoyama A, Yoshida T, Futagawa H, Yoshihashi H, Yamada M, Suzuki H, Takenouchi T, Matsubara K, Hirata H, Kosaki K, Takano-Shimizu T. Uehara T, et al. Among authors: futagawa h. Am J Med Genet A. 2021 Jul;185(7):2084-2093. doi: 10.1002/ajmg.a.62226. Epub 2021 May 11. Am J Med Genet A. 2021. PMID: 33973697 Free PMC article.
16 results