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Testicular dysgenesis/regression without campomelic dysplasia in patients carrying missense mutations and upstream deletion of SOX9.
Katoh-Fukui Y, Igarashi M, Nagasaki K, Horikawa R, Nagai T, Tsuchiya T, Suzuki E, Miyado M, Hata K, Nakabayashi K, Hayashi K, Matsubara Y, Baba T, Morohashi K, Igarashi A, Ogata T, Takada S, Fukami M. Katoh-Fukui Y, et al. Mol Genet Genomic Med. 2015 Jul 14;3(6):550-7. doi: 10.1002/mgg3.165. eCollection 2015 Nov. Mol Genet Genomic Med. 2015. PMID: 26740947 Free PMC article.
MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.
Hamanaka K, Takata A, Uchiyama Y, Miyatake S, Miyake N, Mitsuhashi S, Iwama K, Fujita A, Imagawa E, Alkanaq AN, Koshimizu E, Azuma Y, Nakashima M, Mizuguchi T, Saitsu H, Wada Y, Minami S, Katoh-Fukui Y, Masunaga Y, Fukami M, Hasegawa T, Ogata T, Matsumoto N. Hamanaka K, et al. Hum Mol Genet. 2019 Jul 15;28(14):2319-2329. doi: 10.1093/hmg/ddz066. Hum Mol Genet. 2019. PMID: 30985895
Role of Liquid-Liquid Separation in Endocrine and Living Cells.
Akiba K, Katoh-Fukui Y, Yoshida K, Narumi S, Miyado M, Hasegawa Y, Fukami M. Akiba K, et al. Among authors: katoh fukui y. J Endocr Soc. 2021 Jul 19;5(10):bvab126. doi: 10.1210/jendso/bvab126. eCollection 2021 Oct 1. J Endocr Soc. 2021. PMID: 34396024 Free PMC article. Review.
A novel C-terminal truncating NR5A1 mutation in dizygotic twins.
Hattori A, Zukeran H, Igarashi M, Toguchi S, Toubaru Y, Inoue T, Katoh-Fukui Y, Fukami M. Hattori A, et al. Hum Genome Var. 2017 Mar 16;4:17008. doi: 10.1038/hgv.2017.8. eCollection 2017. Hum Genome Var. 2017. PMID: 28326187 Free PMC article.
47 results