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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. Among authors: igarashi m. 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.
Fertility preservation in a family with a novel NR5A1 mutation.
Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y. Yagi H, et al. Among authors: igarashi m. Endocr J. 2015;62(3):289-95. doi: 10.1507/endocrj.EJ14-0340. Epub 2014 Dec 12. Endocr J. 2015. PMID: 25502990 Free article.
The p.R92W variant of NR5A1/Nr5a1 induces testicular development of 46,XX gonads in humans, but not in mice: phenotypic comparison of human patients and mutation-induced mice.
Miyado M, Inui M, Igarashi M, Katoh-Fukui Y, Takasawa K, Hakoda A, Kanno J, Kashimada K, Miyado K, Tamano M, Ogata T, Takada S, Fukami M. Miyado M, et al. Among authors: igarashi m. Biol Sex Differ. 2016 Nov 8;7:56. doi: 10.1186/s13293-016-0114-6. eCollection 2016. Biol Sex Differ. 2016. PMID: 27833742 Free PMC article.
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. Among authors: igarashi m, igarashi a. 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.
1,887 results