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NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty.
Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N, Suzuki E, Hata K, Nakabayashi K, Momozawa Y, Kubo M, Okamura K, Kure S, Matsubara Y, Ogata T, Narumi S, Fukami M. Shima H, et al. Among authors: suzuki e. Sex Dev. 2016;10(4):205-209. doi: 10.1159/000448726. Epub 2016 Sep 21. Sex Dev. 2016. PMID: 27648561
Genome-wide copy number analysis and systematic mutation screening in 58 patients with hypogonadotropic hypogonadism.
Izumi Y, Suzuki E, Kanzaki S, Yatsuga S, Kinjo S, Igarashi M, Maruyama T, Sano S, Horikawa R, Sato N, Nakabayashi K, Hata K, Umezawa A, Ogata T, Yoshimura Y, Fukami M. Izumi Y, et al. Among authors: suzuki e. Fertil Steril. 2014 Oct;102(4):1130-1136.e3. doi: 10.1016/j.fertnstert.2014.06.017. Epub 2014 Jul 23. Fertil Steril. 2014. PMID: 25064402 Free article.
Skeletal Deformity Associated with SHOX Deficiency.
Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, Fukami M. Seki A, et al. Among authors: suzuki e. Clin Pediatr Endocrinol. 2014 Jul;23(3):65-72. doi: 10.1297/cpe.23.65. Epub 2014 Aug 6. Clin Pediatr Endocrinol. 2014. PMID: 25110390 Free PMC article. Review.
Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients.
Kon M, Suzuki E, Dung VC, Hasegawa Y, Mitsui T, Muroya K, Ueoka K, Igarashi N, Nagasaki K, Oto Y, Hamajima T, Yoshino K, Igarashi M, Kato-Fukui Y, Nakabayashi K, Hayashi K, Hata K, Matsubara Y, Moriya K, Ogata T, Nonomura K, Fukami M. Kon M, et al. Among authors: suzuki e. Hum Reprod. 2015 Mar;30(3):499-506. doi: 10.1093/humrep/deu364. Epub 2015 Jan 20. Hum Reprod. 2015. PMID: 25605705
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: suzuki e. 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.
1,791 results