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Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.
Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. Among authors: nakai h. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095
Mutational Analysis of Androgen Receptor (AR) Gene in 46,XY Patients with Ambiguous Genitalia and Normal Testosterone Secretion: Endocrinological Characteristics of Three Patients with AR Gene Mutations.
Miyamoto J, Asanuma H, Nakai H, Hasegawa T, Nawata H, Hasegawa Y. Miyamoto J, et al. Among authors: nakai h. Clin Pediatr Endocrinol. 2006;15(4):151-62. doi: 10.1297/cpe.15.151. Epub 2006 Nov 3. Clin Pediatr Endocrinol. 2006. PMID: 24790336 Free PMC article.
STX2 is a causative gene for nonobstructive azoospermia.
Nakamura S, Kobori Y, Ueda Y, Tanaka Y, Ishikawa H, Yoshida A, Katsumi M, Saito K, Nakamura A, Ogata T, Okada H, Nakai H, Miyado M, Fukami M. Nakamura S, et al. Among authors: nakai h. Hum Mutat. 2018 Jun;39(6):830-833. doi: 10.1002/humu.23423. Epub 2018 Apr 10. Hum Mutat. 2018. PMID: 29570232
Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations.
Nakamura S, Miyado M, Saito K, Katsumi M, Nakamura A, Kobori Y, Tanaka Y, Ishikawa H, Yoshida A, Okada H, Hata K, Nakabayashi K, Okamura K, Ogata H, Matsubara Y, Ogata T, Nakai H, Fukami M. Nakamura S, et al. Among authors: nakai h. Andrology. 2017 Jul;5(4):824-831. doi: 10.1111/andr.12378. Andrology. 2017. PMID: 28718531 Free article.
Insignificant impact of VUR on the progression of CKD in children with CAKUT.
Ishikura K, Uemura O, Hamasaki Y, Nakai H, Ito S, Harada R, Hattori M, Ohashi Y, Tanaka R, Nakanishi K, Kaneko T, Iijima K, Honda M; Pediatric CKD Study Group in Japan in conjunction with the Committee of Measures for Pediatric CKD of the Japanese Society for Pediatric Nephrology. Ishikura K, et al. Among authors: nakai h. Pediatr Nephrol. 2016 Jan;31(1):105-12. doi: 10.1007/s00467-015-3196-1. Epub 2015 Sep 24. Pediatr Nephrol. 2016. PMID: 26404649
1,168 results