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Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Hattori A, Katoh-Fukui Y, Nakamura A, Matsubara K, Kamimaki T, Tanaka H, Dateki S, Adachi M, Muroya K, Yoshida S, Ida S, Mitani M, Nagasaki K, Ogata T, Suzuki E, Hata K, Nakabayashi K, Matsubara Y, Narumi S, Tanaka T, Fukami M. Hattori A, et al. Among authors: kamimaki t. Endocr J. 2017 Oct 28;64(10):947-954. doi: 10.1507/endocrj.EJ17-0150. Epub 2017 Aug 3. Endocr J. 2017. PMID: 28768959 Free article.
Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.
Shima H, Tanaka T, Kamimaki T, Dateki S, Muroya K, Horikawa R, Kanno J, Adachi M, Naiki Y, Tanaka H, Mabe H, Yagasaki H, Kure S, Matsubara Y, Tajima T, Kashimada K, Ishii T, Asakura Y, Fujiwara I, Soneda S, Nagasaki K, Hamajima T, Kanzaki S, Jinno T, Ogata T, Fukami M; Japanese SHOX study group. Shima H, et al. Among authors: kamimaki t. J Hum Genet. 2016 Jul;61(7):585-91. doi: 10.1038/jhg.2016.18. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984564
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic Alterations.
Suzuki E, Shima H, Toki M, Hanew K, Matsubara K, Kurahashi H, Narumi S, Ogata T, Kamimaki T, Fukami M. Suzuki E, et al. Among authors: kamimaki t. Cytogenet Genome Res. 2016;150(2):86-92. doi: 10.1159/000455026. Epub 2017 Jan 19. Cytogenet Genome Res. 2016. PMID: 28099951
A case report and literature review of monoallelic mutation of GHR.
Mitani M, Shima H, Sato T, Inoguchi T, Kamimaki T, Fukami M, Hasegawa T. Mitani M, et al. Among authors: kamimaki t. J Pediatr Endocrinol Metab. 2019 Apr 24;32(4):415-419. doi: 10.1515/jpem-2018-0365. J Pediatr Endocrinol Metab. 2019. PMID: 30893054 Review.
Human Chorionic Gonadotropin Stimulation Test in Prepubertal Children with Micropenis Can Accurately Predict Leydig Cell Function in Pubertal or Postpubertal Adolescents.
Ishii T, Matsuo N, Sato S, Ogata T, Tamai S, Anzo M, Kamimaki T, Sasaki G, Inokuchi M, Hori N, Amano N, Narumi S, Shibata H, Hasegawa T. Ishii T, et al. Among authors: kamimaki t. Horm Res Paediatr. 2015;84(5):305-10. doi: 10.1159/000439234. Epub 2015 Sep 10. Horm Res Paediatr. 2015. PMID: 26352728
21 results