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A constitutional jumping translocation involving the Y and acrocentric chromosomes.
Tsutsumi M, Fujita N, Suzuki F, Mishima T, Fujieda S, Watari M, Takahashi N, Tonoki H, Moriwaka O, Endo T, Kurahashi H. Tsutsumi M, et al. Among authors: tonoki h. Asian J Androl. 2018 Aug 17;21(1):101-3. doi: 10.4103/aja.aja_60_18. Online ahead of print. Asian J Androl. 2018. PMID: 30147084 Free PMC article. No abstract available.
Miller-Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by fluorescence in situ hybridization and G-banding analysis using high resolution banding technique.
Mishima T, Watari M, Iwaki Y, Nagai T, Kawamata-Nakamura M, Kobayashi Y, Fujieda S, Oikawa M, Takahashi N, Keira M, Yoshida H, Tonoki H. Mishima T, et al. Among authors: tonoki h. Congenit Anom (Kyoto). 2017 Mar;57(2):61-63. doi: 10.1111/cga.12193. Congenit Anom (Kyoto). 2017. PMID: 27644460
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
Hishimura N, Watari M, Ohata H, Fuseya N, Wakiguchi S, Tokutomi T, Okuhara K, Takahashi N, Iizuka S, Yamamoto H, Mishima T, Fujieda S, Kobayashi R, Cho K, Kuroda Y, Kurosawa K, Tonoki H. Hishimura N, et al. Among authors: tonoki h. Clin Case Rep. 2016 Nov 17;5(1):5-8. doi: 10.1002/ccr3.738. eCollection 2017 Jan. Clin Case Rep. 2016. PMID: 28096980 Free PMC article.
A case of 45,X/47,XXX mosaic Turner syndrome with limb length discrepancy.
Hishimura-Yonemaru N, Okuhara K, Takahashi N, Tonoki H, Iizuka S, Tajima T. Hishimura-Yonemaru N, et al. Among authors: tonoki h. Clin Pediatr Endocrinol. 2017;26(4):259-263. doi: 10.1297/cpe.26.259. Epub 2017 Sep 28. Clin Pediatr Endocrinol. 2017. PMID: 29026275 Free PMC article.
Refractory sacrococcygeal germ cell tumor in Schinzel-Giedion syndrome.
Kishimoto K, Kobayashi R, Yonemaru N, Yamamoto H, Tsujioka T, Sano H, Suzuki D, Yasuda K, Suzuki M, Ando A, Tonoki H, Iizuka S, Uetake K, Kobayashi K. Kishimoto K, et al. Among authors: tonoki h. J Pediatr Hematol Oncol. 2015 May;37(4):e238-41. doi: 10.1097/MPH.0000000000000236. J Pediatr Hematol Oncol. 2015. PMID: 25171454
94 results