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1,673 results

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A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report.
Tsutsumi M, Hattori H, Akita N, Maeda N, Kubota T, Horibe K, Fujita N, Kawai M, Shinkai Y, Kato M, Kato T, Kawamura R, Suzuki F, Kurahashi H. Tsutsumi M, et al. Among authors: suzuki f. BMC Med Genomics. 2019 Dec 5;12(1):182. doi: 10.1186/s12920-019-0640-2. BMC Med Genomics. 2019. PMID: 31806026 Free PMC article.
A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.
Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M. Kawamura R, et al. Among authors: suzuki f. J Hum Genet. 2020 Aug;65(8):705-709. doi: 10.1038/s10038-020-0748-4. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277176 Free PMC article.
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications.
Kato T, Inagaki H, Miyai S, Suzuki F, Naru Y, Shinkai Y, Kato A, Kanyama K, Mizuno S, Muramatsu Y, Yamamoto T, Shinya M, Tazaki Y, Hiwatashi S, Ikeda T, Ozaki M, Kurahashi H. Kato T, et al. Among authors: suzuki f. Hum Genet. 2020 Nov;139(11):1417-1427. doi: 10.1007/s00439-020-02186-8. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488466
A Turner syndrome case associated with dic(Y;22).
Kawamura R, Inagaki H, Yamada M, Suzuki F, Naru Y, Kurahashi H. Kawamura R, et al. Among authors: suzuki f. Mol Cytogenet. 2021 Jul 8;14(1):34. doi: 10.1186/s13039-021-00556-z. Mol Cytogenet. 2021. PMID: 34238329 Free PMC article.
Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.
Toshimitsu M, Nagaoka S, Kobori S, Ogawa M, Suzuki F, Kato T, Miyai S, Kawamura R, Inagaki H, Kurahashi H, Murotsuki J. Toshimitsu M, et al. Among authors: suzuki f. Case Rep Obstet Gynecol. 2019 Oct 2;2019:6753184. doi: 10.1155/2019/6753184. eCollection 2019. Case Rep Obstet Gynecol. 2019. PMID: 31662930 Free PMC article.
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: suzuki f. Asian J Androl. 2019 Jan 1;21(1):101-103. doi: 10.4103/aja.aja_60_18. Asian J Androl. 2019. PMID: 30147084 Free PMC article. No abstract available.
Analysis of the Origin of Double Mosaic Aneuploidy in Two Cases.
Kato T, Kawai M, Miyai S, Suzuki F, Tsutsumi M, Mizuno S, Ikeda T, Kurahashi H. Kato T, et al. Among authors: suzuki f. Cytogenet Genome Res. 2020;160(3):118-123. doi: 10.1159/000507177. Epub 2020 Apr 4. Cytogenet Genome Res. 2020. PMID: 32248198
Clinical Impact and Significant Technical Points of Transarterial Chemoembolization (TACE) Using the Smaller Drug-Eluting Bead M1 (DC Bead M1™) for Hepatocellular Carcinoma: A Case Series.
Kawamura Y, Akuta N, Yamamoto S, Eriksson Y, Hosaka T, Saitoh S, Sezaki H, Suzuki F, Ikeda K, Kumada H. Kawamura Y, et al. Among authors: suzuki f. Cureus. 2024 Nov 25;16(11):e74415. doi: 10.7759/cureus.74415. eCollection 2024 Nov. Cureus. 2024. PMID: 39723267 Free PMC article.
1,673 results