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Late-onset cerebral arteriopathy in a patient with incontinentia pigmenti.
Kanai S, Okanishi T, Kawai M, Yoshino G, Tsubouchi Y, Nishimura Y, Sakuma H, Kurahashi H, Maegaki Y. Kanai S, et al. Among authors: kurahashi h. Brain Dev. 2021 Apr;43(4):580-584. doi: 10.1016/j.braindev.2020.12.015. Epub 2021 Jan 5. Brain Dev. 2021. PMID: 33419638
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: kurahashi h. 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.
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: kurahashi h. Cytogenet Genome Res. 2020;160(3):118-123. doi: 10.1159/000507177. Epub 2020 Apr 4. Cytogenet Genome Res. 2020. PMID: 32248198
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: kurahashi h. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
449 results