Imaizumi T - Search Results

1

Efficacy and Blood Levels of Lacosamide in Patients with Focal Epilepsy.

Iwasaki T, Kobayashi T, Miyamoto Y, Imaizumi T, Kaku S, Udagawa N, Yamamoto H, Shimizu N. Iwasaki T, et al. Among authors: imaizumi t. J Clin Med. 2024 Nov 19;13(22):6958. doi: 10.3390/jcm13226958. J Clin Med. 2024. PMID: 39598103 Free PMC article.

2

Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction.

Imaizumi T, Yamamoto-Shimojima K, Yamamoto H, Yamamoto T. Imaizumi T, et al. Congenit Anom (Kyoto). 2020 Jan;60(1):10-14. doi: 10.1111/cga.12325. Epub 2019 Feb 20. Congenit Anom (Kyoto). 2020. PMID: 30684281

3

Breakpoint analysis for cytogenetically balanced translocation revealed unexpected complex structural abnormalities and suggested the position effect for MEF2C.

Tamura T, Shimojima Yamamoto K, Imaizumi T, Yamamoto H, Miyamoto Y, Yagasaki H, Morioka I, Kanno H, Yamamoto T. Tamura T, et al. Among authors: imaizumi t. Am J Med Genet A. 2023 Jun;191(6):1632-1638. doi: 10.1002/ajmg.a.63182. Epub 2023 Mar 14. Am J Med Genet A. 2023. PMID: 36916329

4

MCT8 deficiency in a patient with a novel frameshift variant in the SLC16A2 gene.

Wakabayashi K, Osaka H, Kojima K, Imaizumi T, Yamamoto T, Yamagata T. Wakabayashi K, et al. Among authors: imaizumi t. Hum Genome Var. 2021 Feb 16;8(1):10. doi: 10.1038/s41439-021-00142-0. Hum Genome Var. 2021. PMID: 33594047 Free PMC article.

5

De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.

Imaizumi T, Mogami Y, Okamoto N, Yamamoto-Shimojima K, Yamamoto T. Imaizumi T, et al. Congenit Anom (Kyoto). 2019 Nov;59(6):193-194. doi: 10.1111/cga.12322. Epub 2019 Jan 2. Congenit Anom (Kyoto). 2019. PMID: 30536491 No abstract available.

6

Genomic Copy Number Analysis Using Droplet Digital PCR: A Simple Method with EvaGreen Single-Color Fluorescent Design.

Tamura T, Imaizumi T, Shimojima Yamamoto K, Yamamoto T. Tamura T, et al. Among authors: imaizumi t. Methods Mol Biol. 2024;2794:293-304. doi: 10.1007/978-1-0716-3810-1_24. Methods Mol Biol. 2024. PMID: 38630238

7

Advantages of ddPCR in detection of PLP1 duplications.

Imaizumi T, Yamamoto-Shimojima K, Yamamoto T. Imaizumi T, et al. Intractable Rare Dis Res. 2019 Aug;8(3):198-202. doi: 10.5582/irdr.2019.01067. Intractable Rare Dis Res. 2019. PMID: 31523598 Free PMC article.

8

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Shimojima Yamamoto K, Yamamoto S, Imaizumi T, Kumada S, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: imaizumi t. Hum Genome Var. 2024 Aug 16;11(1):31. doi: 10.1038/s41439-024-00289-6. Hum Genome Var. 2024. PMID: 39152134 Free PMC article.

9

Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder.

Imaizumi T, Kumakura A, Yamamoto-Shimojima K, Ondo Y, Yamamoto T. Imaizumi T, et al. Intractable Rare Dis Res. 2018 Nov;7(4):245-250. doi: 10.5582/irdr.2018.01117. Intractable Rare Dis Res. 2018. PMID: 30560016 Free PMC article.

10

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: imaizumi t. Am J Med Genet A. 2020 Mar;182(3):521-526. doi: 10.1002/ajmg.a.61432. Epub 2019 Dec 10. Am J Med Genet A. 2020. PMID: 31821719

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