Imaizumi T - Search Results

1

Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome.

Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Nishi E, Okamoto N, Yamamoto T. Imaizumi T, et al. Hum Genet. 2020 Dec;139(12):1555-1563. doi: 10.1007/s00439-020-02196-6. Epub 2020 Jun 13. Hum Genet. 2020. PMID: 32535809

2

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Among authors: imaizumi t. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

3

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.

4

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.

5

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

6

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: imaizumi t. J Hum Genet. 2019 Jul;64(7):665-671. doi: 10.1038/s10038-019-0600-x. Epub 2019 Apr 19. J Hum Genet. 2019. PMID: 31004103

7

Sequential radiologic findings in osteopathia striata with cranial sclerosis.

Tomita Y, Chong PF, Yamamoto T, Akamine S, Imaizumi T, Kira R. Tomita Y, et al. Among authors: imaizumi t. Diagn Interv Imaging. 2019 Sep;100(9):529-531. doi: 10.1016/j.diii.2019.04.001. Epub 2019 Apr 25. Diagn Interv Imaging. 2019. PMID: 31031202 Free article. No abstract available.

8

Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.

Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Lu Y, Yanagishita T, Shimada S, Chong PF, Kira R, Ueda R, Ishiyama A, Takeshita E, Momosaki K, Ozasa S, Akiyama T, Kobayashi K, Oomatsu H, Kitahara H, Yamaguchi T, Imai K, Kurahashi H, Okumura A, Oguni H, Seto T, Okamoto N. Yamamoto T, et al. Among authors: imaizumi t. Brain Dev. 2019 Oct;41(9):776-782. doi: 10.1016/j.braindev.2019.05.007. Epub 2019 Jun 4. Brain Dev. 2019. PMID: 31171384

9

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.

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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