Taichi Imaizumi
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Explore the profile of Taichi Imaizumi including associated specialties, affiliations and a list of published articles.
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Articles
18
Citations
73
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Recent Articles
1.
Iwasaki T, Kobayashi T, Miyamoto Y, Imaizumi T, Kaku S, Udagawa N, et al.
J Clin Med
. 2024 Nov;
13(22).
PMID: 39598103
: The aim of this paper is to analyze clinical targets for lacosamide (LCM) blood levels in patients with focal epilepsy. Referring to the LCM optimal range will encourage us...
2.
Shimojima Yamamoto K, Yamamoto S, Imaizumi T, Kumada S, Yamamoto T
Hum Genome Var
. 2024 Aug;
11(1):31.
PMID: 39152134
Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were...
3.
Tamura T, Imaizumi T, Shimojima Yamamoto K, Yamamoto T
Methods Mol Biol
. 2024 Apr;
2794:293-304.
PMID: 38630238
Droplet digital PCR (ddPCR) is an emerging method for the absolute quantification of PCR products, and it can detect DNA copy numbers accurately. It analyzes the end-point absolute fluorescence signals...
4.
Tamura T, Shimojima Yamamoto K, Imaizumi T, Yamamoto H, Miyamoto Y, Yagasaki H, et al.
Am J Med Genet A
. 2023 Mar;
191(6):1632-1638.
PMID: 36916329
Many disease-causing genes have been identified by determining the breakpoints of balanced chromosomal translocations. Recent progress in genomic analysis has accelerated the analysis of chromosomal translocation-breakpoints at the nucleotide level....
5.
Wakabayashi K, Osaka H, Kojima K, Imaizumi T, Yamamoto T, Yamagata T
Hum Genome Var
. 2021 Feb;
8(1):10.
PMID: 33594047
MCT8 deficiency is an X-linked recessive disorder. We report the case of a 2-year-old Japanese boy with MCT8 deficiency caused by a novel frameshift variant, NM_006517.5(SLC16A2_v001):c.966dup [p.(Ile323Hisfs*57)]. He presented no...
6.
Yanagishita T, Imaizumi T, Yamamoto-Shimojima K, Yano T, Okamoto N, Nagata S, et al.
Hum Mutat
. 2020 Sep;
41(12):2119-2127.
PMID: 32906213
Chromosomal triplications can be classified into recurrent and nonrecurrent triplications. Most of the nonrecurrent triplications are embedded in duplicated segments, and duplication-inverted triplication-duplication (DUP-TRP/INV-DUP) has been established as one of...
7.
Fujita T, Ihara Y, Hayashi H, Ishii A, Ideguchi H, Inoue T, et al.
Congenit Anom (Kyoto)
. 2020 Jul;
60(6):189-193.
PMID: 32618029
Coffin-Siris syndrome (CSS) is a congenital anomaly syndrome characterized by developmental delay, coarse facial features, and hypoplasia of the fifth digit's nail or phalanges. Herein, we report a case of...
8.
Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Nishi E, Okamoto N, et al.
Hum Genet
. 2020 Jun;
139(12):1555-1563.
PMID: 32535809
The chromosomal region critical in Down syndrome has long been analyzed through genotype-phenotype correlation studies using data from many patients with partial trisomy 21. Owing to that, a relatively small...
9.
Yamamoto-Shimojima K, Ono H, Imaizumi T, Yamamoto T
Hum Genome Var
. 2020 Jun;
7:16.
PMID: 32509318
Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related...
10.
Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T
J Hum Genet
. 2020 May;
65(9):735-741.
PMID: 32355308
The widespread use of genomic copy number analysis has revealed many previously unknown genomic structural variations, including some which are more complex. In this study, three consecutive microdeletions were identified...