Miyai S - Search Results

1

Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease.

Mariya T, Shichiri Y, Sugimoto T, Kawamura R, Miyai S, Inagaki H, Sugihara E, Ikeda K, Baba T, Ishikawa A, Ammae M, Nakaoka Y, Saito T, Sakurai A, Kurahashi H. Mariya T, et al. Among authors: miyai s. Prenat Diagn. 2023 Mar;43(3):304-313. doi: 10.1002/pd.6334. Epub 2023 Feb 24. Prenat Diagn. 2023. PMID: 36797813

2

Target enrichment long-read sequencing with adaptive sampling can determine the structure of the small supernumerary marker chromosomes.

Mariya T, Kato T, Sugimoto T, Miyai S, Inagaki H, Ohye T, Sugihara E, Muramatsu Y, Mizuno S, Kurahashi H. Mariya T, et al. Among authors: miyai s. J Hum Genet. 2022 Jun;67(6):363-368. doi: 10.1038/s10038-021-01004-x. Epub 2022 Jan 14. J Hum Genet. 2022. PMID: 35027654

3

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: miyai s. Hum Genet. 2020 Nov;139(11):1417-1427. doi: 10.1007/s00439-020-02186-8. Epub 2020 Jun 2. Hum Genet. 2020. PMID: 32488466

4

Mitochondrial DNA mutations can influence the post-implantation development of human mosaic embryos.

Ijuin A, Ueno H, Hayama T, Miyai S, Miyakoshi A, Hamada H, Sueyoshi S, Tochihara S, Saito M, Hamanoue H, Takeshima T, Yumura Y, Miyagi E, Kurahashi H, Sakakibara H, Murase M. Ijuin A, et al. Among authors: miyai s. Front Cell Dev Biol. 2023 Aug 11;11:1215626. doi: 10.3389/fcell.2023.1215626. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37635871 Free PMC article.

5

Transport and Golgi organization 2 deficiency with a prominent elevation of C14:1 during a metabolic crisis: A case report.

Yokoi K, Nakajima Y, Takahashi Y, Hamajima T, Tajima G, Saito K, Miyai S, Inagaki H, Yoshikawa T, Kurahashi H, Ito T. Yokoi K, et al. Among authors: miyai s. JIMD Rep. 2022 Oct 27;64(1):3-9. doi: 10.1002/jmd2.12275. eCollection 2023 Jan. JIMD Rep. 2022. PMID: 36636595 Free PMC article.

6

The effect of early irregular cell division of human embryos on blastocyst euploidy: considerations from the subsequent development of the blastomeres by direct or reverse cleavage.

Watanabe S, Yoshikai K, Matsuda Y, Miyai S, Sawada Y, Kurahashi H, Sawada T. Watanabe S, et al. Among authors: miyai s. F S Sci. 2023 Feb;4(1):21-29. doi: 10.1016/j.xfss.2022.11.001. Epub 2022 Nov 19. F S Sci. 2023. PMID: 36410651

7

Novel compound heterozygous mutations in the PLEC gene in a neonate with epidermolysis bullosa simplex with pyloric atresia.

Kaneyasu H, Takahashi K, Ohta N, Okada S, Kimura S, Yasuno S, Murata S, Katsura S, Yamada N, Shiraishi K, Tsuda J, Miyai S, Kurahashi H, Hasegawa S, Shimomura Y. Kaneyasu H, et al. Among authors: miyai s. J Dermatol. 2023 Feb;50(2):239-244. doi: 10.1111/1346-8138.16553. Epub 2022 Aug 23. J Dermatol. 2023. PMID: 35996939

8

Novel large deletion involving EVC and EVC2 in Ellis-van Creveld syndrome.

Sato H, Suga K, Suzue M, Honma Y, Hayabuchi Y, Miyai S, Kurahashi H, Nakagawa R. Sato H, et al. Among authors: miyai s. Hum Genome Var. 2022 May 17;9(1):15. doi: 10.1038/s41439-022-00190-0. Hum Genome Var. 2022. PMID: 35581188 Free PMC article.

9

Usefulness of combined NGS and QF-PCR analysis for product of conception karyotyping.

Kato T, Miyai S, Suzuki H, Murase Y, Ota S, Yamauchi H, Ammae M, Nakano T, Nakaoka Y, Inoue T, Morimoto Y, Fukuda A, Utsunomiya T, Nishizawa H, Kurahashi H. Kato T, et al. Among authors: miyai s. Reprod Med Biol. 2022 Feb 27;21(1):e12449. doi: 10.1002/rmb2.12449. eCollection 2022 Jan-Dec. Reprod Med Biol. 2022. PMID: 35386384 Free PMC article.

10

Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex.

Muto Y, Sasaki H, Sumitomo M, Inagaki H, Kato M, Kato T, Miyai S, Kurahashi H, Shiroki R. Muto Y, et al. Among authors: miyai s. Hum Genome Var. 2022 Feb 10;9(1):5. doi: 10.1038/s41439-022-00181-1. Hum Genome Var. 2022. PMID: 35145067 Free PMC article.

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