Miyai S - Search Results

1

Exome-First Approach in Fetal Akinesia Reveals Chromosome 1p36 Deletion Syndrome.

Toshimitsu M, Nagaoka S, Kobori S, Ogawa M, Suzuki F, Kato T, Miyai S, Kawamura R, Inagaki H, Kurahashi H, Murotsuki J. Toshimitsu M, et al. Among authors: miyai s. Case Rep Obstet Gynecol. 2019 Oct 2;2019:6753184. doi: 10.1155/2019/6753184. eCollection 2019. Case Rep Obstet Gynecol. 2019. PMID: 31662930 Free PMC article.

2

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: miyai s. Cytogenet Genome Res. 2020;160(3):118-123. doi: 10.1159/000507177. Epub 2020 Apr 4. Cytogenet Genome Res. 2020. PMID: 32248198

3

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia.

Kawamura R, Kato T, Miyai S, Suzuki F, Naru Y, Kato M, Tanaka K, Nagasaka M, Tsutsumi M, Inagaki H, Ioroi T, Yoshida M, Nao T, Conlin LK, Iijima K, Kurahashi H, Taniguchi-Ikeda M. Kawamura R, et al. Among authors: miyai s. J Hum Genet. 2020 Aug;65(8):705-709. doi: 10.1038/s10038-020-0748-4. Epub 2020 Apr 10. J Hum Genet. 2020. PMID: 32277176 Free PMC article.

4

Incontinentia pigmenti in a female infant with somatic mosaicism due to the IKBKG variant.

Shibata K, Kunisada M, Miyai S, Kawamori S, Kurahashi H, Nishigori C. Shibata K, et al. Among authors: miyai s. J Dermatol. 2021 Dec;48(12):e577-e578. doi: 10.1111/1346-8138.16141. Epub 2021 Sep 3. J Dermatol. 2021. PMID: 34480359 No abstract available.

5

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.

6

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.

7

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.

8

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

9

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

10

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.

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