Ishihara Y - Search Results

1

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis.

Eto K, Machida O, Yanagishita T, Shimojima Yamamoto K, Chiba K, Aihara Y, Hasegawa Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Nagata S, Yamamoto T. Eto K, et al. Among authors: ishihara y. Hum Genome Var. 2022 Dec 5;9(1):43. doi: 10.1038/s41439-022-00220-x. Hum Genome Var. 2022. PMID: 36470856 Free PMC article.

2

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.

Yanagishita T, Eto K, Yamamoto-Shimojima K, Segawa O, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Nagata S, Yamamoto T. Yanagishita T, et al. Among authors: ishihara y. Hum Genome Var. 2021 May 6;8(1):16. doi: 10.1038/s41439-021-00148-8. Hum Genome Var. 2021. PMID: 33958584 Free PMC article.

3

HECW2-related disorder in four Japanese patients.

Yanagishita T, Hirade T, Shimojima Yamamoto K, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: ishihara y. Am J Med Genet A. 2021 Oct;185(10):2895-2902. doi: 10.1002/ajmg.a.62363. Epub 2021 May 28. Am J Med Genet A. 2021. PMID: 34047014

4

Corrigendum to "HECW2-related disorder in four Japanese patients. Am J Med Genet Part A. First published: 28 May 2021 https://doi.org/10.1002/ajmg.a.62363".

Yanagishita T, Hirade T, Yamamoto KS, Funatsuka M, Miyamoto Y, Maeda M, Yanagi K, Kaname T, Nagata S, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Kosaki K, Yamamoto T. Yanagishita T, et al. Among authors: ishihara y. Am J Med Genet A. 2021 Dec;185(12):3926-3927. doi: 10.1002/ajmg.a.62414. Epub 2021 Jul 10. Am J Med Genet A. 2021. PMID: 34245093 No abstract available.

5

Recurrent de novo pathogenic variant of WASF1 in a Japanese patient with neurodevelopmental disorder with absent language and variable seizures.

Shimojima Yamamoto K, Yanagishita T, Yamamoto H, Miyamoto Y, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Sakata Y, Yamamoto T. Shimojima Yamamoto K, et al. Among authors: ishihara y. Hum Genome Var. 2021 Nov 29;8(1):43. doi: 10.1038/s41439-021-00176-4. Hum Genome Var. 2021. PMID: 34845217 Free PMC article.

6

A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.

Sofronova V, Fukushima Y, Masuno M, Naka M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Moriwaki T, Iwata R, Terawaki S, Yamanouchi Y, Otomo T. Sofronova V, et al. Among authors: ishihara y. Hum Genome Var. 2022 Jul 25;9(1):26. doi: 10.1038/s41439-022-00203-y. Hum Genome Var. 2022. PMID: 35879281 Free PMC article.

7

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4.

Takeyari S, Yamamoto K, Fujiwara M, Ohata Y, Kitaoka T, Kubota T, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Ozono K. Takeyari S, et al. Among authors: ishihara y. Clin Pediatr Endocrinol. 2023;32(2):105-109. doi: 10.1297/cpe.2022-0076. Epub 2023 Feb 10. Clin Pediatr Endocrinol. 2023. PMID: 37020696 Free PMC article.

8

Craniofacial and dental characteristics of three Japanese individuals with genetically diagnosed SATB2-associated syndrome.

Kurosaka H, Yamamoto S, Hirasawa K, Yanagishita T, Fujioka K, Yagasaki H, Nagata M, Ishihara Y, Yonei A, Asano Y, Nagata N, Tsujimoto T, Inubushi T, Yamamoto T, Sakai N, Yamashiro T. Kurosaka H, et al. Among authors: ishihara y. Am J Med Genet A. 2023 Jul;191(7):1984-1989. doi: 10.1002/ajmg.a.63225. Epub 2023 May 4. Am J Med Genet A. 2023. PMID: 37141439

9

A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.

Moriwaki T, Masuno M, Nagata M, Ishihara Y, Miyashita Y, Asano Y, Takao K, Tawa K, Yamanouchi Y, Miki A, Otomo T. Moriwaki T, et al. Among authors: ishihara y. Hum Genome Var. 2023 Oct 16;10(1):27. doi: 10.1038/s41439-023-00255-8. Hum Genome Var. 2023. PMID: 37845262 Free PMC article.

10

Human leukocyte antigen-DQ risk heterodimeric haplotypes of left ventricular dysfunction in cardiac sarcoidosis: an autoimmune view of its role.

Yamamoto H, Miyashita Y, Minamiguchi H, Hosomichi K, Yoshida S, Kioka H, Shinomiya H, Nagata H, Onoue K, Kawasaki M, Kuramoto Y, Nomura A, Toma Y, Watanabe T, Yamada T, Ishihara Y, Nagata M, Kato H, Hakui H, Saito Y, Asano Y, Sakata Y. Yamamoto H, et al. Among authors: ishihara y. Sci Rep. 2023 Nov 13;13(1):19767. doi: 10.1038/s41598-023-46915-1. Sci Rep. 2023. PMID: 37957180 Free PMC article.

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