Asano 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: asano 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

Cardiac Fibroblasts Play Pathogenic Roles in Idiopathic Restrictive Cardiomyopathy.

Tsuru H, Ishida H, Narita J, Ishii R, Suginobe H, Ishii Y, Wang R, Kogaki S, Taira M, Ueno T, Miyashita Y, Kioka H, Asano Y, Sawa Y, Ozono K. Tsuru H, et al. Among authors: asano y. Circ J. 2021 Apr 23;85(5):677-686. doi: 10.1253/circj.CJ-20-1008. Epub 2021 Feb 13. Circ J. 2021. PMID: 33583869 Free article.

3

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: asano 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.

4

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: asano 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

5

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: asano 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.

6

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: asano 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.

7

Phospholamban p.Arg14del Cardiomyopathy: A Japanese Case Series.

Tabata T, Kuramoto Y, Ohtani T, Miyawaki H, Miyashita Y, Sera F, Kioka H, Higo S, Asano Y, Hikoso S, Sakata Y. Tabata T, et al. Among authors: asano y. Intern Med. 2022 Jul 1;61(13):1987-1993. doi: 10.2169/internalmedicine.8594-21. Epub 2021 Dec 18. Intern Med. 2022. PMID: 34924461 Free PMC article.

8

Whole-exome Sequencing Analysis of a Japanese Patient With Hyperinsulinemia and Liver Dysfunction.

Fujita S, Horitani E, Miyashita Y, Fujita Y, Fukui K, Kamada Y, Mineo I, Asano Y, Iwahashi H, Kozawa J, Shimomura I. Fujita S, et al. Among authors: asano y. J Endocr Soc. 2022 Jan 29;6(3):bvac008. doi: 10.1210/jendso/bvac008. eCollection 2022 Mar 1. J Endocr Soc. 2022. PMID: 35187381 Free PMC article.

9

Genetic assessment using whole-exome sequencing for a young hypertriglyceridemic patient with repeated acute pancreatitis.

Fujita S, Nishizawa H, Miyashita Y, Imada T, Yamaguchi T, Murano T, Bujo H, Asano Y, Kozawa J, Maeda N, Shimomura I. Fujita S, et al. Among authors: asano y. Endocr J. 2022 Sep 28;69(9):1101-1108. doi: 10.1507/endocrj.EJ22-0024. Epub 2022 Apr 7. Endocr J. 2022. PMID: 35387941 Free article.

10

Compound heterozygous variants of the NARS2 gene in siblings with developmental delay, epilepsy, and neonatal diabetes syndrome.

Yagasaki H, Sano F, Narusawa H, Watanabe D, Kaga Y, Kobayashi K, Asano Y, Nagata M, Yonei A, Inukai T. Yagasaki H, et al. Among authors: asano y. Am J Med Genet A. 2022 Aug;188(8):2466-2471. doi: 10.1002/ajmg.a.62873. Epub 2022 Jun 15. Am J Med Genet A. 2022. PMID: 35703918

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