Yoshiura KI - Search Results

1

Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.

Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: yoshiura ki. J Hum Genet. 2024 May;69(5):223. doi: 10.1038/s10038-024-01238-5. J Hum Genet. 2024. PMID: 38459226 No abstract available.

2

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjögren syndrome.

Takahata T, Yamada K, Yamada Y, Ono S, Kinoshita A, Matsuzaka T, Yoshiura K, Kitaoka T. Takahata T, et al. J Hum Genet. 2010 Mar;55(3):142-6. doi: 10.1038/jhg.2009.141. Epub 2010 Jan 29. J Hum Genet. 2010. PMID: 20111056

3

Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.

Higashimoto K, Maeda T, Okada J, Ohtsuka Y, Sasaki K, Hirose A, Nomiyama M, Takayanagi T, Fukuzawa R, Yatsuki H, Koide K, Nishioka K, Joh K, Watanabe Y, Yoshiura K, Soejima H. Higashimoto K, et al. Eur J Hum Genet. 2013 Nov;21(11):1316-9. doi: 10.1038/ejhg.2013.45. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486540 Free PMC article.

4

Single human papillomavirus 16 or 52 infection and later cytological findings in Japanese women with NILM or ASC-US.

Abe S, Miura K, Kinoshita A, Mishima H, Miura S, Yamasaki K, Hasegawa Y, Higashijima A, Jo O, Yoshida A, Kaneuchi M, Yoshiura K, Masuzaki H. Abe S, et al. J Hum Genet. 2014 May;59(5):251-5. doi: 10.1038/jhg.2014.9. Epub 2014 Feb 13. J Hum Genet. 2014. PMID: 24522294

5

A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population.

Miura K, Mishima H, Yasunami M, Kaneuchi M, Kitajima M, Abe S, Higashijima A, Fuchi N, Miura S, Yoshiura K, Masuzaki H. Miura K, et al. J Hum Genet. 2016 Sep;61(9):793-6. doi: 10.1038/jhg.2016.50. Epub 2016 May 19. J Hum Genet. 2016. PMID: 27193219

6

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Dateki S, et al. Among authors: yoshiura ki. J Hum Genet. 2017 Jul;62(7):717-721. doi: 10.1038/jhg.2017.33. Epub 2017 Mar 23. J Hum Genet. 2017. PMID: 28331218

7

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome.

Shimizu H, Watanabe S, Kinoshita A, Mishima H, Nishimura G, Moriuchi H, Yoshiura KI, Dateki S. Shimizu H, et al. Among authors: yoshiura ki. J Hum Genet. 2019 May;64(5):467-471. doi: 10.1038/s10038-019-0581-9. Epub 2019 Feb 22. J Hum Genet. 2019. PMID: 30796325

8

Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan.

Mishima H, Suzuki H, Doi M, Miyazaki M, Watanabe S, Matsumoto T, Morifuji K, Moriuchi H, Yoshiura KI, Kondoh T, Kosaki K. Mishima H, et al. Among authors: yoshiura ki. J Hum Genet. 2019 Aug;64(8):789-794. doi: 10.1038/s10038-019-0619-z. Epub 2019 May 29. J Hum Genet. 2019. PMID: 31138847

9

BCS1L mutations produce Fanconi syndrome with developmental disability.

Kanako KI, Sakakibara N, Murayama K, Nagatani K, Murata S, Otake A, Koga Y, Suzuki H, Uehara T, Kosaki K, Yoshiura KI, Mishima H, Ichimiya Y, Mushimoto Y, Horinouchi T, Nagano C, Yamamura T, Iijima K, Nozu K. Kanako KI, et al. Among authors: yoshiura ki. J Hum Genet. 2022 Mar;67(3):143-148. doi: 10.1038/s10038-021-00984-0. Epub 2021 Oct 15. J Hum Genet. 2022. PMID: 34650211

10

Identification of unique DNA methylation sites in Kabuki syndrome using whole genome bisulfite sequencing and targeted hybridization capture followed by enzymatic methylation sequencing.

Hamaguchi Y, Mishima H, Kawai T, Saitoh S, Hata K, Kinoshita A, Yoshiura KI. Hamaguchi Y, et al. Among authors: yoshiura ki. J Hum Genet. 2022 Dec;67(12):711-720. doi: 10.1038/s10038-022-01083-4. Epub 2022 Sep 27. J Hum Genet. 2022. PMID: 36167771

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