Yamada S - Search Results

1

Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis.

Nozu K, Minamikawa S, Yamada S, Oka M, Yanagita M, Morisada N, Fujinaga S, Nagano C, Gotoh Y, Takahashi E, Morishita T, Yamamura T, Ninchoji T, Kaito H, Morioka I, Nakanishi K, Vorechovsky I, Iijima K. Nozu K, et al. Among authors: yamada s. J Hum Genet. 2017 Jul;62(7):733-735. doi: 10.1038/jhg.2017.28. Epub 2017 Mar 9. J Hum Genet. 2017. PMID: 28275241

2

A birth of bipartite exon by intragenic deletion.

Nozu K, Iijima K, Igarashi T, Yamada S, Kralovicova J, Nozu Y, Yamamura T, Minamikawa S, Morioka I, Ninchoji T, Kaito H, Nakanishi K, Vorechovsky I. Nozu K, et al. Among authors: yamada s. Mol Genet Genomic Med. 2017 Mar 1;5(3):287-294. doi: 10.1002/mgg3.277. eCollection 2017 May. Mol Genet Genomic Med. 2017. PMID: 28546999 Free PMC article.

3

Systematic identification and characterization of regulatory elements derived from human endogenous retroviruses.

Ito J, Sugimoto R, Nakaoka H, Yamada S, Kimura T, Hayano T, Inoue I. Ito J, et al. Among authors: yamada s. PLoS Genet. 2017 Jul 12;13(7):e1006883. doi: 10.1371/journal.pgen.1006883. eCollection 2017 Jul. PLoS Genet. 2017. PMID: 28700586 Free PMC article.

4

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

Narumi S, Amano N, Ishii T, Katsumata N, Muroya K, Adachi M, Toyoshima K, Tanaka Y, Fukuzawa R, Miyako K, Kinjo S, Ohga S, Ihara K, Inoue H, Kinjo T, Hara T, Kohno M, Yamada S, Urano H, Kitagawa Y, Tsugawa K, Higa A, Miyawaki M, Okutani T, Kizaki Z, Hamada H, Kihara M, Shiga K, Yamaguchi T, Kenmochi M, Kitajima H, Fukami M, Shimizu A, Kudoh J, Shibata S, Okano H, Miyake N, Matsumoto N, Hasegawa T. Narumi S, et al. Among authors: yamada s. Nat Genet. 2016 Jul;48(7):792-7. doi: 10.1038/ng.3569. Epub 2016 May 16. Nat Genet. 2016. PMID: 27182967

5

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype.

Takenouchi T, Kuchikata T, Yoshihashi H, Fujiwara M, Uehara T, Miyama S, Yamada S, Kosaki K. Takenouchi T, et al. Among authors: yamada s. Am J Med Genet A. 2017 May;173(5):1353-1357. doi: 10.1002/ajmg.a.38167. Epub 2017 Apr 4. Am J Med Genet A. 2017. PMID: 28374938

6

Jervell and Lange-Nielsen syndrome with novel KCNQ1 and additional gene mutations.

Matsuda S, Ohnuki Y, Okami M, Ochiai E, Yamada S, Takahashi K, Osawa M, Okami K, Iida M, Mochizuki H. Matsuda S, et al. Among authors: yamada s. Hum Genome Var. 2020 Oct 15;7:34. doi: 10.1038/s41439-020-00121-x. eCollection 2020. Hum Genome Var. 2020. PMID: 33082985 Free PMC article.

7

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report.

Aoyama KI, Kimura M, Yamazaki H, Uchibori M, Kojima R, Osawa Y, Hosomichi K, Ota Y, Tanaka M, Yamada S, Nishimura G. Aoyama KI, et al. Among authors: yamada s. BMC Med Genet. 2019 Jul 16;20(1):126. doi: 10.1186/s12881-019-0858-z. BMC Med Genet. 2019. PMID: 31311520 Free PMC article.

8

[No title available]

[No authors listed] [No authors listed] PMID: 33419960

9

Identification of novel exonic mobile element insertions in epithelial ovarian cancers.

Hayano T, Yamada S, Hosomichi K, Nakaoka H, Yoshihara K, Adachi S, Kashima K, Tanaka K, Enomoto T, Inoue I. Hayano T, et al. Among authors: yamada s. Hum Genome Var. 2015 Oct 1;2:15030. doi: 10.1038/hgv.2015.30. eCollection 2015. Hum Genome Var. 2015. PMID: 27081539 Free PMC article.

10

Identifying risk factors of dose reduction or treatment discontinuation due to fatigue or gastrointestinal symptoms in patients receiving lenvatinib treatment for hepatocellular carcinoma.

Kimura M, Yamada S, Go M, Yasuda S, Toyoda H, Usami E. Kimura M, et al. Among authors: yamada s. J Oncol Pharm Pract. 2024 Sep 23:10781552241281900. doi: 10.1177/10781552241281900. Online ahead of print. J Oncol Pharm Pract. 2024. PMID: 39311154

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