Yamamoto-Shimojima K - Search Results

1

Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations.

Ogura H, Ohga S, Aoki T, Utsugisawa T, Takahashi H, Iwai A, Watanabe K, Okuno Y, Yoshida K, Ogawa S, Miyano S, Kojima S, Yamamoto T, Yamamoto-Shimojima K, Kanno H. Ogura H, et al. Among authors: yamamoto shimojima k. Hum Genome Var. 2020 Nov 27;7(1):42. doi: 10.1038/s41439-020-00130-w. Hum Genome Var. 2020. PMID: 33298904 Free PMC article.

2

Novel LAMA2 variants identified in a patient with white matter abnormalities.

Yamamoto-Shimojima K, Ono H, Imaizumi T, Yamamoto T. Yamamoto-Shimojima K, et al. Hum Genome Var. 2020 May 26;7:16. doi: 10.1038/s41439-020-0103-5. eCollection 2020. Hum Genome Var. 2020. PMID: 32509318 Free PMC article.

3

[No title available]

[No authors listed] [No authors listed] PMID: 33419979

4

Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation.

Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T. Yamamoto-Shimojima K, et al. Am J Med Genet A. 2020 Mar;182(3):521-526. doi: 10.1002/ajmg.a.61432. Epub 2019 Dec 10. Am J Med Genet A. 2020. PMID: 31821719

5

Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease.

Yamamoto-Shimojima K, Akagawa H, Yanagi K, Kaname T, Okamoto N, Yamamoto T. Yamamoto-Shimojima K, et al. Hum Genome Var. 2021 Apr 1;8(1):14. doi: 10.1038/s41439-021-00144-y. Hum Genome Var. 2021. PMID: 33795668 Free PMC article.

6

Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Yamamoto-Shimojima K, Imaizumi T, Aoki Y, Inoue K, Kaname T, Okuno Y, Muramatsu H, Kato K, Yamamoto T. Yamamoto-Shimojima K, et al. J Hum Genet. 2019 Jul;64(7):665-671. doi: 10.1038/s10038-019-0600-x. Epub 2019 Apr 19. J Hum Genet. 2019. PMID: 31004103

7

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: yamamoto shimojima k. 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.

8

Advantages of ddPCR in detection of PLP1 duplications.

Imaizumi T, Yamamoto-Shimojima K, Yamamoto T. Imaizumi T, et al. Intractable Rare Dis Res. 2019 Aug;8(3):198-202. doi: 10.5582/irdr.2019.01067. Intractable Rare Dis Res. 2019. PMID: 31523598 Free PMC article.

9

Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing.

Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Ondo Y, Yamamoto T. Imaizumi T, et al. J Hum Genet. 2020 Sep;65(9):735-741. doi: 10.1038/s10038-020-0762-6. Epub 2020 Apr 30. J Hum Genet. 2020. PMID: 32355308

10

Molecular Profiles of Breast Cancer in a Single Institution.

Kamio T, Kamio H, Aoki T, Ondo Y, Uchiyama T, Yamamoto-Shimojima K, Watanabe M, Okamoto T, Kanno H, Yamamoto T. Kamio T, et al. Among authors: yamamoto shimojima k. Anticancer Res. 2020 Aug;40(8):4567-4570. doi: 10.21873/anticanres.14462. Anticancer Res. 2020. PMID: 32727787

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

25 results

Search Page

Filters