Shimada S - Search Results

1

The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.

Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T. Hamatani M, et al. Among authors: shimada s. J Hum Genet. 2016 Oct;61(10):899-902. doi: 10.1038/jhg.2016.64. Epub 2016 Jun 2. J Hum Genet. 2016. PMID: 27251004 Free article.

2

Novel compound heterozygous LIAS mutations cause glycine encephalopathy.

Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N. Tsurusaki Y, et al. Among authors: shimada s. J Hum Genet. 2015 Oct;60(10):631-5. doi: 10.1038/jhg.2015.72. Epub 2015 Jun 25. J Hum Genet. 2015. PMID: 26108146

3

An unmasked mutation of EIF2B2 due to submicroscopic deletion of 14q24.3 in a patient with vanishing white matter disease.

Shimada S, Miya K, Oda N, Watanabe Y, Kumada T, Sugawara M, Shimojima K, Yamamoto T. Shimada S, et al. Am J Med Genet A. 2012 Jul;158A(7):1771-7. doi: 10.1002/ajmg.a.35431. Epub 2012 Jun 7. Am J Med Genet A. 2012. PMID: 22678813

4

Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.

Shimojima K, Shimada S, Tamasaki A, Akaboshi S, Komoike Y, Saito A, Furukawa T, Yamamoto T. Shimojima K, et al. Among authors: shimada s. Brain Dev. 2014 Apr;36(4):315-21. doi: 10.1016/j.braindev.2013.04.011. Epub 2013 May 18. Brain Dev. 2014. PMID: 23694757

5

Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1.

Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T. Shimojima K, et al. Among authors: shimada s. Congenit Anom (Kyoto). 2013 Dec;53(4):155-9. doi: 10.1111/j.1741-4520.2012.00384.x. Congenit Anom (Kyoto). 2013. PMID: 24712474

6

Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.

Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T. Shimada S, et al. Brain Dev. 2015 Nov;37(10):960-6. doi: 10.1016/j.braindev.2015.03.003. Epub 2015 Apr 3. Brain Dev. 2015. PMID: 25843247

7

A novel KCNT1 mutation in a Japanese patient with epilepsy of infancy with migrating focal seizures.

Shimada S, Hirano Y, Ito S, Oguni H, Nagata S, Shimojima K, Yamamoto T. Shimada S, et al. Hum Genome Var. 2014 Dec 4;1:14027. doi: 10.1038/hgv.2014.27. eCollection 2014. Hum Genome Var. 2014. PMID: 27081515 Free PMC article.

8

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.

Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T. Shimada S, et al. Am J Med Genet A. 2018 Dec;176(12):2803-2807. doi: 10.1002/ajmg.a.40500. Epub 2018 Aug 27. Am J Med Genet A. 2018. PMID: 30152144

9

Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.

Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N. Yamamoto T, et al. Among authors: shimada s. Am J Med Genet A. 2014 Mar;164A(3):634-8. doi: 10.1002/ajmg.a.36325. Epub 2013 Dec 19. Am J Med Genet A. 2014. PMID: 24357251

10

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.

Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M. Yamamoto T, et al. Among authors: shimada s. J Hum Genet. 2014 Jun;59(6):300-6. doi: 10.1038/jhg.2014.21. Epub 2014 Mar 20. J Hum Genet. 2014. PMID: 24646727

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