Uehara DT - Search Results

1

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

Hayashi S, Uehara DT, Tanimoto K, Mizuno S, Chinen Y, Fukumura S, Takanashi JI, Osaka H, Okamoto N, Inazawa J. Hayashi S, et al. Among authors: uehara dt. PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017. PLoS One. 2017. PMID: 28783747 Free PMC article.

2

SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.

Uehara DT, Hayashi S, Okamoto N, Mizuno S, Chinen Y, Kosaki R, Kosho T, Kurosawa K, Matsumoto H, Mitsubuchi H, Numabe H, Saitoh S, Makita Y, Hata A, Imoto I, Inazawa J. Uehara DT, et al. J Hum Genet. 2016 Apr;61(4):335-43. doi: 10.1038/jhg.2015.154. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740234

3

A missense variant in NUF2, a component of the kinetochore NDC80 complex, causes impaired chromosome segregation and aneuploidy associated with microcephaly and short stature.

Uehara DT, Mitsubuchi H, Inazawa J. Uehara DT, et al. Hum Genet. 2021 Jul;140(7):1047-1060. doi: 10.1007/s00439-021-02273-4. Epub 2021 Mar 15. Hum Genet. 2021. PMID: 33721060

4

Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel.

Hirabayashi K, Uehara DT, Abe H, Ishii A, Moriyama K, Hirose S, Inazawa J. Hirabayashi K, et al. Among authors: uehara dt. J Hum Genet. 2019 Nov;64(11):1097-1106. doi: 10.1038/s10038-019-0661-x. Epub 2019 Aug 30. J Hum Genet. 2019. PMID: 31471553

5

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Beck DB, Basar MA, Asmar AJ, Thompson JJ, Oda H, Uehara DT, Saida K, Pajusalu S, Talvik I, D'Souza P, Bodurtha J, Mu W, Barañano KW, Miyake N, Wang R, Kempers M, Tamada T, Nishimura Y, Okada S, Kosho T, Dale R, Mitra A, Macnamara E; Undiagnosed Diseases Network; Matsumoto N, Inazawa J, Walkiewicz M, Õunap K, Tifft CJ, Aksentijevich I, Kastner DL, Rocha PP, Werner A. Beck DB, et al. Among authors: uehara dt. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 Free PMC article.

6

Chromosome imbalances in syndromic hearing loss.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Catelani AL, et al. Among authors: uehara dt. Clin Genet. 2009 Nov;76(5):458-64. doi: 10.1111/j.1399-0004.2009.01276.x. Epub 2009 Oct 6. Clin Genet. 2009. PMID: 19807740

7

Genomic copy number alterations in non-syndromic hearing loss.

Rosenberg C, Freitas ÉL, Uehara DT, Auricchio MTBM, Costa SS, Oiticica J, Silva AG, Krepischi AC, Mingroni-Netto RC. Rosenberg C, et al. Among authors: uehara dt. Clin Genet. 2016 Apr;89(4):473-477. doi: 10.1111/cge.12683. Epub 2015 Nov 10. Clin Genet. 2016. PMID: 26456090

8

A novel KCNQ4 mutation and a private IMMP2L-DOCK4 duplication segregating with nonsyndromic hearing loss in a Brazilian family.

Uehara DT, Freitas ÉL, Alves LU, Mazzeu JF, Auricchio MT, Tabith A Jr, Monteiro ML, Rosenberg C, Mingroni-Netto RC. Uehara DT, et al. Hum Genome Var. 2015 Oct 29;2:15038. doi: 10.1038/hgv.2015.38. eCollection 2015. Hum Genome Var. 2015. PMID: 27081546 Free PMC article.

9

Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.

Uehara DT, Rincon D, Abreu-Silva RS, Auricchio MT, Tabith A, Kok F, Mingroni-Netto RC. Uehara DT, et al. Genet Test Mol Biomarkers. 2010 Oct;14(5):611-6. doi: 10.1089/gtmb.2010.0011. Epub 2010 Aug 19. Genet Test Mol Biomarkers. 2010. PMID: 20722495

10

Identification of a Biallelic Missense Variant in Gasdermin D (c.823G > C, p.Asp275His) in a Patient of Atypical Gorham-Stout Disease in a Consanguineous Family.

Uehara DT, Muramatsu T, Ishii S, Suzuki H, Fukushima K, Arasaki Y, Hayata T, Inazawa J, Ezura Y. Uehara DT, et al. JBMR Plus. 2023 Jun 29;7(9):e10784. doi: 10.1002/jbm4.10784. eCollection 2023 Sep. JBMR Plus. 2023. PMID: 37701150 Free PMC article.

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