Inazawa J - Search Results

1

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: inazawa j. Sci Adv. 2021 Jan 20;7(4):eabe2116. doi: 10.1126/sciadv.abe2116. Print 2021 Jan. Sci Adv. 2021. PMID: 33523931 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. Among authors: inazawa j. 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

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: inazawa j. PLoS One. 2017 Aug 7;12(8):e0181791. doi: 10.1371/journal.pone.0181791. eCollection 2017. PLoS One. 2017. PMID: 28783747 Free PMC article.

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: inazawa j. 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

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. Among authors: inazawa j. Hum Genet. 2021 Jul;140(7):1047-1060. doi: 10.1007/s00439-021-02273-4. Epub 2021 Mar 15. Hum Genet. 2021. PMID: 33721060

6

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. Among authors: inazawa j. JBMR Plus. 2023 Jun 29;7(9):e10784. doi: 10.1002/jbm4.10784. eCollection 2023 Sep. JBMR Plus. 2023. PMID: 37701150 Free PMC article.

7

Isolation and characterization of a novel gene deleted in DiGeorge syndrome.

Kurahashi H, Akagi K, Inazawa J, Ohta T, Niikawa N, Kayatani F, Sano T, Okada S, Nishisho I. Kurahashi H, et al. Among authors: inazawa j. Hum Mol Genet. 1995 Apr;4(4):541-9. doi: 10.1093/hmg/4.4.541. Hum Mol Genet. 1995. PMID: 7633402

8

Detection of numerical and structural alterations and fusion of chromosomes 16 and 1 in low-grade papillary breast carcinoma by fluorescence in situ hybridization.

Tsuda H, Takarabe T, Susumu N, Inazawa J, Okada S, Hirohashi S. Tsuda H, et al. Among authors: inazawa j. Am J Pathol. 1997 Oct;151(4):1027-34. Am J Pathol. 1997. PMID: 9327736 Free PMC article.

9

Identification of SMURF1 as a possible target for 7q21.3-22.1 amplification detected in a pancreatic cancer cell line by in-house array-based comparative genomic hybridization.

Suzuki A, Shibata T, Shimada Y, Murakami Y, Horii A, Shiratori K, Hirohashi S, Inazawa J, Imoto I. Suzuki A, et al. Among authors: inazawa j. Cancer Sci. 2008 May;99(5):986-94. doi: 10.1111/j.1349-7006.2008.00779.x. Cancer Sci. 2008. PMID: 18380791 Free article.

10

ITCH is a putative target for a novel 20q11.22 amplification detected in anaplastic thyroid carcinoma cells by array-based comparative genomic hybridization.

Ishihara T, Tsuda H, Hotta A, Kozaki K, Yoshida A, Noh JY, Ito K, Imoto I, Inazawa J. Ishihara T, et al. Among authors: inazawa j. Cancer Sci. 2008 Oct;99(10):1940-9. doi: 10.1111/j.1349-7006.2008.00900.x. Cancer Sci. 2008. PMID: 19016753 Free article.

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