Osamu Shimokawa - Search Results

Year	Number of Results
2002	2
2003	3
2004	6
2005	7
2006	7
2007	5
2008	4
2009	1
2010	1
2011	5
2012	3
2016	1
2021	3
2022	1
2023	3
2024	1

1

Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report.

Marutani S, Nishino T, Shimokawa O, Pooh RK, Morisaki H, Inamura N. Marutani S, et al. Among authors: shimokawa o. Pediatr Dev Pathol. 2023 Sep-Oct;26(5):494-498. doi: 10.1177/10935266231194701. Epub 2023 Sep 6. Pediatr Dev Pathol. 2023. PMID: 37672683

2

Compound heterozygous variants in RAB34 in a rare skeletal ciliopathy syndrome.

Batkovskyte D, Komatsu M, Hammarsjö A, Pooh R, Shimokawa O, Ikegawa S, Grigelioniene G, Nishimura G, Yamada T. Batkovskyte D, et al. Among authors: shimokawa o. Clin Genet. 2024 Jan;105(1):87-91. doi: 10.1111/cge.14419. Epub 2023 Aug 24. Clin Genet. 2024. PMID: 37619988

3

Somatic mosaicism of the PI3K-AKT-MTOR pathway is associated with hemimegalencephaly in fetal brains.

Itoh K, Pooh R, Shimokawa O, Fushiki S. Itoh K, et al. Among authors: shimokawa o. Neuropathology. 2023 Apr;43(2):190-196. doi: 10.1111/neup.12875. Epub 2022 Nov 3. Neuropathology. 2023. PMID: 36325654

4

Clinical Validation of Fetal cfDNA Analysis Using Rolling-Circle-Replication and Imaging Technology in Osaka (CRITO Study).

Pooh RK, Masuda C, Matsushika R, Machida M, Nakamura T, Takeda M, Ohashi H, Kumagai M, Uenishi K, Roos F, Persson F, Shimokawa O. Pooh RK, et al. Among authors: shimokawa o. Diagnostics (Basel). 2021 Oct 4;11(10):1837. doi: 10.3390/diagnostics11101837. Diagnostics (Basel). 2021. PMID: 34679535 Free PMC article.

5

Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.

Pooh RK, Machida M, Imoto I, Arai EN, Ohashi H, Takeda M, Shimokawa O, Fukuta K, Shiozaki A, Saito S, Chiyo H. Pooh RK, et al. Among authors: shimokawa o. Genes (Basel). 2021 Mar 2;12(3):358. doi: 10.3390/genes12030358. Genes (Basel). 2021. PMID: 33801456 Free PMC article.

6

D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.

Shimokawa O, Takeda M, Ohashi H, Shono-Ota A, Kumagai M, Matsushika R, Masuda C, Uenishi K, Kimata Pooh R. Shimokawa O, et al. Diagnostics (Basel). 2021 Feb 18;11(2):337. doi: 10.3390/diagnostics11020337. Diagnostics (Basel). 2021. PMID: 33670620 Free PMC article.

7

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T. Watanabe S, et al. Among authors: shimokawa o. Am J Med Genet A. 2016 Apr;170A(4):908-17. doi: 10.1002/ajmg.a.37496. Epub 2016 Jan 18. Am J Med Genet A. 2016. PMID: 26782913

8

Bisphosphonate-induced gastrointestinal mucosal injury is mediated by mitochondrial superoxide production and lipid peroxidation.

Nagano Y, Matsui H, Shimokawa O, Hirayama A, Nakamura Y, Tamura M, Rai K, Kaneko T, Hyodo I. Nagano Y, et al. Among authors: shimokawa o. J Clin Biochem Nutr. 2012 Nov;51(3):196-203. doi: 10.3164/jcbn.12-41. Epub 2012 Sep 5. J Clin Biochem Nutr. 2012. PMID: 23170047 Free PMC article.

9

Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks.

Longoni M, Lage K, Russell MK, Loscertales M, Abdul-Rahman OA, Baynam G, Bleyl SB, Brady PD, Breckpot J, Chen CP, Devriendt K, Gillessen-Kaesbach G, Grix AW, Rope AF, Shimokawa O, Strauss B, Wieczorek D, Zackai EH, Coletti CM, Maalouf FI, Noonan KM, Park JH, Tracy AA, Lee C, Donahoe PK, Pober BR. Longoni M, et al. Among authors: shimokawa o. Am J Med Genet A. 2012 Dec;158A(12):3148-58. doi: 10.1002/ajmg.a.35665. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165946 Free PMC article.

10

NSAIDs and acidic environment induce gastric mucosal cellular mitochondrial dysfunction.

Nagano Y, Matsui H, Tamura M, Shimokawa O, Nakamura Y, Kaneko T, Hyodo I. Nagano Y, et al. Among authors: shimokawa o. Digestion. 2012;85(2):131-5. doi: 10.1159/000334685. Epub 2012 Jan 19. Digestion. 2012. PMID: 22269294

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