Tetsuya Okazaki - Search Results

Year	Number of Results
1999	1
2006	1
2008	1
2011	1
2012	2
2013	4
2014	2
2015	3
2016	4
2017	5
2018	6
2019	6
2020	4
2021	9
2022	6
2023	3
2024	2

1

An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty.

Arai Y, Okanishi T, Okazaki T, Awano H, Seyama R, Uchiyama Y, Matsumoto N, Tamasaki A, Maegaki Y. Arai Y, et al. Among authors: okazaki t. BMC Pediatr. 2024 May 6;24(1):308. doi: 10.1186/s12887-024-04774-3. BMC Pediatr. 2024. PMID: 38711055 Free PMC article.

2

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B.

Watanabe K, Nishio SY, Usami SI; Deafness Gene Study Consortium. Watanabe K, et al. Sci Rep. 2024 Apr 9;14(1):8326. doi: 10.1038/s41598-024-57415-1. Sci Rep. 2024. PMID: 38594301 Free PMC article.

3

Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant.

Kawaguchi T, Okanishi T, Okazaki T, Aoki C, Kasagi N, Adachi K, Yoshida Y, Miyake N, Matsumoto N, Maegaki Y. Kawaguchi T, et al. Among authors: okazaki t. Yonago Acta Med. 2023 Oct 19;66(4):463-466. doi: 10.33160/yam.2023.11.005. eCollection 2023 Nov. Yonago Acta Med. 2023. PMID: 38028263 Free PMC article.

4

Phase Lag Analysis Scalp Electroencephalography May Predict Seizure Frequencies in Patients with Childhood Epilepsy with Centrotemporal Spikes.

Oguri M, Okazaki T, Okanishi T, Nishiyama M, Kanai S, Yamada H, Ogo K, Himoto T, Maegaki Y, Fujimoto A. Oguri M, et al. Among authors: okazaki t. Yonago Acta Med. 2023 Jan 25;66(1):48-55. doi: 10.33160/yam.2023.02.006. eCollection 2023 Feb. Yonago Acta Med. 2023. PMID: 36820294 Free PMC article.

5

First detailed case report of a pediatric patient with neuronal intranuclear inclusion disease diagnosed by NOTCH2NLC genetic testing.

Miyamoto Y, Okazaki T, Watanabe K, Togawa M, Adachi T, Kato A, Ochiai R, Tamai C, Sone J, Maegaki Y. Miyamoto Y, et al. Among authors: okazaki t. Brain Dev. 2023 Jan;45(1):70-76. doi: 10.1016/j.braindev.2022.09.002. Epub 2022 Sep 21. Brain Dev. 2023. PMID: 36150977

6

A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.

Arai Y, Okanishi T, Kanai S, Okazaki T, Koshimizu E, Miyatake S, Maeoka Y, Fujimoto A, Matsumoto N, Maegaki Y. Arai Y, et al. Among authors: okazaki t. Brain Dev. 2022 Nov;44(10):732-736. doi: 10.1016/j.braindev.2022.07.005. Epub 2022 Jul 27. Brain Dev. 2022. PMID: 35907674

7

Impaired neuronal integrity in traumatic brain injury detected by ¹²³I-iomazenil single photon emission computed tomography and MRI.

Kato H, Nakagawara J, Hachisuka K, Hatazawa J, Ikoma K, Suehiro E, Iida H, Ogasawara K, Iizuka O, Ishiai S, Ichikawa T, Nariai T, Okazaki T, Shiga T, Mori E. Kato H, et al. Among authors: okazaki t. J Cereb Blood Flow Metab. 2022 Dec;42(12):2245-2254. doi: 10.1177/0271678X221113001. Epub 2022 Jul 7. J Cereb Blood Flow Metab. 2022. PMID: 35796498 Free PMC article.

8

Intractable startle epilepsy in Schuurs - Hoeijmakers syndrome.

Ohta K, Okanishi T, Kanai S, Okazaki T, Fujimoto A, Maegaki Y. Ohta K, et al. Among authors: okazaki t. Epileptic Disord. 2022 Jun 1;24(3):606-608. doi: 10.1684/epd.2022.1415. Epileptic Disord. 2022. PMID: 35770753 English. No abstract available.

9

Clinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion.

Okazaki T, Kawaguchi T, Saiki Y, Aoki C, Kasagi N, Adachi K, Saida K, Matsumoto N, Nanba E, Maegaki Y. Okazaki T, et al. Hum Genome Var. 2022 May 17;9(1):14. doi: 10.1038/s41439-022-00194-w. Hum Genome Var. 2022. PMID: 35581197 Free PMC article.

10

FKRP mutations cause congenital muscular dystrophy 1C and limb-girdle muscular dystrophy 2I in Asian patients.

Awano H, Saito Y, Shimizu M, Sekiguchi K, Niijima S, Matsuo M, Maegaki Y, Izumi I, Kikuchi C, Ishibashi M, Okazaki T, Komaki H, Iijima K, Nishino I. Awano H, et al. Among authors: okazaki t. J Clin Neurosci. 2021 Oct;92:215-221. doi: 10.1016/j.jocn.2021.08.014. Epub 2021 Aug 28. J Clin Neurosci. 2021. PMID: 34509255

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