Yaoita H - Search Results

1

Two Siblings with Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome 4 and a Novel Variant of ATP8A2.

Narishige Y, Yaoita H, Shibuya M, Ikeda M, Kodama K, Kawashima A, Okubo Y, Endo W, Inui T, Togashi N, Tanaka S, Kobayashi Y, Onuma A, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Narishige Y, et al. Among authors: yaoita h. Tohoku J Exp Med. 2022 Apr 29;256(4):321-326. doi: 10.1620/tjem.2022.J010. Epub 2022 Mar 24. Tohoku J Exp Med. 2022. PMID: 35321980 Free article.

2

An asymptomatic case of a single coronary artery in a 7-year-old girl.

Yaoita H, Kimura M, Kure S. Yaoita H, et al. Cardiol Young. 2016 Oct;26(7):1428-9. doi: 10.1017/S1047951116000834. Epub 2016 Jun 20. Cardiol Young. 2016. PMID: 27322191

3

Right atrial ball thrombus after an intraatrial repair in a 3-year-old girl.

Kimura M, Yaoita H, Adachi O, Kure S. Kimura M, et al. Among authors: yaoita h. Cardiovasc Pathol. 2016 Nov-Dec;25(6):522-524. doi: 10.1016/j.carpath.2016.09.006. Epub 2016 Oct 6. Cardiovasc Pathol. 2016. PMID: 27768945

4

Central Venous Catheter-Related Bloodstream Infection with Kocuria kristinae in a Patient with Propionic Acidemia.

Kimura M, Kawai E, Yaoita H, Ichinoi N, Sakamoto O, Kure S. Kimura M, et al. Among authors: yaoita h. Case Rep Infect Dis. 2017;2017:1254175. doi: 10.1155/2017/1254175. Epub 2017 Jan 17. Case Rep Infect Dis. 2017. PMID: 28194286 Free PMC article.

5

Successful Treatment of an Infant with Left Ventricular Noncompaction Presenting with Fatal Ventricular Arrhythmia Treated with Cardiac Resynchronization Therapy and an Implantable Cardioverter Defibrillator.

Kimura M, Kawano K, Yaoita H, Kure S. Kimura M, et al. Among authors: yaoita h. Case Rep Cardiol. 2018 Apr 1;2018:9562326. doi: 10.1155/2018/9562326. eCollection 2018. Case Rep Cardiol. 2018. PMID: 29808126 Free PMC article.

6

A patient with early-onset SMAX3 and a novel variant of ATP7A.

Shibuya M, Yaoita H, Kodama K, Okubo Y, Endo W, Inui T, Togashi N, Takayama J, Tamiya G, Kikuchi A, Kure S, Haginoya K. Shibuya M, et al. Among authors: yaoita h. Brain Dev. 2022 Jan;44(1):63-67. doi: 10.1016/j.braindev.2021.08.004. Epub 2021 Aug 26. Brain Dev. 2022. PMID: 34456088

7

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. J Hum Genet. 2024 May;69(5):177-183. doi: 10.1038/s10038-024-01223-y. Epub 2024 Feb 13. J Hum Genet. 2024. PMID: 38351237 Free PMC article.

8

Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population.

Yaoita H, Kawai E, Takayama J, Iwasawa S, Saijo N, Abiko M, Suzuki K, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Yaoita H, et al. J Hum Genet. 2024 May;69(5):185. doi: 10.1038/s10038-024-01245-6. J Hum Genet. 2024. PMID: 38548934 Free PMC article. No abstract available.

9

Comprehensive genetic analysis for identification of monogenic disorders and selection of appropriate treatments in pediatric patients with persistent thrombocytopenia.

Sato D, Kirikae H, Nakano T, Katayama S, Yaoita H, Takayama J, Tamiya G, Kure S, Kikuchi A, Sasahara Y. Sato D, et al. Among authors: yaoita h. Pediatr Hematol Oncol. 2024 Nov;41(8):541-556. doi: 10.1080/08880018.2024.2395358. Epub 2024 Sep 24. Pediatr Hematol Oncol. 2024. PMID: 39318204

10

A Prevalent TMEM260 Deletion Causes Conotruncal Heart Defects, Including Truncus Arteriosus.

Saijo N, Yaoita H, Takayama J, Ota C, Kawai E, Kimura M, Ozawa A, Tamiya G, Kure S, Kikuchi A. Saijo N, et al. Among authors: yaoita h. Am J Med Genet A. 2024 Oct 19:e63906. doi: 10.1002/ajmg.a.63906. Online ahead of print. Am J Med Genet A. 2024. PMID: 39425509

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