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2017 2
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2020 5
2021 6
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2023 2
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Page 1
Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: imai okazaki a. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Frazier AE, Compton AG, Kishita Y, Hock DH, Welch AE, Amarasekera SSC, Rius R, Formosa LE, Imai-Okazaki A, Francis D, Wang M, Lake NJ, Tregoning S, Jabbari JS, Lucattini A, Nitta KR, Ohtake A, Murayama K, Amor DJ, McGillivray G, Wong FY, van der Knaap MS, Jeroen Vermeulen R, Wiltshire EJ, Fletcher JM, Lewis B, Baynam G, Ellaway C, Balasubramaniam S, Bhattacharya K, Freckmann ML, Arbuckle S, Rodriguez M, Taft RJ, Sadedin S, Cowley MJ, Minoche AE, Calvo SE, Mootha VK, Ryan MT, Okazaki Y, Stroud DA, Simons C, Christodoulou J, Thorburn DR. Frazier AE, et al. Among authors: imai okazaki a. Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9. Med. 2021. PMID: 33575671 Free PMC article.
Heterozygosity mapping for human dominant trait variants.
Imai-Okazaki A, Li Y, Horpaopan S, Riazalhosseini Y, Garshasbi M, Mosse YP, Zhang D, Schrauwen I, Sharma A, Fann CSJ, Leal SM, Lathrop M, Ott J. Imai-Okazaki A, et al. Hum Mutat. 2019 Jul;40(7):996-1004. doi: 10.1002/humu.23765. Epub 2019 Apr 24. Hum Mutat. 2019. PMID: 31018026 Free PMC article.
Barth Syndrome: Different Approaches to Diagnosis.
Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y, Hirata T, Mizuno Y, Harashima H, Hirono K, Ichida F, Noguchi A, Yoshida M, Tokorodani C, Nishiuchi R, Takeda A, Nakaya A, Sakata Y, Murayama K, Ohtake A, Okazaki Y. Imai-Okazaki A, et al. J Pediatr. 2018 Feb;193:256-260. doi: 10.1016/j.jpeds.2017.09.075. Epub 2017 Dec 15. J Pediatr. 2018. PMID: 29249525
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: imai okazaki a. Arch Dis Child Fetal Neonatal Ed. 2022 May;107(3):329-334. doi: 10.1136/archdischild-2021-321633. Epub 2021 Oct 7. Arch Dis Child Fetal Neonatal Ed. 2022. PMID: 34625524 Free PMC article.
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy.
Takeda A, Murayama K, Okazaki Y, Imai-Okazaki A, Ohtake A, Takakuwa E, Yamazawa H, Izumi G, Abe J, Nagai A, Taniguchi K, Sasaki D, Tsujioka T, Basgen JM. Takeda A, et al. Among authors: imai okazaki a. J Clin Pathol. 2020 Aug 17:jclinpath-2020-206801. doi: 10.1136/jclinpath-2020-206801. Online ahead of print. J Clin Pathol. 2020. PMID: 32817174
Development of Leigh syndrome with a high probability of cardiac manifestations in infantile-onset patients with m.14453G > A.
Shimura M, Onuki T, Sugiyama Y, Matsuhashi T, Ebihara T, Fushimi T, Tajika M, Ichimoto K, Matsunaga A, Tsuruoka T, Nitta KR, Imai-Okazaki A, Yatsuka Y, Kishita Y, Ohtake A, Okazaki Y, Murayama K. Shimura M, et al. Among authors: imai okazaki a. Mitochondrion. 2022 Mar;63:1-8. doi: 10.1016/j.mito.2021.12.005. Epub 2021 Dec 18. Mitochondrion. 2022. PMID: 34933128 Free article.
Cardiomyopathy in children with mitochondrial disease: Prognosis and genetic background.
Imai-Okazaki A, Kishita Y, Kohda M, Mizuno Y, Fushimi T, Matsunaga A, Yatsuka Y, Hirata T, Harashima H, Takeda A, Nakaya A, Sakata Y, Kogaki S, Ohtake A, Murayama K, Okazaki Y. Imai-Okazaki A, et al. Int J Cardiol. 2019 Mar 15;279:115-121. doi: 10.1016/j.ijcard.2019.01.017. Epub 2019 Jan 5. Int J Cardiol. 2019. PMID: 30642647
18 results