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Page 1
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Eggers S, et al. Among authors: ono m. Genome Biol. 2016 Nov 29;17(1):243. doi: 10.1186/s13059-016-1105-y. Genome Biol. 2016. PMID: 27899157 Free PMC article.
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA, Robevska G, Eggers S, Riedl S, Grover SR, Bergman PB, Kimber C, Jiwane A, Khan S, Krausz C, Raza J, Atta I, Davis SR, Ono M, Harley V, Faradz SMH, Sinclair AH, Ayers KL. van den Bergen JA, et al. Among authors: ono m. Mol Genet Genomic Med. 2020 Mar;8(3):e1095. doi: 10.1002/mgg3.1095. Epub 2020 Jan 21. Mol Genet Genomic Med. 2020. PMID: 31962012 Free PMC article.
PRKAG2 Syndrome Caused by a Novel Missense Variant Mimicked Sporadic Hypertrophic Cardiomyopathy Until Its Progression to Burned-Out Phase.
Hiruma T, Inoue S, Ko T, Nomura S, Abe R, Bujo C, Ishida J, Takeda N, Amiya E, Hatano M, Abe H, Morita H, Ono M, Takeda N, Komuro I. Hiruma T, et al. Among authors: ono m. Circ Heart Fail. 2024 Nov 25:e012047. doi: 10.1161/CIRCHEARTFAILURE.124.012047. Online ahead of print. Circ Heart Fail. 2024. PMID: 39584259 No abstract available.
Development of a novel radioiodinated compound for amyloid and tau deposition imaging in Alzheimer's disease and tauopathy mouse models.
Rui X, Zhao X, Zhang N, Ding Y, Seki C, Ono M, Higuchi M, Zhang MR, Chu Y, Wei R, Xu M, Cheng C, Zuo C, Kimura Y, Ni R, Kai M, Tian M, Yuan C, Ji B. Rui X, et al. Among authors: ono m. Neuroimage. 2024 Nov 19;303:120947. doi: 10.1016/j.neuroimage.2024.120947. Online ahead of print. Neuroimage. 2024. PMID: 39571640 Free article.
Clinical Characteristics of Steatotic Liver Disease Categories in a Large Cohort of Japanese Health Checkup Participants.
Kamada Y, Fujii H, Suzuki Y, Sawada K, Tatsuta M, Maeshiro T, Tobita H, Tsutsumi T, Akahane T, Hasebe C, Kawanaka M, Kessoku T, Eguchi Y, Syokita H, Nakajima A, Kamada T, Yoshiji H, Kawaguchi T, Sakugawa H, Morishita A, Masaki T, Ohmura T, Watanabe T, Yoda Y, Enomoto N, Ono M, Fuyama K, Okada K, Nishimoto N, Ito YM, Takahashi H, Sumida Y; Japan Study Group of Nonalcoholic Fatty Liver Disease (JSG-NAFLD). Kamada Y, et al. Among authors: ono m. Gastro Hep Adv. 2024 Aug 10;3(8):1148-1156. doi: 10.1016/j.gastha.2024.08.006. eCollection 2024. Gastro Hep Adv. 2024. PMID: 39559296 Free PMC article.
4,248 results