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1. Transient hyper-17-OHPnemia unrelated to cross-reactions with residual fetal adrenal cortex products. Horm Res. 2004;61(5):242–5.
Mizuno H, Ohro Y, Sugiyama Y, Ito T, Hasegawa T, Homma K, Ueshiba H, Ono M, Togari H.
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2. Identification of a new case of hepatocyte nuclear factor-1beta mutation with highly varied phenotypes. Diabetologia. 2004;47(6):1128–9.
Shihara N, Horikawa Y, Onishi T, Ono M, Kashimada K, Takeda J.
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3. Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells. Cancer Res. 2007;67(3):1019–29.
Ohnuma-Ishikawa K, Morio T, Yamada T, Sugawara Y, Ono M, Nagasawa M, Yasuda A, Morimoto C, Ohnuma K, Dang NH, Hosoi H, Verdin E, Mizutani S.
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4. A Boy with "Transient" Growth Hormone Deficiency in Prepubertal Stage Despite Normal Growth Hormone Secretion in Childhood and after Puberty. Endocr J. 2007;54(6):1015–9.
Kashimada K, Onishi T, Ono M, Miyai K, Ohta M, Mizutani S.
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5. Liquid chromatography-tandem mass spectrometric method for determination of salivary 17alpha-hydroxyprogesterone: A noninvasive tool for evaluating efficacy of hormone replacement therapy in congenital adrenal hyperplasia.
J Chromatogr B Analyt Technol Biomed Life Sci. 2008;867(1):49–56. Shibayama Y, Higashi T, Shimada K, Kashimada KI, Onishi T, Ono M, Miyai K, Mizutani S.
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6. Clinical Course of Patients with Nonclassical 21-Hydroxylase Deficiency (21-OHD) Diagnosed in Infancy and Childhood. Endocr J. 2008;55(2):397–404.
Kashimada KI, Ono M, Onishi T, Koyama S, Toyoura T, Imai K, Saisho S, Mizutani S.
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7. In Vitro Enzyme Assay of CYP21A2 Mutation (R483Q) by A Novel Method Using Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry (LC-ESI-MS/MS).
Clin Pediatr Endocrinol. 2008;17(2):49–56. Ono M, Kashimada KI, Miyai K, Onishi T, Takagi M, Honma S, Mizutani S.
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8. Two Preterm Infants with Late Onset Circulatory Collapse Induced by Levothyroxine Sodium. Pediatr Int. 2010;52(3):e154–7.
Takizawa F, Kashimada K, Enomoto K, Miyai K, Ono M, Asada G, Shimizu J, Mizutani S.
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9. Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient with LHX4 Deletion. J Clin Endocrinol Metab. 2010;95(8):4043–7.
Dateki S, Fukami M, Uematsu A, Kaji M, Iso M, Ono M, Mizota M, Yokoya S, Motomura K, Kinoshita E, Moriuchi H, Ogata T.
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10. Nationwide surveillance of circulatory collapse associated with levothyroxine administration in very-low-birthweight infants in Japan. Pediatr Int. 2012;54(2):177–81.
Kawai M, Kusuda S, Cho K, Horikawa R, Takizawa F, Ono M, Hattori T, Oshiro M.
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11. Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. Endocr J. 2012;59(11):1001–6.
Takasawa K, Ono M, Miyai K, Matsubara Y, Takizawa F, Onishi T, Kashimada K, Mizutani S.
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12. Longitudinal analysis of growth and body composition of Japanese 21-OHD patients in childhood. Endocr J. 2013;60(2):149–54.
Matsubara Y, Ono M, Miyai K, Takizawa F, Takasawa K, Onishi T, Kashimada K, Mizutani S.
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13. Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol. 2013;9(2):79–91.
Ono M, Harley VR.
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14. Two novel HSD3B2 missense mutations with diverse residual enzymatic activities for Δ5-steroids. Clin Endocrinol (Oxf). 2014;80(6):782–9.
Takasawa K, Ono M, Hijikata A, Matsubara Y, Katsumata N, Takagi M, Morio T, Ohara O, Kashimada K, Mizutani S.
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15. A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads. Clin Pediatr Endocrinol. 2015;24(1):11–4.
Nomura R, Miyai K, Okada M, Kajiwara M, Ono M, Ogata T, Onishi I, Sato M, Sekine M, Akashi T, Mizutani S, Kashimada K.
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16. Clinical, biochemical, and genetic features of non-classical 21-hydroxylase deficiency in Japanese children. Endocr J. 2015;62(3):277–82.
Kashimada K, Ishii T, Nagasaki K, Ono M, Tajima T, Yokota I, Hasegawa Y.
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17. FGFR2 mutation in 46,XY sex reversal with craniosynostosis. Hum Mol Genet. 2015;24(23):6699–710.
Bagheri-Fam S, Ono M, Li L, Zhao L, Ryan J, Lai R, Katsura Y, Rossello FJ, Koopman P, Scherer G, Bartsch O, Eswarakumar JV, Harley VR.
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18. Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr. 2015;15(1):209.
Tsuji A, Konishi K, Hasegawa S, Anazawa A, Onishi T, Ono M, Morio T, Kitagawa T, Kashimada K.
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19. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort. Genome Biol. 2016;17(1):243.
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.
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20. Lower body weight and BMI at birth were associated with early adiposity rebound in 21-hydroxylase deficiency patients. Endocr J. 2016;63(11):983–90.
Takishima S, Nakajima K, Nomura R, Tsuji-Hosokawa A, Matsuda N, Matsubara Y, Ono M, Miyai K, Takasawa K, Morio T, Hasegawa Y, Kashimada K.
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21. Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature Review. Sex Dev. 2017;11(5–6):284–8.
Takasawa K, Igarashi M, Ono M, Takemoto A, Takada S, Yamataka A, Ogata T, Morio T, Fukami M, Kashimada K.
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22. Insufficient sleep syndrome: An unrecognized but important clinical entity. Pediatr Int. 2018;60(4):372–5.
Kohyama J, Anzai Y, Ono M, Kishino A, Tamanuki K, Takada K, Inoue K, Horiuchi M, Hatai Y.
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23. Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development. Mol Genet Genomic Med. 2020;8(3):e1095.
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.
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24. Factors associated with sleep duration among pupils. Pediatr Int. 2020;62(6):716–24.
Kohyama J, Ono M, Anzai Y, Kishino A, Tamanuki K, Moriyama K, Saito Y, Emoto R, Fuse G, Hatai Y.
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25. Inactivation of a Frameshift TSH Receptor Variant Val711Phefs*18 is Due to Acquisition of a Hydrophobic Degron. J Clin Endocrinol Metab. 2021;106(1):e265–72.
Sugisawa C, Ono M, Kashimada K, Hasegawa T, Narumi S.
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26. FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination. Clin Genet. 2023;103(3):277–87.
Croft B, Bird AD, Ono M, Eggers S, Bagheri-Fam S, Ryan JM, Reyes AP, van den Bergen J, Baxendale A, Thompson EM, Kueh AJ, Stanton P, Thomas T, Sinclair AH, Harley VR.
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27. An infant with A20 haploinsufficiency presenting with periodic fever syndrome: A case report. Int J Rheum Dis. 2023;26(5):973–6.
Wakatsuki R, Hatai Y, Okamoto K, Kaneko S, Shimbo A, Irabu H, Shimizu M, Kanegane H, Ono M.
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28. Respiratory Symptoms are the First Presentation of Liver Abscess. Pediatr Infect Dis J. 2024;43(2):e71–3
Ogasawara K, Ono M, Tamanuki K, Wakatsuki R, Inoue K, Tateishi Y, Oda R, Shirane S, Funakoshi H, Kanegane H, Hatai Y.
