Researcher profile · Semantic Scholar

K. Ohkubo

h-index: 11
Works: 27
Citations: 366

Most-cited papers

Moyamoya disease susceptibility gene RNF213 links inflammatory and angiogenic signals in endothelial cells
K. Ohkubo, Y. Sakai, Hirosuke Inoue, Satoshi Akamine +7 more
2015Scientific Reports151 citations Open access
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Malignant transformation of phosphaturic mesenchymal tumor: a case report and literature review
N. Oyama, Kanako Kojima-Ishii, Naoko Toda, T. Matsuo +11 more
2020Clinical Pediatric Endocrinology26 citations Open access
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Clinical Features, Molecular Genetics, and Long-Term Outcome in Congenital Chloride Diarrhea: A Nationwide Study in Japan.
Ken-ichiro Konishi, T. Mizuochi, Tadahiro Yanagi, Yoriko Watanabe +19 more
2019Jornal de Pediatria22 citations
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Hyperinsulinemic hypoglycemia in Beckwith–Wiedemann, Sotos, and Kabuki syndromes: A nationwide survey in Japan
Naoko Toda, K. Ihara, Kanako Kojima-Ishii, Masayuki Ochiai +24 more
2017American Journal of Medical Genetics. Part A22 citations Open access
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[Clinical application of flow cytometry].
Y. Matsui, H. Shapiro, Y. Matsuo, K. Ohkubo +2 more
1983Nihon rinsho. Japanese journal of clinical medicine17 citations
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Malignant Ovarian Steroid Cell Tumor, Not Otherwise Specified, Causes Virilization in a 4-Year-Old Girl: A Case Report and Literature Review
Takaharu Yoshimatsu, K. Nagai, Reiji Miyawaki, K. Moritani +11 more
2020Case Reports in Oncology15 citations Open access
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Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt
K. Uike, H. Nagata, Yuichiro Hirata, Kenichiro Yamamura +8 more
2018Pediatric Pulmonology14 citations
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Nephrolithiasis as an extra-intestinal presentation of pediatric inflammatory bowel disease unclassified.
Michiko Torio, M. Ishimura, S. Ohga, T. Doi +7 more
2010Journal of Crohn's & Colitis13 citations Open access
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Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes
K. Ushijima, M. Fukami, T. Ayabe, S. Narumi +19 more
2018Pediatric Diabetes12 citations Open access
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Hypothyroidism and Levothyroxine-Responsive Liver Dysfunction in a Patient with Ring Chromosome 18 Syndrome
K. Ohkubo, K. Ihara, S. Ohga, M. Ishimura +1 more
2012Thyroid11 citations Open access
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The signal transducer and activator of transcription 5B gene polymorphism contributes to the cholesterol metabolism in Japanese children with growth hormone deficiency
Mika Makimura, K. Ihara, Kanako Kojima-Ishii, T. Nozaki +4 more
2011Clinical Endocrinology11 citations
Semantic Scholar
Treatment of childhood acute lymphoblastic leukemia with intermediate-dose cytosine arabinoside and adriamycin.
E. Ishii, T. Hara, K. Ohkubo, A. Matsuzaki +2 more
1986Medical and Pediatric Oncology9 citations
Semantic Scholar
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
Satoshi Akamine, Y. Ishizaki, Y. Sakai, Hiroyuki Torisu +13 more
2018European Journal of Medical Genetics8 citations
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Vascular pathomechanism in acute encephalopathy with biphasic seizures and late reduced diffusion.
M. Sanefuji, Y. Ichimiya, Noriyuki Kaku, Momoko Sasazuki +12 more
2018Journal of Neurological Sciences8 citations
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Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
Y. Sakai, K. Ohkubo, Yuki Matsushita, Satoshi Akamine +10 more
2013European Journal of Medical Genetics7 citations
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The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1S
Mari Kurokawa, Michiko Torio, K. Ohkubo, Vlad Tocan +13 more
2020Molecular Genetics & Genomic Medicine6 citations Open access
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Sustained endocrine profiles of a girl with WAGR syndrome
Yui Takada, Y. Sakai, Yuki Matsushita, K. Ohkubo +10 more
2017BMC Medical Genetics5 citations Open access
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Thyroid Follicular Carcinoma in a Fourteen-year-old Girl with Graves’ Disease
Kanako Kojima-Ishii, K. Ihara, K. Ohkubo, T. Matsuo +4 more
2014Clinical Pediatric Endocrinology3 citations Open access
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Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects.
Kanako Tanase-Nakao, Megumi Iwahashi-Odano, C. Sugisawa, K. Abe +24 more
2024Journal of Clinical Endocrinology and Metabolism2 citations Open access
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A Child with Prostaglandin I2-associated Thyrotoxicosis: Case Report
Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, K. Ohkubo +3 more
2019Journal of Clinical Research in Pediatric Endocrinology2 citations Open access
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A pediatric case with prostaglandin I2-associated thyrotoxicosis: Case report and the literature review
Yuri Sonoda, Kenichiro Yamamura, Kanako Ishii, K. Ohkubo +3 more
2018Journal of Clinical Research in Pediatric Endocrinology1 citations Open access
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The clinical study of patients with acute renal failure requiring renal replacement therapy in the ICU
Kazutoshi Hayashi, M. Taguchi, Atsushi Terazawa, M. Taguchi +4 more
20031 citations Open access
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Intact natural killer activity in glycogenosis type Ib
Toshiro Hara, E. Ishii, K. Ohkubo, Kohji Ueda
1986European Journal of Pediatrics1 citations
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Cover Image, Volume 53, Number 4, April 2018
K. Uike, H. Nagata, Yuichiro Hirata, Kenichiro Yamamura +8 more
20180 citations
Semantic Scholar
Resolution of Hydronephrosis in a Patient With Mucopolysaccharidosis Type II With Enzyme Replacement Therapy.
K. Nishiyama, T. Imai, K. Ohkubo, M. Sanefuji +1 more
2017Urology0 citations
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Reappraising newborn screening for cobalamin C disorder.
Vlad Tocan, K. Ohkubo, Kanako Higashi, Naoko Toda +9 more
2017Pediatrics and Neonatology0 citations Open access
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Efficacy of Subcutaneous Somatrem Injections in Growth Hormone Deficient Children
Y. Okabe, K. Ohkubo, V. Mizuno, Kohji Ueda
19880 citations
Semantic Scholar

M. Sanefuji

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Y. Ishizaki×5

Kanako Kojima-Ishii×5

Naoko Toda×5