| Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (KAL1) and Fibroblast Growth Factor Receptor 1 (FGFR1, or KAL2) in Five Families and 18 … N Sato, N Katsumata, M Kagami, T Hasegawa, N Hori, S Kawakita, ... The Journal of Clinical Endocrinology & Metabolism 89 (3), 1079-1088, 2004 | 276 | 2004 |
| Usefulness of serum adiponectin level as a diagnostic marker of metabolic syndrome in obese Japanese children Y Ogawa, T Kikuchi, K Nagasaki, M Hiura, Y Tanaka, M Uchiyama Hypertension Research 28 (1), 51-57, 2005 | 118 | 2005 |
| Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients M Kagami, K Nagasaki, R Kosaki, R Horikawa, Y Naiki, S Saitoh, T Tajima, ... Genetics in Medicine 19 (12), 1356-1366, 2017 | 112 | 2017 |
| Shear wave velocity is a useful marker for managing nonalcoholic steatohepatitis A Osaki, T Kubota, T Suda, M Igarashi, K Nagasaki, A Tsuchiya, M Yano, ... World journal of gastroenterology: WJG 16 (23), 2918, 2010 | 106 | 2010 |
| Elevation of serum C-reactive protein levels is associated with obesity in boys M Hiura, T Kikuchi, K Nagasaki, M Uchiyama Hypertension Research 26 (7), 541-546, 2003 | 88 | 2003 |
| Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: results from a Japanese clinical trial T Kitaoka, T Tajima, K Nagasaki, T Kikuchi, K Yamamoto, T Michigami, ... Clinical Endocrinology 87 (1), 10-19, 2017 | 73 | 2017 |
| Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes I Umeki, T Niihori, T Abe, S Kanno, N Okamoto, S Mizuno, K Kurosawa, ... Human genetics 138, 21-35, 2019 | 62 | 2019 |
| Obese Japanese children have low bone mineral density after puberty K Nagasaki, T Kikuchi, M Hiura, M Uchiyama Journal of bone and mineral metabolism 22, 376-381, 2004 | 60 | 2004 |
| Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients F Sekiguchi, Y Tsurusaki, N Okamoto, KW Teik, S Mizuno, H Suzumura, ... Journal of human genetics 64 (12), 1173-1186, 2019 | 56 | 2019 |
| Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature A Hattori, Y Katoh-Fukui, A Nakamura, K Matsubara, T Kamimaki, ... Endocrine journal 64 (10), 947-954, 2017 | 54 | 2017 |
| Guidelines for mass screening of congenital hypothyroidism (2014 revision) K Nagasaki, K Minamitani, M Anzo, M Adachi, T Ishii, K Onigata, ... clinical pediatric endocrinology 24 (3), 107-133, 2015 | 47* | 2015 |
| Factors affecting functional outcomes in long-term survivors of intracranial germinomas: a 20-year experience in a single institution S Jinguji, J Yoshimura, K Nishiyama, H Aoki, K Nagasaki, M Natsumeda, ... Journal of Neurosurgery: Pediatrics 11 (4), 454-463, 2013 | 47 | 2013 |
| Lower birth weight and visceral fat accumulation are related to hyperinsulinemia and insulin resistance in obese Japanese children Y Tanaka, T Kikuchi, K Nagasaki, M Hiura, Y Ogawa, M Uchiyama Hypertension research 28 (6), 529-536, 2005 | 45 | 2005 |
| PRKAR1A Mutation Affecting cAMP-Mediated G Protein-Coupled Receptor Signaling in a Patient with Acrodysostosis and Hormone Resistance K Nagasaki, T Iida, H Sato, Y Ogawa, T Kikuchi, A Saitoh, T Ogata, ... The Journal of Clinical Endocrinology & Metabolism 97 (9), E1808-E1813, 2012 | 43 | 2012 |
| West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14 J Tohyama, T Yamamoto, K Hosoki, K Nagasaki, N Akasaka, T Ohashi, ... American Journal of Medical Genetics Part A 155 (10), 2584-2588, 2011 | 43 | 2011 |
| Natural course of congenital hypothyroidism by dual oxidase 2 mutations from the neonatal period through puberty Y Maruo, K Nagasaki, K Matsui, Y Mimura, A Mori, M Fukami, Y Takeuchi European Journal of Endocrinology 174 (4), 453-463, 2016 | 42 | 2016 |
| Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature M Fukami, Y Naiki, K Muroya, T Hamajima, S Soneda, R Horikawa, ... Journal of human genetics 60 (9), 553-556, 2015 | 41 | 2015 |
| Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients M Kon, E Suzuki, VC Dung, Y Hasegawa, T Mitsui, K Muroya, K Ueoka, ... Human Reproduction 30 (3), 499-506, 2015 | 41 | 2015 |
| DLK1, notch signaling and the timing of puberty DB Macedo, UB Kaiser Seminars in reproductive medicine 37 (04), 174-181, 2019 | 40 | 2019 |
| Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri–Weill dyschondrosteosis H Shima, T Tanaka, T Kamimaki, S Dateki, K Muroya, R Horikawa, ... Journal of human genetics 61 (7), 585-591, 2016 | 40 | 2016 |
