| SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 S Narumi, N Amano, T Ishii, N Katsumata, K Muroya, M Adachi, ... Nature genetics 48 (7), 792-797, 2016 | 341 | 2016 |
| An essential component in steroid synthesis, the steroidogenic acute regulatory protein, is expressed in discrete regions of the brain SR King, PR Manna, T Ishii, PJ Syapin, SD Ginsberg, K Wilson, LP Walsh, ... Journal of Neuroscience 22 (24), 10613-10620, 2002 | 221 | 2002 |
| Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients M Fukami, G Nishimura, K Homma, T Nagai, K Hanaki, A Uematsu, T Ishii, ... The Journal of Clinical Endocrinology & Metabolism 94 (5), 1723-1731, 2009 | 133 | 2009 |
| Micropenis and the 5α-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients G Sasaki, T Ogata, T Ishii, K Kosaki, S Sato, K Homma, T Takahashi, ... The Journal of Clinical Endocrinology & Metabolism 88 (7), 3431-3436, 2003 | 77 | 2003 |
| Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing S Narumi, K Matsuo, T Ishii, Y Tanahashi, T Hasegawa PloS one 8 (3), e60525, 2013 | 63 | 2013 |
| Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy T Ishii, Y Suzuki, N Ando, N Matsuo, T Ogata The Journal of Clinical Endocrinology & Metabolism 85 (8), 2922-2926, 2000 | 59 | 2000 |
| The roles of circulating high-density lipoproteins and trophic hormones in the phenotype of knockout mice lacking the steroidogenic acute regulatory protein T Ishii, T Hasegawa, CI Pai, N Yvgi-Ohana, R Timberg, L Zhao, G Majdic, ... Molecular Endocrinology 16 (10), 2297-2309, 2002 | 55 | 2002 |
| Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis K Muroya, I Sasagawa, Y Suzuki, T Nakada, T Ishii, T Ogata Molecular human reproduction 7 (5), 409-413, 2001 | 52 | 2001 |
| Digynic triploid infant surviving for 46 days T Hasegawa, N Harada, K Ikeda, T Ishii, I Hokuto, K Kasai, M Tanaka, ... American journal of medical genetics 87 (4), 306-310, 1999 | 50 | 1999 |
| 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 | 45 | 2015 |
| Complex role of the mitochondrial targeting signal in the function of steroidogenic acute regulatory protein revealed by bacterial artificial chromosome transgenesis in vivo G Sasaki, T Ishii, P Jeyasuria, Y Jo, A Bahat, J Orly, T Hasegawa, ... Molecular Endocrinology 22 (4), 951-964, 2008 | 44 | 2008 |
| Reference standard of penile size and prevalence of buried penis in Japanese newborn male infants N Matsuo, T Ishii, JI Takayama, M Miwa, T Hasegawa Endocrine journal 61 (9), 849-853, 2014 | 43 | 2014 |
| The effect of intramuscular testosterone enanthate treatment on stretched penile length in prepubertal boys with hypospadias T Ishii, M Hayashi, A Suwanai, N Amano, T Hasegawa Urology 76 (1), 97-100, 2010 | 43 | 2010 |
| 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 |
| Genetic defects in pediatric-onset adrenal insufficiency in Japan N Amano, S Narumi, M Hayashi, M Takagi, K Imai, T Nakamura, ... European journal of endocrinology 177 (2), 187-194, 2017 | 39 | 2017 |
| Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision) T Ishii, M Anzo, M Adachi, K Onigata, S Kusuda, K Nagasaki, S Harada, ... clinical pediatric endocrinology 24 (3), 77-105, 2015 | 36 | 2015 |
| A novel mutation in LEPRE1 that eliminates only the KDEL ER-retrieval sequence causes non-lethal osteogenesis imperfecta M Takagi, T Ishii, AM Barnes, MA Weis, N Amano, M Tanaka, R Fukuzawa, ... PLoS One 7 (5), e36809, 2012 | 36 | 2012 |
| The steroidogenic acute regulatory protein is expressed in steroidogenic cells of the day-old brain SR King, SD Ginsberg, T Ishii, RG Smith, KL Parker, DJ Lamb Endocrinology 145 (10), 4775-4780, 2004 | 36 | 2004 |
| Novel mutation of TBX3 in a Japanese family with Ulnar‐Mammary syndrome: Implication for impaired sex development G Sasaki, T Ogata, T Ishii, T Hasegawa, S Sato, N Matsuo American journal of medical genetics 110 (4), 365-369, 2002 | 35 | 2002 |
| Micropenis and the AR gene: mutation and CAG repeat-length analysis T Ishii, S Sato, K Kosaki, G Sasaki, K Muroya, T Ogata, N Matsuo The Journal of Clinical Endocrinology & Metabolism 86 (11), 5372-5378, 2001 | 34 | 2001 |
Tomonobu Hasegawa在 keio.jp 的电子邮件经过验证
