Noriyuki Katsumata

SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7

Satoshi Narumi, Naoko Amano, Tomohiro Ishii et al. · Nature Genetics · 2016 · 333 citations

Life Sciences, Genetics, Molecular Genetics +11

Clinical Assessment and Mutation Analysis of Kallmann Syndrome 1 (<i>KAL1</i>) and Fibroblast Growth Factor Receptor 1 (<i>FGFR1</i>, or<i>KAL2</i>) in Five Families and 18 Sporadic Patients

Naoko Sato, Noriyuki Katsumata, Masayo Kagami et al. · The Journal of Clinical Endocrinology & Metabolism · 2004 · 220 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Standardized centile curves and reference intervals of serum insulin-like growth factor-I (IGF-I) levels in a normal Japanese population using the LMS method

Tsuyoshi Isojima, Akira Shimatsu, Susumu Yokoya et al. · Endocrine Journal · 2012 · 212 citations · Full text

Agriculture, Endocrinology, Nutrition +14

Compound Heterozygous Mutations in the Cholesterol Side-Chain Cleavage Enzyme Gene (<i>CYP11A</i>) Cause Congenital Adrenal Insufficiency in Humans

Noriyuki Katsumata, Masatoshi Ohtake, Toru Hojo et al. · The Journal of Clinical Endocrinology & Metabolism · 2002 · 116 citations

Life Sciences, Endocrinology, Genetics +17

Expression of insulin-like growth factor 1 receptor in primary breast cancer: Immunohistochemical analysis

Chikako Shimizu, Tadashi Hasegawa, Yoichi Tani et al. · Human Pathology · 2004 · 109 citations

Medicine, Cancer Biology, Oncology +14