Kumihiro Matsuo

Molecular Basis of Neonatal Diabetes in Japanese Patients

Shigeru Suzuki, Yoshio Makita, Tokuo Mukai et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 73 citations · Full text

Medicine, Endocrinology, Genetics +14

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Satoshi Narumi, Kumihiro Matsuo, Tomohiro Ishii et al. · PLoS ONE · 2013 · 52 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Glycated albumin but not HbA1c reflects glycaemic control in patients with neonatal diabetes mellitus

Shigeru Suzuki, Masafumi Koga, Satoshi Amamiya et al. · Diabetologia · 2011 · 45 citations · Full text

Medicine, Endocrinology, Pediatrics +12

A case of pancreatic agenesis and congenital heart defects with a novel <i>GATA</i><i>6</i> nonsense mutation: Evidence of haploinsufficiency due to nonsense‐mediated mRNA decay

Shigeru Suzuki, Atsushi Nakao, Ashoor R. Sarhat et al. · American Journal of Medical Genetics Part A · 2013 · 31 citations

Life Sciences, Genetics, Molecular Genetics +17

High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism

Kumihiro Matsuo, Yusuke Tanahashi, Tokuo Mukai et al. · Journal of Pediatric Endocrinology and Metabolism · 2016 · 31 citations

Life Sciences, Endocrinology, Genetics +10