Ikuma Fujiwara

Urine Steroid Hormone Profile Analysis in Cytochrome P450 Oxidoreductase Deficiency: Implication for the Backdoor Pathway to Dihydrotestosterone

Keiko Homma, Tomonobu Hasegawa, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 2006 · 155 citations · Full text

Life Sciences, Biochemistry, Endocrinology +17

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Jennifer J. Johnston, Julie C. Sapp, Joyce Turner et al. · Human Mutation · 2010 · 129 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Molecular and clinical analysis of<i>RAF1</i>in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori et al. · Human Mutation · 2010 · 126 citations

Life Sciences, Genetics, Molecular Genetics +13

Psychological distress during pregnancy in Miyagi after the Great East Japan Earthquake: The Japan Environment and Children's Study

Zen Watanabe, Noriyuki Iwama, Hidekazu Nishigori et al. · Journal of Affective Disorders · 2015 · 82 citations

Medicine, Obstetrics, Psychiatry +16

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1–PPP1CB complexes

Ikumi Umeki, Tetsuya Niihori, Taiki Abe et al. · Human Genetics · 2018 · 81 citations

Life Sciences, Genetics, Molecular Genetics +6