Yasuhiro Naiki

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 · 219 citations · Full text

Cytochrome P450 Oxidoreductase Gene Mutations and Antley-Bixler Syndrome with Abnormal Genitalia and/or Impaired Steroidogenesis: Molecular and Clinical Studies in 10 Patients

Maki Fukami, Reiko Horikawa, Toshiro Nagai et al. · The Journal of Clinical Endocrinology & Metabolism · 2005 · 158 citations · Full text

Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients

Masayo Kagami, Keisuke Nagasaki, Rika Kosaki et al. · Genetics in Medicine · 2017 · 122 citations · Full text

Congenitally Defective Aldosterone Biosynthesis in Humans: Inactivation of the P450C18 Gene (CYP11B2) Due to Nucleotide Deletion in CMO I-Deficient Patients

Yasuhiro Mitsuuchi, Takeshi Kawamoto, Katsunori Miyahara et al. · Biochemical and Biophysical Research Communications · 1993 · 92 citations

Genetics, Physiology, P450c18 Gene +5

Congenitally defective aldosterone biosynthesis in humans: The involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients

Yasuhiro Mitsuuchi, Takeshi Kawamoto, Ariel Rösler et al. · Biochemical and Biophysical Research Communications · 1992 · 56 citations

Point Mutations, P-450c18 Gene, Genetics +4