Naoko Amano

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

Heterozygous Mutations in Natriuretic Peptide Receptor-B (<i>NPR2</i>) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short Stature

Gabriela A. Vasques, Naoko Amano, Ana Docko et al. · The Journal of Clinical Endocrinology & Metabolism · 2013 · 136 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Identification and Functional Characterization of Two Novel <i>NPR2</i> Mutations in Japanese Patients With Short Stature

Naoko Amano, Tokuo Mukai, Yoshiya Ito et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 77 citations

Medicine, Genetics, Molecular Genetics +17

Genetic defects in pediatric-onset adrenal insufficiency in Japan

Naoko Amano, Satoshi Narumi, Mie Hayashi et al. · European Journal of Endocrinology · 2017 · 62 citations

Life Sciences, Endocrinology, Genetics +17

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta

Masaki Takagi, Tomohiro Ishii, Aileen M. Barnes et al. · PLoS ONE · 2012 · 37 citations · Full text

Medicine, Genetics, Molecular Biology +16