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

Satoshi Narumi, Naoko Amano, Tomohiro Ishii, +36

Nature Genetics

Mendelian DisorderGenetic DisorderMirage SyndromeGeneticsSamd9 Mutations +7

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, +6

The Journal of Clinical Endocrinology & Metabolism

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

Naoko Amano, Tokuo Mukai, Yoshiya Ito, +5

The Journal of Clinical Endocrinology & Metabolism

Genetic defects in pediatric-onset adrenal insufficiency in Japan

Naoko Amano, Satoshi Narumi, Mie Hayashi, +8

European Journal of Endocrinology

The Effect of Intramuscular Testosterone Enanthate Treatment on Stretched Penile Length in Prepubertal Boys With Hypospadias

Tomohiro Ishii, Mie Hayashi, Ayuko S. Suwanai, +2

Urology

InfertilityAndrologyUrologyFertilityStretched Penile Length +10

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, +8

PLoS ONE

SclerostinGeneticsBone RepairMolecular BiologyOsteogenesis +22

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

Masaki Takagi, Tomohiro Ishii, Mikako Inokuchi, +7

PLoS ONE

Prevalence and associated factors of foot and ankle pain among nurses at a university hospital in Japan: A cross-sectional study

Maki Tojo, Satoshi Yamaguchi, Naoko Amano, +8

Journal of Occupational Health

MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency

Hirohito Shima, Mie Hayashi, Takashi Tachibana, +11

PLoS ONE

Species Difference in Intestinal Absorption Mechanism of Etoposide and Digoxin between Cynomolgus Monkey and Rat

Tomohiro Nishimura, Yukio Kato, Naoko Amano, +5

Pharmaceutical Research

Species DifferenceGastrointestinal PharmacologyMedicinePhysiologyFood Digestion +6