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The Journal of Clinical Endocrinology and Metabolism|August 26, 2020
Congenital Hypothyroidism Due to Truncating PAX8 Mutations: A Case Series and Molecular Function StudiesMegumi Iwahashi-Odano, Keisuke Nagasaki, Maki Fukami, et al.
Reproductive Medicine and Biology|September 25, 2024
Compound heterozygous <i>KCTD19</i> variants in a man with isolated nonobstructive azoospermiaYuki Muranishi, Yuko Katoh-Fukui, Atsushi Hattori, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 11, 2019
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, et al.
Clinical Epigenetics|November 7, 2025
Investigation of methylation profiles in Silver-Russell syndrome to explore episignaturesKaori Hara-Isono, Takanobu Inoue, Akie Nakamura, et al.
Clinical Epigenetics|May 27, 2021
ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbanceMasayo Kagami, Kaori Hara-Isono, Keiko Matsubara, et al.
Endocrine Journal|February 22, 2019
Dihydrotestosterone induces minor transcriptional alterations in genital skin fibroblasts of children with and without androgen insensitivityKanako Tanase-Nakao, Kentaro Mizuno, Yutaro Hayashi, et al.
The Journal of Biological Chemistry|December 29, 2007
Mastermind-like domain-containing 1 (MAMLD1 or CXorf6) transactivates the Hes3 promoter, augments testosterone production, and contains the SF1 target sequenceMaki Fukami, Yuka Wada, Michiyo Okada, et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|October 11, 2021
A case report with functional characterization of a <i>HNF1B</i> mutation (p.Leu168Pro) causing MODY5Kei Yoshida, Yuichi Mushimoto, Kanako Tanase-Nakao, et al.
Cytogenetic and Genome Research|July 29, 2024
Isodicentric Y Chromosome with Multiple Breakpoints in the Pseudoautosomal Region 1Yasuko Ogiwara, Yoshitomo Kobori, Erina Suzuki, et al.
BMC Medical Genomics|May 30, 2019
Transient multifocal genomic crisis creating chromothriptic and non-chromothriptic rearrangements in prezygotic testicular germ cellsAtsushi Hattori, Kohji Okamura, Yumiko Terada, et al.
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