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Clinical Epigenetics|July 1, 2021
Methylation status of genes escaping from X-chromosome inactivation in patients with X-chromosome rearrangementsSayaka Kawashima, Atsushi Hattori, Erina Suzuki, et al.
Hormone Research in Paediatrics|March 1, 2014
Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndromeReiko Saito, Yukiyo Yamamoto, Motohide Goto, et al.
Cytogenetic and Genome Research|January 19, 2017
Complex X-Chromosomal Rearrangements in Two Women with Ovarian Dysfunction: Implications of Chromothripsis/Chromoanasynthesis-Dependent and -Independent Origins of Complex Genomic AlterationsErina Suzuki, Hirohito Shima, Machiko Toki, et al.
Clinical Epigenetics|March 9, 2019
Temple syndrome in a patient with variably methylated CpGs at the primary MEG3/DLK1:IG-DMR and severely hypomethylated CpGs at the secondary MEG3:TSS-DMRMasayo Kagami, Atsuhiro Yanagisawa, Miyuki Ota, et al.
Pediatric Diabetes|May 25, 2019
KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetesKikumi Ushijima, Satoshi Narumi, Tsutomu Ogata, et al.
The Journal of Steroid Biochemistry and Molecular Biology|September 23, 2023
Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosisYasuko Fujisawa, Yohei Masunaga, Wataru Tanikawa, et al.
Human Gene Therapy|July 15, 2022
Adeno-Associated Virus-Mediated Gene Therapy for Patients' Fibroblasts, Induced Pluripotent Stem Cells, and a Mouse Model of Congenital Adrenal HyperplasiaYasuhiro Naiki, Mami Miyado, Miyuki Shindo, et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation|February 3, 2018
Phenotypic Variation in 46,XX Disorders of Sex Development due to the NR5A1 p.R92W Variant: A Sibling Case Report and Literature ReviewKei Takasawa, Maki Igarashi, Makoto Ono, et al.
Respiratory Investigation|April 17, 2019
Microdeletion in Xq28 with a polymorphic inversion in a patient with FLNA-associated progressive lung diseaseKeisuke Yoshii, Hideki Matsumoto, Kyoko Hirasawa, et al.
Journal of Human Genetics|September 15, 2025
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndromeSachiko Nishina, Kaoruko Torii, Shizuka Ishitani, et al.
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