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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|September 19, 2025
Imprinting and skeletal disorders: lessons from pseudohypoparathyroidism and related disordersYorihiro Iwasaki, Murat BastepeJCI Insight|January 30, 2024
GNAS AS2 methylation status enables mechanism-based categorization of pseudohypoparathyroidism type 1BYorihiro Iwasaki, Monica Reyes, Harald Jüppner, et al.Nature Communications|February 5, 2025
A biallelically active embryonic enhancer dictates GNAS imprinting through allele-specific conformationsYorihiro Iwasaki, Monica Reyes, Harald Jüppner, et al.Internal Medicine (Tokyo, Japan)|October 6, 2011
Two adjacent mutations on chromosome 16 discovered in a patient presenting with generalized convulsions after influenza A virus infectionYorihiro Iwasaki, Makio Takahashi, Kandai Nozu, et al.The Journal of Clinical Endocrinology and Metabolism|November 6, 2021
Sporadic Pseudohypoparathyroidism Type 1B in Monozygotic Twins: Insights Into the Pathogenesis of Methylation DefectsYamato Keidai, Yorihiro Iwasaki, Kanako Iwasaki, et al.The Journal of Clinical Investigation|February 28, 2023
The long-range interaction between two GNAS imprinting control regions delineates pseudohypoparathyroidism type 1B pathogenesisYorihiro Iwasaki, Cagri Aksu, Monica Reyes, et al.Journal of Diabetes Investigation|June 22, 2022
Plant sterol hyperabsorption caused by uncontrolled diabetes in a patient with a heterozygous ABCG5 variantMasashi Hasebe, Yorihiro Iwasaki, Yamato Keidai, et al.Journal of Diabetes Investigation|January 20, 2019
"Switched" metabolic acidosis in mitochondrial diabetes mellitusYamato Keidai, Yorihiro Iwasaki, Sachiko Honjo, et al.Endocrine|October 21, 2010
Japanese cases of acute onset diabetic ketosis without acidosis in the absence of glutamic acid decarboxylase autoantibodyYorihiro Iwasaki, Yoshiyuki Hamamoto, Yukiko Kawasaki, et al.Journal of Diabetes Investigation|August 8, 2019
Facilitating screening of Klinefelter syndrome among patients with diabetesYohei Seno, Yorihiro Iwasaki, Megumi Aizawa-Abe, et al.Pageof 3