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Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology|July 8, 2026
Severe infantile obesity with a maternal <i>GNAS</i> deletion and multi-locus imprinting disturbance including hypomethylation of the <i>KCNQ1OT1</i>:TSS-DMRTatsuki Urakawa, Masaharu Shimada, Shinichiro Sano, et al.Clinical Epigenetics|June 9, 2025
Multi-locus methylation analyses reveal GNAS methylation defects in three patients with the Beckwith-Wiedemann syndrome phenotype and no molecular defects in the 11p15.5 imprinted regionTatsuki Urakawa, Yuri Kanamaru, Naoko Amano, et al.The Journal of Obstetrics and Gynaecology Research|February 7, 2015
Prenatal findings and epimutations for paternal uniparental disomy for chromosome 14 syndromeTakafumi Watanabe, Hayato Go, Masayo Kagami, et al.Endocrine Journal|April 7, 2015
Growth hormone deficiency in monozygotic twins with autosomal dominant pseudohypoparathyroidism type IbShinichiro Sano, Hiromi Iwata, Keiko Matsubara, et al.European Journal of Human Genetics : EJHG|February 23, 2012
Relative frequency of underlying genetic causes for the development of UPD(14)pat-like phenotypeMasayo Kagami, Fumiko Kato, Keiko Matsubara, et al.Journal of Human Genetics|January 10, 2018
A severely short-statured girl with 47,XX, + 14/46,XX,upd(14)mat, mosaicismKikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, et al.Journal of Medical Genetics|July 29, 2022
<i>CDKN1C</i> hyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inherited <i>KCNQ1OT1</i>:TSS-DMRKaori Hara-Isono, Kazuki Yamazawa, Satsuki Tanaka, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 12, 2020
A Novel GNAS Duplication Associated With Loss-of-Methylation Restricted to Exon A/B Causes Pseudohypoparathyroidism Type Ib (PHP1B)Monica Reyes, Masayo Kagami, Sayaka Kawashima, et al.Journal of the Endocrine Society|January 31, 2018
(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type IShinichiro Sano, Akie Nakamura, Keiko Matsubara, et al.American Journal of Medical Genetics. Part A|January 25, 2014
Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutationRika Kosaki, Toshiki Takenouchi, Noriko Takeda, et al.Pageof 11