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Clinical Epigenetics|September 1, 2015
Exploration of hydroxymethylation in Kagami-Ogata syndrome caused by hypermethylation of imprinting control regionsKeiko Matsubara, Masayo Kagami, Kazuhiko Nakabayashi, et al.Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders|January 17, 2018
Effectiveness of Sodium-Glucose Cotransporter-2 Inhibitor as an Add-on Drug to GLP-1 Receptor Agonists for Glycemic Control of a Patient with Prader-Willi Syndrome: A Case ReportYukio Horikawa, Mayumi Enya, Makie Komagata, et al.Clinical Epigenetics|July 24, 2020
Assisted reproductive technology represents a possible risk factor for development of epimutation-mediated imprinting disorders for mothers aged ≥ 30 yearsKaori Hara-Isono, Keiko Matsubara, Masashi Mikami, et al.European Journal of Medical Genetics|April 15, 2022
A boy with overgrowth caused by multi-locus imprinting disturbance including hypomethylation of MEST:alt-TSS-DMRHiromune Narusawa, Sunao Sasaki, Kaori Hara-Isono, et al.Internal Medicine (Tokyo, Japan)|May 15, 2024
A Male Japanese Patient with Temple Syndrome Complicated by Type 2 Diabetes MellitusMasanori Iwanishi, Tohru Yorifuji, Yukako Yamamoto, et al.Journal of Human Genetics|November 28, 2014
Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1CShinichi Nakashima, Fumiko Kato, Tomoki Kosho, et al.European Journal of Human Genetics : EJHG|October 30, 2014
Epimutations of the IG-DMR and the MEG3-DMR at the 14q32.2 imprinted region in two patients with Silver-Russell Syndrome-compatible phenotypeMasayo Kagami, Seiji Mizuno, Keiko Matsubara, et al.European Journal of Medical Genetics|November 19, 2022
Beckwith-Wiedemann syndrome with long QT caused by a deletion involving KCNQ1 but not KCNQ1OT1:TSS-DMRTatsuki Urakawa, Junichi Ozawa, Masato Tanaka, et al.Clinical Case Reports|January 19, 2019
Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorderTakuro Kimura, Masayo Kagami, Keiko Matsubara, et al.The Journal of Steroid Biochemistry and Molecular Biology|March 5, 2016
Combined steroidogenic characters of fetal adrenal and Leydig cells in childhood adrenocortical carcinomaYasuko Fujisawa, Kimiyoshi Sakaguchi, Hiroyuki Ono, et al.Pageof 11