ESPE Abstracts Search

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A Case of 46,Y,dup(x)(p21.2p22.2) DSD Caused by Overexpressed DAX1 | ESPE2014
Sasaki Takako; Izumi Youko; Fukami Maki; Yatsuga Shuichi; Koga Yasutoshi
http://abstracts.eurospe.org/hrp/0082/hrp0082p3-d2-971.htm
Published: 2014-08-28

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Methylation Status of X Inactivation-Escape Genes in Controls and Females with X Chromosome Rearrangements | ESPE2019
Sayaka Kawashima; Keiko Matsubara; Machiko Toki; Rika Kosaki; Yukihiro Hasegawa; Maki Fukami; Masayo Kagami
http://abstracts.eurospe.org/hrp/0092/hrp0092P1-140
Published: 2019-08-22

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IGF2 Mutations: Report of Six Japanese Cases and Phenotypic Comparison with H19/IGF2:IG-DMR Epimutations Including Literature Cases | ESPE2019
Yohei Masunaga; Takanobu Inoue; Kaori Yamoto; Yasuko Fujisawa; Yasuhiro Sato; Yuki Kawashima-Sonoyama; Yasuhisa Ohata; Noriyuki
http://abstracts.eurospe.org/hrp/0092/hrp0092T16
Published: 2019-08-22

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Imprinting Defects and Copy Number Variations in Short Children Born Small for Gestational Age | ESPE2019
Masayo Kagami; Akie Nakamura; Takanobu Inoue; Sayaka Kawashima; Kaori Hara; Tomoko Fuke; Keiko Mastubara; Maki Fukami; Tsutomu O
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC12.3
Published: 2019-08-22

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Low Prevalence of Maternal Microchimerism in Japanese Children with Type 1 Diabetes | ESPE2019
Kikumi Ushijima; Nobuyuki Kikuchi; Toru Kikuchi; Tomoyuki Kawamura; Tatsuhiko Urakami; Shin Amemiya; Tsutomu Ogata; Ichiro Yokot
http://abstracts.eurospe.org/hrp/0092/hrp0092RFC1.1
Published: 2019-08-22

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Germline-Derived Gain-of-Function Variants of Gsa-Coding GNAS Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis: The First Report | ESPE2019
Maki Fukami; Mami Miyado; Shuji Takada; Goro Sasaki; Keisuke Nagasaki; Youhei Masunaga; Hirotomo Saitsu; Tsutomu Ogata
http://abstracts.eurospe.org/hrp/0092/hrp0092FC3.1
Published: 2019-08-22

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