Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD.

Hasegawa Y, Ariyasu D, Izawa M, Igaki-Miyamoto J, Fukuma M, Hatano M, Yagi H, Goto M

Endocrine journal   64 ( 2 )   221 - 227   2017年02月

Syndromic disorder of sex development due to a novel hemizygous mutation in the carboxyl-terminal domain of <i>ATRX</i>.

Takagi M, Yagi H, Fukuzawa R, Narumi S, Hasegawa T

Human genome variation   4   17012   2017年

Five cases of childhood-onset Graves' disease treated with either surgery or radio-iodine therapy.

Tomari K, Goto M, Shimada A, Yagi H, Nagashima Y, Hasegawa Y

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   26 ( 4 )   265 - 269   2017年

A case of transient neonatal diabetes due to a novel mutation in <i>ABCC8</i>.

Takagi M, Takeda R, Yagi H, Ariyasu D, Fukuzawa R, Hasegawa T

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   25 ( 4 )   139 - 141   2016年10月

Early-onset urological disorders due to Wolfram syndrome: A case of neonatal onset.

Fukuma M, Ariyasu D, Hatano M, Yagi H, Hasegawa Y

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   25 ( 2 )   67 - 9   2016年04月

Stippled calcification in an infant with a recurrent SRCAP gene mutation.

Yagi H, Takagi M, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y

American journal of medical genetics. Part A   170A ( 4 )   1088 - 91   2016年04月

Novel heterozygous mutation in the extracellular domain of <i>FGFR1</i> associated with Hartsfield syndrome.

Takagi M, Miyoshi T, Nagashima Y, Shibata N, Yagi H, Fukuzawa R, Hasegawa T

Human genome variation   3   16034   2016年

Functional Characterization of c.870+3_6delGAGT Splice Site Mutation in NR5A1.

Takagi M, Nishina N, Yagi H, Hasegawa Y

Hormone research in paediatrics   85 ( 1 )   65 - 8   2016年

A case of a Japanese patient with neonatal diabetes mellitus caused by a novel mutation in the ABCC8 gene and successfully controlled with oral glibenclamide.

Takeda R, Takagi M, Miyai K, Shinohara H, Yagi H, Moritani M, Yokota I, Hasegawa Y

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   24 ( 4 )   191 - 3   2015年10月

A case of spondyloepiphyseal dysplasia tarda caused by a novel intragenic deletion of TRAPPC2.

Takagi M, Yagi H, Nakamura Y, Shinohara H, Takeda R, Shimada A, Nishimura G, Hasegawa Y

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology   24 ( 3 )   139 - 41   2015年07月

Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger.

Yagi H, Takagi M, Hasegawa Y, Kayserili H, Nishimura G

Pediatric radiology   45 ( 8 )   1239 - 43   2015年07月

Fertility preservation in a family with a novel NR5A1 mutation.

Yagi H, Takagi M, Kon M, Igarashi M, Fukami M, Hasegawa Y

Endocrine journal   62 ( 3 )   289 - 95   2015年