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Hormone Research in Paediatrics|November 28, 2013
De novo frameshift mutation in fibroblast growth factor 8 in a male patient with gonadotropin deficiencyErina Suzuki, Shuichi Yatsuga, Maki Igarashi, et al.
The Tohoku Journal of Experimental Medicine|October 1, 2013
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisolMasayuki Hayashi, Yuko Kataoka, Yoshihisa Sugimura, et al.
Endocrine Journal|June 30, 2017
SOX2 nonsense mutation in a patient clinically diagnosed with non-syndromic hypogonadotropic hypogonadismHirohito Shima, Akira Ishii, Yasunori Wada, et al.
The Journal of Reproduction and Development|August 30, 2019
Exploring disease-specific methylated CpGs in human male genital abnormalities by using methylated-site display-amplified fragment length polymorphism (MSD-AFLP)Toshiki Aiba, Toshiyuki Saito, Akiko Hayashi, et al.
Human Genetics|April 17, 2010
A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiencyLiat Ashkenazi-Hoffnung, Yael Lebenthal, Alexander W Wyatt, et al.
The Journal of Clinical Endocrinology and Metabolism|October 3, 2025
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic HypogonadismWataru Tanikawa, Shingo Okamoto, Osamu Ohara, et al.
Human Mutation|January 15, 2017
FGFR1 Analyses in Four Patients with Hypogonadotropic Hypogonadism with Split-Hand/Foot Malformation: Implications for the Promoter RegionKohnosuke Ohtaka, Yasuko Fujisawa, Fumio Takada, et al.
The Journal of Clinical Endocrinology and Metabolism|November 25, 2020
Role of Imprinting Disorders in Short Children Born SGA and Silver-Russell Syndrome SpectrumTomoko Fuke, Akie Nakamura, Takanobu Inoue, et al.
Scientific Reports|October 16, 2020
Nonsense-associated altered splicing of MAP3K1 in two siblings with 46,XY disorders of sex developmentMaki Igarashi, Yohei Masunaga, Yuichi Hasegawa, et al.
The Journal of Clinical Endocrinology and Metabolism|May 18, 2022
Pathogenic Copy Number and Sequence Variants in Children Born SGA With Short Stature Without Imprinting DisordersKaori Hara-Isono, Akie Nakamura, Tomoko Fuke, et al.
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