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American Journal of Human Genetics|December 7, 2014
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instabilityMichelle A Wood-Trageser, Fatih Gurbuz, Svetlana A Yatsenko, et al.Journal of Clinical Research in Pediatric Endocrinology|April 19, 2016
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1Leman Damla Kotan, Charlton Cooper, Şükran Darcan, et al.Biochimica Et Biophysica Acta|April 11, 2014
A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisationBrenna Osborne, Tsun-Wen Yao, Xin Maggie Wang, et al.The Journal of Clinical Endocrinology and Metabolism|September 17, 2009
Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptorTulay Guran, Gwen Tolhurst, Abdullah Bereket, et al.Nature Genetics|December 17, 2008
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproductionA Kemal Topaloglu, Frank Reimann, Metin Guclu, et al.Frontiers in Endocrinology|August 21, 2023
POU6F2 mutation in humans with pubertal failure alters GnRH transcript expressionHyun-Ju Cho, Fatih Gurbuz, Maria Stamou, et al.American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.Journal of Clinical Research in Pediatric Endocrinology|July 7, 2012
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadismFatih Gürbüz, L Damla Kotan, Eda Mengen, et al.The Journal of Clinical Endocrinology and Metabolism|July 18, 2014
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndromeA Kemal Topaloglu, Alejandro Lomniczi, Doris Kretzschmar, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 26, 2021
Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadismLeman Damla Kotan, Gaetan Ternier, Aydilek Dagdeviren Cakir, et al.Pageof 4