Associated Papers
Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism.
Tanikawa W et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.
Hye Kim J et al.
Endocrine Connections, 2023
Reproductive Phenotypes and Genotypes in Men With IHH.
Dwyer AA et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.
Nie M et al.
European Journal of Endocrinology, 2017
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development.
Fan Y et al.
Scientific Reports, 2017
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene.
Li J et al.
Meta Gene, 2016
Study on KAL1 Gene Mutations in Idiopathic Hypogonadotropic Hypogonadism Patients with X-Linked Recessive Inheritance.
Ahmadzadeh A et al.
International Journal of Molecular and Cellular Medicine, 2015
Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome.
Jap TS et al.
Journal of Endocrinological Investigation, 2011
[Mutation of the KAL1 gene in 30 male patients with idiopathic hypogonadotropic hypogonadism].
Ma C et al.
Zhonghua Nan Ke Xue = National Journal of Andrology, 2011
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations.
Francou B et al.
Plos One, 2011
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.
Georgopoulos NA et al.
Fertility and Sterility, 2007
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Isolated gonadotropic deficiency with and without anosmia: a developmental defect or a neuroendocrine regulation abnormality of the gonadotropic axis.
de Roux N
Hormone Research, 2005
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dodé C et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.
Sato N et al.
The Journal of Clinical Endocrinology and Metabolism, 2004