Associated Papers
Clinical and prognostic characteristics of renal hypodysplasia in children: insights from a 10-year single-center cohort.
Li N et al.
Pediatric Nephrology (berlin, Germany), 2026
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
ANOS1 variants in a large cohort of Chinese patients with congenital hypogonadotropic hypogonadism.
Zeng W et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2022
SLIT2 Rare Sequencing Variants Identified in Idiopathic Hypogonadotropic Hypogonadism.
Wu J et al.
Hormone Research in Paediatrics, 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
Treatment of gonadotropin deficiency during the first year of life: long-term observation and outcome in five boys.
Kohva E et al.
Human Reproduction (oxford, England), 2019
Recombinant Human FSH Treatment Outcomes in Five Boys With Severe Congenital Hypogonadotropic Hypogonadism.
Kohva E et al.
Journal of the Endocrine Society, 2018
Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
Gonçalves CI et al.
Human Reproduction (oxford, England), 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
Mutation analyses in pedigrees and sporadic cases of ethnic Han Chinese Kallmann syndrome patients.
Gu WJ et al.
Experimental Biology and Medicine (maywood, N.j.), 2015
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
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
Miraoui H et al.
American Journal of Human Genetics, 2013
The cysteine-rich region and the whey acidic protein domain are essential for anosmin-1 biological functions.
Esteban PF et al.
Journal of Neurochemistry, 2013
GnRH-deficient phenotypes in humans and mice with heterozygous variants in KISS1/Kiss1.
Chan YM et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Genetic counseling for isolated GnRH deficiency.
Au MG et al.
Molecular and Cellular Endocrinology, 2011
Human GnRH deficiency: a unique disease model to unravel the ontogeny of GnRH neurons.
Balasubramanian R et al.
Neuroendocrinology, 2010
Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche.
Gajdos ZK et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
[X-linked Kallmann's syndrome: intra and interfamilial heterogeneity].
Vidal A et al.
Medicina Clinica, 2007
Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.
Tsai PS et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients.
Trarbach EB et al.
The Journal of Endocrinology, 2005
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J et al.
Human Mutation, 2005
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
Clinical and molecular analysis of human reproductive disorders in Brazilian patients.
Latronico AC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.
Oliveira LM et al.
The Journal of Clinical Endocrinology and Metabolism, 2001