Associated Papers
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Sheng H et al.
Orphanet Journal of Rare Diseases, 2025
[Clinical, genetic, and pathological analysis in 165 children with disorders of sex development].
Cao YY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
Liu Q et al.
Bmc Endocrine Disorders, 2022
Whole genome investigation of an atypical autism case identifies a novel ANOS1 mutation with subsequent diagnosis of Kallmann syndrome.
Dawson PA et al.
Molecular Genetics and Metabolism Reports, 2020
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson T et al.
Translational Psychiatry, 2020
CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks.
Deneault E et al.
Elife, 2019
A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing.
Lopategui DM et al.
Andrology, 2018
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
Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.
Jiang YH et al.
Critical Reviews in Clinical Laboratory Sciences, 2014
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Jiang YH 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
PROK2/PROKR2 Signaling and Kallmann Syndrome.
Dodé C et al.
Frontiers in Endocrinology, 2013
A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.
Sarfati J et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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
Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2).
Albuisson J et al.
Human Mutation, 2005
Kallmann syndrome: fibroblast growth factor signaling insufficiency?
Dodé C et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Analysis of the KAL1 gene in 19 Japanese patients with Kallmann syndrome.
Izumi Y et al.
Endocrine Journal, 2001
A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome.
Nagata K et al.
Journal of Human Genetics, 2000
A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.
Jansen C et al.
Hormone Research, 2000
A novel mutation of the KAL1 gene in Kallmann syndrome.
Izumi Y et al.
Endocrine Journal, 1999