Associated Papers
Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.
Guberman G et al.
Pediatric Neurology, 2026
Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome.
Poch A et al.
Molecular and Cellular Endocrinology, 2024
Identification of two compound heterozygous GNRHR mutations in two siblings with congenital hypogonadotropic hypogonadism.
Wang XB et al.
Asian Journal of Andrology, 2024
Genetic spectrum of Kallmann syndrome: Single-center experience and systematic review.
Patil VA et al.
Clinical Endocrinology, 2022
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Heidet L et al.
Journal of the American Society of Nephrology : Jasn, 2017
Analysis of genetic and clinical characteristics of a Chinese Kallmann syndrome cohort with ANOS1 mutations.
Nie M et al.
European Journal of Endocrinology, 2017
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
Sarfati J et al.
Orphanet Journal of Rare Diseases, 2015
Genetics of congenital hypogonadotropic hypogonadism in Denmark.
Tommiska J et al.
European Journal of Medical Genetics, 2014
Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome.
Montenegro LR et al.
Fertility and Sterility, 2013
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome.
Quaynor SD et al.
Fertility and Sterility, 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
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
Bhagavath B et al.
Molecular Human Reproduction, 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: fibroblast growth factor signaling insufficiency?
Dodé C et al.
Journal of Molecular Medicine (berlin, Germany), 2004
Human gene mutations causing infertility.
Layman LC
Journal of Medical Genetics, 2002
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