Associated Papers
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
Boudellioua I et al.
Scientific Reports, 2018
30279426 (PubMed )
Supplement: 41598_2018_32876_MOESM1_ESM.pdf
KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism.
Xu C et al.
Embo Molecular Medicine, 2017
28754744 (PubMed )
Supplement: EMMM-9-1379-s001.pdf
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
Modulation of Fgfr1a signaling in zebrafish reveals a genetic basis for the aggression-boldness syndrome.
Norton WH et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Molecular pathogenesis of Kallmann's syndrome.
Cadman SM et al.
Hormone Research, 2007
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