Associated Papers
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S10_Screen_data_table
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5
The evaluation of ovarian function in normosmic idiopathic hypogonadotropic hypogonadism with a fibroblast growth factor receptor 1 mutation: a case report.
Wang L et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological 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
36407308 (PubMed )
Supplement: Table_1.docx
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
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
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR).
Gianetti E et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction.
Miraoui H et al.
Molecular and Cellular Endocrinology, 2011
Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes.
Sykiotis GP 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
Peptide YY (PYY) Gene Polymorphisms in the 3'-Untranslated Region and Proximal Promoter Regions Regulate Cellular Gene Expression and PYY Secretion and Metabolic Syndrome Traits in Vivo.
Shih PB et al.
Endocrine Reviews, 2009
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism.
Raivio T et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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