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_S6
Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.
Rueda-Gaitán P et al.
Frontiers in Pediatrics, 2025
40918675 (PubMed )
Supplement: Table1.xlsx › VARIANTS
FGFR1 variants contributed to families with tooth agenesis.
Yao S et al.
Human Genomics, 2023
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M et al.
Human Genetics, 2016
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
Disease-causing mutation in extracellular and intracellular domain of FGFR1 protein: computational approach.
Rajith B et al.
Applied Biochemistry and Biotechnology, 2013
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations.
Bailleul-Forestier I et al.
International Journal of Paediatric Dentistry, 2010
Idiopathic hypogonadotropic hypogonadism in a mother and her monozygotic twins born after a single embryo transfer.
Laitinen EM et al.
Fertility and Sterility, 2010
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.
Kim SH et al.
Journal of Neuroendocrinology, 2008
Genetic insights into human isolated gonadotropin deficiency.
Trarbach EB et al.
Pituitary, 2007
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1).
Zenaty D et al.
Molecular and Cellular Endocrinology, 2006
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