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_MOESM5_ESM.xlsx › Figure_4a
Intrafamilial Phenotypic Variability of the FGFR1 p.Cys277Tyr Variant: A Case Report and Review of the Literature.
Szoszkiewicz A et al.
Genes, 2025
IRF6 and FGF1 polymorphisms in non-syndromic cleft lip with or without cleft palate in the Polish population.
Zawiślak A et al.
Open Medicine (warsaw, Poland), 2023
Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome.
Shu M et al.
International Journal of Endocrinology, 2022
Likely Pathogenic Variants in One Third of Non-Syndromic Discontinuous Cleft Lip and Palate Patients.
Demeer B et al.
Genes, 2019
New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.
Amato LGL et al.
European Journal of Endocrinology, 2019
Childhood growth of females with Kallmann syndrome and FGFR1 mutations.
Hero M et al.
Clinical Endocrinology, 2015
FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.
Simonis N et al.
Journal of Medical Genetics, 2013
Genetic and environmental risk factors for submucous cleft palate.
Reiter R et al.
European Journal of Oral Sciences, 2012
Development of the lip and palate: FGF signalling.
Stanier P et al.
Frontiers of Oral Biology, 2012
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland.
Laitinen EM et al.
Orphanet Journal of Rare Diseases, 2011
Sequence evaluation of FGF and FGFR gene conserved non-coding elements in non-syndromic cleft lip and palate cases.
Riley BM et al.
American Journal of Medical Genetics. Part A, 2007
FGF signalling and SUMO modification: new players in the aetiology of cleft lip and/or palate.
Pauws E et al.
Trends in Genetics : Tig, 2007
Impaired FGF signaling contributes to cleft lip and palate.
Riley BM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
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