Associated Papers
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia-FGFR2-Related.
Bates C et al.
American Journal of Medical Genetics. Part A, 2025
A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.
Garmezy B et al.
Cancer Research Communications, 2024
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Next-Generation Sequencing of Synchronous Multiple Primary Lung Cancers in a Patient with Squamous Cell Carcinoma and Small Cell Lung Cancer.
Wu X et al.
Oncotargets and Therapy, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease.
Tuzon CT et al.
Current Osteoporosis Reports, 2019
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.
Salva JE et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2019
Genetic Causes of Craniosynostosis: An Update.
Goos JAC et al.
Molecular Syndromology, 2019
Clinical genetics of craniosynostosis.
Wilkie AOM et al.
Current Opinion in Pediatrics, 2017
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.
Neben CL et al.
Human Molecular Genetics, 2017
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Krakow D et al.
American Journal of Medical Genetics. Part A, 2016
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M et al.
American Journal of Medical Genetics. Part A, 2016
Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.
Handa A et al.
Pediatric Radiology, 2016
Fibroblast growth factor signaling in skeletal development and disease.
Ornitz DM et al.
Genes & Development, 2015
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
Neben CL et al.
Human Molecular Genetics, 2014
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.
Collet C et al.
Clinical Genetics, 2014
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
Merrill AE et al.
American Journal of Human Genetics, 2012