Associated Papers
Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.
Yin X et al.
Nature Communications, 2025
Enhancing oral squamous cell carcinoma prediction: the prognostic power of the worst pattern of invasion and the limited impact of molecular resection margins.
Hurník P et al.
Frontiers in Oncology, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Atli EI et al.
The Journal of Craniofacial Surgery, 2021
Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
Morice A et al.
Bone, 2020
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
C GP et al.
Applied Biochemistry and Biotechnology, 2013
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
FGF signaling: its role in bone development and human skeleton diseases.
Su N et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis.
Chen CP et al.
Prenatal Diagnosis, 2003
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
Pregnancy following preimplantation genetic diagnosis for Crouzon syndrome.
Abou-Sleiman PM et al.
Molecular Human Reproduction, 2002
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.
Robertson SC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D et al.
Human Genetics, 1998
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
Pulleyn LJ et al.
European Journal of Human Genetics : Ejhg, 1996