Associated Papers
Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.
Shi H et al.
Medicine, 2021
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 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
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
Yu D et al.
Medicine, 2017
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Ohishi A et al.
American Journal of Medical Genetics. Part A, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
Chokdeemboon C et al.
The Journal of Craniofacial Surgery, 2013
Ala344Pro mutation in the FGFR2 gene and related clinical findings in one Chinese family with Crouzon syndrome.
Lin Y et al.
Molecular Vision, 2012
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
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
Stenirri S et al.
Clinical Chemistry, 2007
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
Shotelersuk V et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 2001
Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
Plotnikov AN et al.
Cell, 2000
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Cornejo-Roldan LR et al.
Human Genetics, 1999
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
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
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus GA et al.
Nature Genetics, 1996