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
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.
Ogawa JT et al.
American Journal of Medical Genetics. Part A, 2025
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A et al.
Pediatric Research, 2019
Clinical genetics of craniosynostosis.
Wilkie AOM et al.
Current Opinion in Pediatrics, 2017
Genetic advances in craniosynostosis.
Lattanzi W et al.
American Journal of Medical Genetics. Part A, 2017
Mutation c.943G>T (p.Ala315Ser) in FGFR2 Causing a Mild Phenotype of Crouzon Craniofacial Dysostosis in a Three-Generation Family.
Graul-Neumann LM et al.
Molecular Syndromology, 2017
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.
Heuzé Y et al.
Current Genetic Medicine Reports, 2014
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
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.
Lattanzi W et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.
Wilkie AO et al.
Pediatrics, 2010
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
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
de Ravel TJ et al.
European Journal of Human Genetics : Ejhg, 2005
Structural basis for fibroblast growth factor receptor activation.
Mohammadi M et al.
Cytokine & Growth Factor Reviews, 2005
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
FGF signaling in the developing endochondral skeleton.
Ornitz DM
Cytokine & Growth Factor Reviews, 2005
Advances in the molecular pathogenesis of craniofacial conditions.
Britto JA
Oral and Maxillofacial Surgery Clinics of North America, 2004
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
Ibrahimi OA et al.
Human Molecular Genetics, 2004
Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line.
Goriely A et al.
Science (new York, N.y.), 2003
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
Wilkie AO et al.
American Journal of Medical Genetics, 2002
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan SH et al.
American Journal of Human Genetics, 2002
A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.
Elanko N et al.
Human Mutation, 2001
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Johnson D et al.
European Journal of Human Genetics : Ejhg, 2000