Associated Papers
Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.
Palollathil A et al.
Proteomes, 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
Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.
Niu Y et al.
Journal of Medical Case Reports, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon JG et al.
Neurosurgery, 2020
Inherited FGFR2 mutation in a Chinese patient with Crouzon syndrome and luxation of bulbus oculi provoked by trauma: a case report.
Yang J et al.
Bmc Ophthalmology, 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
Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome.
Luong ALT et al.
Biomedical Reports, 2019
An inherited FGFR2 mutation increased osteogenesis gene expression and result in Crouzon syndrome.
Fan J et al.
Bmc Medical Genetics, 2018
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
Xu Y et al.
Gene, 2018
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 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
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
Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.
Bochukova EG et al.
Journal of Medical Genetics, 2010
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
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie E et al.
European Journal of Human Genetics : Ejhg, 2006
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
Expression profiles of craniosynostosis-derived fibroblasts.
Carinci F et al.
Molecular Medicine (cambridge, Mass.), 2002
Basic fibroblast growth factor: effects on matrix remodeling, receptor expression, and transduction pathway in human periosteal fibroblasts with FGFR2 gene mutation.
Bodo M et al.
Journal of Interferon & Cytokine Research : the Official Journal of the International Society for Interferon and Cytokine Research, 2002
De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome.
Oldridge M et al.
American Journal of 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
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM
Pediatric Radiology, 1997
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Park WJ et al.
American Journal of Human Genetics, 1995
Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.
Gorry MC et al.
Human Molecular Genetics, 1995
Pfeiffer syndrome is not caused by haploinsufficient mutations of FGFR2.
Johnson D et al.
Journal of Craniofacial Genetics and Developmental Biology, 0