Associated Papers
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.
Niu Y et al.
Journal of Medical Case Reports, 2023
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 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
Severe craniolacunae and upper and lower extremity anomalies resulting from Crouzon syndrome, FGFR2 mutation, and Ser347Cys variant.
Raposo-Amaral CE et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Genetic analysis of children with congenital ocular anomalies in three ecological regions of Nepal: a phase II of Nepal pediatric ocular diseases study.
Adhikari S et al.
Bmc Medical Genetics, 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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
Targeted sequencing in FGF/FGFR genes and association analysis of variants for mandibular prognathism.
Xiong X 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
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
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Rapid Identification of FGFR2 Gene Mutations in Taiwanese Patients With Endometrial Cancer Using High-resolution Melting Analysis.
Lin YC et al.
Applied Immunohistochemistry & Molecular Morphology : Aimm, 2015
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
Candidate Gene Analyses of Skeletal Variation in Malocclusion.
da Fontoura CS et al.
Journal of Dental Research, 2015
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG et al.
Pediatric Neurology, 2014
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ et al.
Journal of Cellular Biochemistry, 2014
Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Pandey RK et al.
Indian Journal of Human Genetics, 2013
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
FGFR2 molecular analysis and related clinical findings in one Chinese family with Crouzon syndrome.
Lin Y et al.
Molecular Vision, 2012
Fibroblast growth factor receptor 2 and its role in caudal appendage and craniosynostosis.
Sureka D et al.
The Journal of Craniofacial Surgery, 2010
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
Piccione M et al.
European Journal of Pediatrics, 2009
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
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.
Freitas EC et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2006
Mutation analysis of Crouzon syndrome in Taiwanese patients.
Chang CP et al.
Journal of Clinical Laboratory Analysis, 2006
Novel SNP at the common primer site of exon IIIa of FGFR2 gene causes error in molecular diagnosis of craniosynostosis syndrome.
Wong LJ et al.
American Journal of Medical Genetics, 2001
Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.
Tsai FJ et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2001
Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
Plotnikov AN et al.
Cell, 2000
FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models.
Kannan K et al.
Iubmb Life, 2000
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W et al.
Cytogenetics and Cell Genetics, 2000
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
Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.
Tartaglia M et al.
Human Genetics, 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
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
Oldridge M et al.
Human Molecular Genetics, 1995