Associated Papers
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Complementary modes of resistance to EGFR TKI in lung adenocarcinoma through MAPK activation and cellular plasticity.
Zatzman M et al.
Biorxiv : the Preprint Server for Biology, 2025
Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.
Yi T et al.
Esc Heart Failure, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 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
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
[Crouzon syndrome with secretory otitis media: a case report and literature review].
Chen J et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2019
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
Apostolopoulou D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018
Tracheal cartilaginous sleeves in children with syndromic craniosynostosis.
Wenger TL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes MB et al.
American Journal of Medical Genetics. Part A, 2016
Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.
Paumard-Hernández B et al.
European Journal of Human Genetics : Ejhg, 2015
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.
Cerrato FE et al.
Plastic and Reconstructive Surgery, 2014
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ et al.
Journal of Cellular Biochemistry, 2014
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical 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
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
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
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
Hatch NE et al.
The Journal of Biological Chemistry, 2006
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
Sequence analysis of fibroblast growth factor receptor 2 ( FGFR2 ) in Japanese patients with craniosynostosis.
Sakai N et al.
The Journal of Craniofacial Surgery, 2001
Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.
Robson CD et al.
Ajnr. American Journal of Neuroradiology, 2000
Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
Plotnikov AN et al.
Cell, 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
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
Galvin BD et al.
Proceedings of the National Academy of Sciences of the United States of America, 1996
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Ma HW et al.
Human Genetics, 1995
Molecular modeling based mutagenesis defines ligand binding and specificity determining regions of fibroblast growth factor receptors.
Gray TE et al.
Biochemistry, 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
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Park WJ et al.
Human Molecular Genetics, 1995
The genetic background of craniosynostosis syndromes.
Heutink P et al.
European Journal of Human Genetics : Ejhg, 1995
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
Reardon W et al.
Nature Genetics, 1994
Severe Cloverleaf Skull Deformity in c.1061C>G (p.Ser354Cys) Mutated Fibroblast Growth Factor Receptor 2 Gene in Crouzon Syndrome.
Chaisrisawadisuk S et al.
The Journal of Craniofacial Surgery, 0
Posterior Vault Distraction Outcomes in Patients With Severe Crouzon Syndrome Resulting from Ser347Cys and Ser354Cys Mutations.
Raposo-Amaral CE et al.
The Journal of Craniofacial Surgery, 0