Associated Papers
Discovery of Novel RASGRF2 Fusions as a Therapeutic Target in Lung Adenocarcinoma of Never or Light Smokers.
Terashima Y et al.
Cancer Science, 2025
The Genetics of Chiari 1 Malformation.
Yan RE et al.
Journal of Clinical Medicine, 2024
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Crouzon syndrome in a fraternal twin: A case report and review of the literature.
Li XJ et al.
World Journal of Clinical Cases, 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
Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.
Shi H et al.
Medicine, 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
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
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
Yu D et al.
Medicine, 2017
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Y et al.
Molecular Medicine Reports, 2017
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
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
Ohishi A et al.
American Journal of Medical Genetics. Part A, 2017
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
FGFR2 mutation in a Chinese family with unusual Crouzon syndrome.
Li ZL et al.
International Journal of Ophthalmology, 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
Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
Ke R et al.
The Journal of Craniofacial Surgery, 2015
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
Fibroblast growth factor receptors, developmental corruption and malignant disease.
Kelleher FC et al.
Carcinogenesis, 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
[FGFR2 gene mutation in a family with Crouzon syndrome and a sporadic Crouzon syndrome patient].
Guo L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
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
Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
Stenirri S et al.
Clinical Chemistry, 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
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
A novel fibroblast growth factor receptor 2 mutation in Crouzon syndrome associated with Chiari type I malformation and syringomyelia.
Fujisawa H et al.
Journal of Neurosurgery, 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
Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Kress W et al.
Cytogenetics and Cell Genetics, 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
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
Nagase T et al.
The Journal of Craniofacial Surgery, 1998
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM
Pediatric Radiology, 1997
[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
Ishigaki M et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Ma HW et al.
Human Genetics, 1995
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Park WJ et al.
American Journal of Human 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
Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
Tiberio F et al.
The Journal of Craniofacial Surgery, 0