Associated Papers
Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Faria-Teixeira MC et al.
Pediatric Research, 2024
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2024
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 2022
Adapting SureSelect enrichment protocol to the Ion Torrent S5 platform in molecular diagnostics of craniosynostosis.
Bukowska-Olech E et al.
Scientific Reports, 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
A novel heterozygous mutation in FGFR2 gene causing Pfeiffer syndrome.
Machado RA et al.
American Journal of Medical Genetics. Part A, 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
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Corpus callosum abnormalities: neuroradiological and clinical correlations.
Al-Hashim AH et al.
Developmental Medicine and Child Neurology, 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
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
Study of environmental and genetic factors in children with craniosynostosis: A case-control study.
Barik M et al.
Journal of Pediatric Neurosciences, 2013
Pitfalls in experimental designs for characterizing the transcriptional, methylational and copy number changes of oncogenes and tumor suppressor genes.
Zhang Y et al.
Plos One, 2013
Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome.
Ettinger N et al.
The Journal of Craniofacial Surgery, 2013
The Fgfr2 W290R mouse model of Crouzon syndrome.
Gong SG
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
Targeting mutant fibroblast growth factor receptors in cancer.
Greulich H et al.
Trends in Molecular Medicine, 2011
Glioma Specific Extracellular Missense Mutations in the First Cysteine Rich Region of Epidermal Growth Factor Receptor (EGFR) Initiate Ligand Independent Activation.
Ymer SI et al.
Cancers, 2011
The missense mutation W290R in Fgfr2 causes developmental defects from aberrant IIIb and IIIc signaling.
Mai S et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 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
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
Disulfide-mediated dimerization of L1 Ig domains.
Haspel J et al.
Journal of Neuroscience Research, 2001
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
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
Flanagan N et al.
Journal of Medical Genetics, 1998
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
Short-limb skeletal dysplasias and craniosynostosis: what do they have in common?
Cohen MM
Pediatric Radiology, 1997
Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.
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
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Park WJ et al.
Human Molecular Genetics, 1995
Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.
Barik M et al.
Neurology India, 0
Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
Tiberio F et al.
The Journal of Craniofacial Surgery, 0