Associated Papers
Digenic impairments of haploinsufficient genes in patients with craniosynostosis.
Yu JW et al.
Jci Insight, 2025
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
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
Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Yang L et al.
Journal of 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
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
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
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
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
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
Chokdeemboon C et al.
The Journal of Craniofacial Surgery, 2013
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
Park J et al.
Journal of Cellular Biochemistry, 2012
Molecular prenatal diagnosis: the impact of modern technologies.
Raymond FL et al.
Prenatal Diagnosis, 2010
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.
Katoh M
The Journal of Investigative Dermatology, 2009
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
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
Cellular signaling by fibroblast growth factor receptors.
Eswarakumar VP et al.
Cytokine & Growth Factor Reviews, 2005
FGFR2 mutations among Thai children with Crouzon and Apert syndromes.
Shotelersuk V et al.
The Journal of Craniofacial Surgery, 2003
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
A case of Pfeiffer syndrome type 1 with an A344P mutation in the FGFR2 gene.
Shotelersuk V et al.
The Southeast Asian Journal of Tropical Medicine and Public Health, 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
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z et al.
Endocrine Reviews, 2000
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
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Meyers GA et al.
Nature Genetics, 1995
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
The genetic background of craniosynostosis syndromes.
Heutink P et al.
European Journal of Human Genetics : Ejhg, 1995
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Jabs EW 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