Associated Papers
Phenotypic heterogeneity in Crouzon syndrome: A case of severe intracranial hypertension from isolated temporal squamosal suture synostosis with a de novo FGFR2 p.Cys342Tyr mutation.
Liu B et al.
Radiology Case Reports, 2026
Human-like malformations in anole lizards: Potential cases of "hopeful monsters" resembling chameleon morphology.
Kaczmarek P et al.
Journal of Anatomy, 2026
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.
Gijsbertsen M et al.
Disease Models & Mechanisms, 2025
Mechanistic Role of PIEZO1 in Crouzon Syndrome: Osteogenic Regulation By FGFR2-Mutated Periosteal Progenitors at the Ossification Interface.
Dong X et al.
The Journal of Craniofacial Surgery, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.
Tiberio F et al.
Molecular Therapy. Nucleic Acids, 2025
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
An early prenatal diagnosis of type III Pfeiffer syndrome: a case description.
Tie HX et al.
Quantitative Imaging in Medicine and Surgery, 2024
Cranial bone microarchitecture in a mouse model for syndromic craniosynostosis.
Ajami S et al.
Journal of Anatomy, 2024
New CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Yue YY et al.
Journal of Molecular Medicine (berlin, Germany), 2024
Radiological Diagnosis of Crouzon Syndrome: A Case Study.
Tonpe S et al.
Cureus, 2024
Construction of a Lentiviral Vector for Fgfr2 Overexpression and its Impact on the Biological Behavior of Cranial Suture Mesenchymal Stem Cells.
Yue Y et al.
The Journal of Craniofacial Surgery, 2024
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Timberlake AT
Plastic and Reconstructive Surgery, 2023
Developmental impairments of craniofacial bone and cartilage in transgenic mice expressing FGF10.
Yoshioka H et al.
Bone Reports, 2023
Identification of Diagnostic Variants in FGFR2 and NPR2 Genes in a Chinese Family Affected by Crouzon Syndrome and Acromesomelic Dysplasia, Type Maroteaux.
Zhu J et al.
Dna and Cell Biology, 2022
FGFR2 Mutation p.Cys342Arg Enhances Mitochondrial Metabolism-Mediated Osteogenesis via FGF/FGFR-AMPK-Erk1/2 Axis in Crouzon Syndrome.
Wang Y et al.
Cells, 2022
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
The Effect of Yes-Associated Protein on the Interaction Between the MEK/Extracellular Signal-Regulated Kinase and Hippo Pathways in Osteoblasts Co-Cultured With Fibroblast Growth Factor Receptor 2-Mutated Dura Cells.
Dong X et al.
The Journal of Craniofacial Surgery, 2022
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Protein tyrosine phosphatases in skeletal development and diseases.
Yang H et al.
Bone Research, 2022
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR et al.
The Laryngoscope, 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
Dental phenotype in Crouzon syndrome: A controlled radiographic study in 22 patients.
Sicard L et al.
Archives of Oral Biology, 2021
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
Tønne E et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic background dependent modifiers of craniosynostosis severity.
Dudakovic A et al.
Journal of Structural Biology, 2020
Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
Morice A et al.
Bone, 2020
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
Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.
Siismets EM et al.
Journal of Developmental Biology, 2020
Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.
Bird AD et al.
Human Molecular Genetics, 2020
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 2020
RUNX2-modifying enzymes: therapeutic targets for bone diseases.
Kim WJ et al.
Experimental & Molecular Medicine, 2020
Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea.
Hines EA et al.
Science China. Life Sciences, 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
Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.
Motch Perrine SM et al.
Disease Models & Mechanisms, 2019
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
Vogiatzi A et al.
Expert Reviews in Molecular Medicine, 2019
Detection of G338R FGFR2 mutation in a Vietnamese patient with Crouzon syndrome.
Luong ALT et al.
Biomedical Reports, 2019
Mouse Models of Syndromic Craniosynostosis.
Lee KKL et al.
Molecular Syndromology, 2019
Overexpression of Fgfr2c causes craniofacial bone hypoplasia and ameliorates craniosynostosis in the Crouzon mouse.
Lee KKL et al.
Disease Models & Mechanisms, 2018
Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects.
Holmes G et al.
Development (cambridge, England), 2018