Associated Papers
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
Crouzonodermoskeletal syndrome requires individualized surgical management: Scoping review of a rare complex craniofacial syndrome.
Reisert HD et al.
Jpras Open, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.
Ziegler M et al.
Jco Precision Oncology, 2025
Genomic subtypes of non-muscle-invasive bladder cancer: guiding immunotherapy decision-making for patients exposed to aristolochic acid.
Peng Y et al.
Molecular Medicine (cambridge, Mass.), 2025
Predictive Molecular Biomarkers of Bladder Cancer Identified by Next-Generation Sequencing-Preliminary Data.
Myszka A et al.
Journal of Clinical Medicine, 2024
The Genetics of Chiari 1 Malformation.
Yan RE et al.
Journal of Clinical Medicine, 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
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Mutational Landscapes of Normal Skin and Their Potential Implications in the Development of Skin Cancer: A Comprehensive Narrative Review.
Riew TR et al.
Journal of Clinical Medicine, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Speech and Language Development, Hearing, and Feeding in Patients With Genetically Confirmed Crouzon Syndrome With Acanthosis Nigricans: A 36-Year Longitudinal Retrospective Review of Patients at the Oxford Craniofacial Unit.
Kilcoyne S et al.
The Journal of Craniofacial Surgery, 2024
Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
Moura S et al.
Genome Biology and Evolution, 2024
Crouzon syndrome with acanthosis nigricans: a case report and literature review.
Nguyen QD et al.
Dermatology Reports, 2023
Somatic mutations of CADM1 in aldosterone-producing adenomas and gap junction-dependent regulation of aldosterone production.
Wu X et al.
Nature Genetics, 2023
Molecular Divergence upon EGFR-TKI Resistance Could Be Dependent on the Exon Location of the Original EGFR-Sensitizing Mutation.
Serna-Blasco R et al.
Cancers, 2022
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
FGFR3 overactivation in the brain is responsible for memory impairments in Crouzon syndrome mouse model.
Cornille M et al.
The Journal of Experimental Medicine, 2022
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.
Salazar R et al.
Genome Research, 2022
Targeted therapies: Expanding the role of FGFR3 inhibition in urothelial carcinoma.
Zengin ZB et al.
Urologic Oncology, 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
Case Report: Targeted Therapy with Anlotinib for a Rare Case of Spinal Cord Glioblastoma with FGFR3 Mutation.
Liu R et al.
Oncotargets and Therapy, 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
A new promising oncogenic target (p.C382R) for treatment with pemigatinib in patients with cholangiocarcinoma.
Hempel L et al.
Therapeutic Advances in Medical Oncology, 2022
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
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
The effect of age on the acquisition and selection of cancer driver mutations in sun-exposed normal skin.
Hernando B et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2021
Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.
Zhang J et al.
Frontiers in Oncology, 2021
Early mandibular morphological differences in patients with FGFR2 and FGFR3-related syndromic craniosynostoses: A 3D comparative study.
Morice A et al.
Bone, 2020
Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene.
Kariya H et al.
The Journal of Dermatology, 2020
Corpus Callosum Agenesis: An Insight into the Etiology and Spectrum of Symptoms.
Hofman J et al.
Brain Sciences, 2020
Fgfr3 Is a Positive Regulator of Osteoblast Expansion and Differentiation During Zebrafish Skull Vault Development.
Dambroise E et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 2020
Role of the N-Terminal Transmembrane Helix Contacts in the Activation of FGFR3.
Matsuoka D et al.
Journal of Computational Chemistry, 2020
Severe achondroplasia due to two de novo variants in the transmembrane domain of FGFR3 on the same allele: A case report.
Nagata T et al.
Molecular Genetics & Genomic Medicine, 2020
Genomic Analysis Reveals Novel Specific Metastatic Mutations in Chinese Clear Cell Renal Cell Carcinoma.
Meng H et al.
Biomed Research International, 2020