Associated Papers
Prenatal and Postmortem Characterization of FGFR2-Related Fetal Craniosynostosis: Emphasizing Rare and Atypical Anomalies.
Karaman V et al.
Prenatal Diagnosis, 2026
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
FGFR2 residence in primary cilia is necessary for epithelial cell signaling.
Nita A et al.
The Journal of Cell Biology, 2025
The primary cilium as a gatekeeper of FGFR2 function.
Kaushik R et al.
The Journal of Cell Biology, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations.
Ogawa JT et al.
American Journal of Medical Genetics. Part A, 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
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
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
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
A Case of Crouzon's Syndrome with a True Human Tail.
Ando N et al.
Journal of Plastic and Reconstructive Surgery, 2023
FGF signaling in cranial suture development and related diseases.
Zhao X et al.
Frontiers in Cell and Developmental Biology, 2023
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
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Complex Airway Management in Patients with Tracheal Cartilaginous Sleeves.
Noble AR et al.
The Laryngoscope, 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
Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
Katsuragi SY et al.
The American Journal of Case Reports, 2021
Rapidly Progressive Multisutural Craniosynostosis in a Patient With Jackson-Weiss Syndrome and a De Novo FGFR2 Pathogenic Variant.
Celie KB et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Genetic Causes of Craniosynostosis: An Update.
Goos JAC et al.
Molecular Syndromology, 2019
Genetic Analysis of Syndromic and Nonsyndromic Patients With Craniosynostosis Identifies Novel Mutations in the TWIST1 and EFNB1 Genes.
Apostolopoulou D et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2018
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2018
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
Saliba S et al.
Prenatal Diagnosis, 2018
Inhibitor repurposing reveals ALK, LTK, FGFR, RET and TRK kinases as the targets of AZD1480.
Gudernova I et al.
Oncotarget, 2017
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Y et al.
Molecular Medicine Reports, 2017
Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
Giancotti A et al.
The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians, 2017
Pfeiffer syndrome with FGFR2 C342R mutation presenting extreme proptosis, craniosynostosis, hearing loss, ventriculomegaly, broad great toes and thumbs, maxillary hypoplasia, and laryngomalacia.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2017
Genetic Homozygosity and Phenotypic Variability in Craniosynostotic Rabbits.
Gilbert JR et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 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
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
Pathogenic Cysteine Removal Mutations in FGFR Extracellular Domains Stabilize Receptor Dimers and Perturb the TM Dimer Structure.
Sarabipour S et al.
Journal of Molecular Biology, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B et al.
American Journal of Medical Genetics. Part A, 2015
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
The C342R mutation in FGFR2 causes Crouzon syndrome with elbow deformity.
Ke R et al.
The Journal of Craniofacial Surgery, 2015
Pfeiffer syndrome: clinical and genetic findings in five Brazilian families.
Júnior HM et al.
Medicina Oral, Patologia Oral Y Cirugia Bucal, 2015
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG et al.
Pediatric Neurology, 2014
Upper extremity anomalies in Pfeiffer syndrome and mutational correlations.
Cerrato FE et al.
Plastic and Reconstructive Surgery, 2014
Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.
Heuzé Y et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
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