Associated Papers
Tracheal cartilaginous sleeve prevalence in syndromic craniosynostosis: A single institution study.
Park RK et al.
International Journal of Pediatric Otorhinolaryngology, 2026
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 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 sequencing identifies 33 novel mutations in 130 ClinGen curated hearing loss genes among 253 pediatric patients: A retrospective case study.
Zhou Z et al.
Biomedical Reports, 2025
Glycosylation of FGF/FGFR: An underrated sweet code regulating cellular signaling programs.
Gędaj A et al.
Cytokine & Growth Factor Reviews, 2024
Loss-of-function mutations of the TIE1 receptor tyrosine kinase cause late-onset primary lymphedema.
Brouillard P et al.
The Journal of Clinical Investigation, 2024
Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Faria-Teixeira MC et al.
Pediatric Research, 2024
N-glycosylation acts as a switch for FGFR1 trafficking between the plasma membrane and nuclear envelope.
Gregorczyk P et al.
Cell Communication and Signaling : Ccs, 2023
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
Effect of Growth Hormone Therapy on a 4-Year-Old Girl with Pfeiffer Syndrome and Short Stature: A Case Report.
Jang MJ et al.
Children (basel, Switzerland), 2022
Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.
Wei X et al.
Molecular Genetics & Genomic Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
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
Prenatal exome sequencing in fetuses with congenital heart defects.
Li R et al.
Clinical Genetics, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 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
Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease.
Tuzon CT et al.
Current Osteoporosis Reports, 2019
Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway.
Vogiatzi A et al.
Expert Reviews in Molecular Medicine, 2019
FGFR2-activating mutations disrupt cell polarity to potentiate migration and invasion in endometrial cancer cell models.
Stehbens SJ et al.
Journal of Cell Science, 2018
Structural Alterations in Human Fibroblast Growth Factor Receptors in Carcinogenesis.
Mikhaylenko DS et al.
Biochemistry. Biokhimiia, 2018
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
Xu Y et al.
Gene, 2018
Novel chromosomal microduplications associated with dolichocephaly craniosynostosis: A case report.
Yu D et al.
Medicine, 2017
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
Lin Y et al.
Molecular Medicine Reports, 2017
Analysis of the Fgfr2C342Y mouse model shows condensation defects due to misregulation of Sox9 expression in prechondrocytic mesenchyme.
Peskett E et al.
Biology Open, 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
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.
Egan JB et al.
Jco Precision Oncology, 2017
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
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
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes MB et al.
American Journal of Medical Genetics. Part A, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
Molecular mechanisms of midfacial developmental defects.
Suzuki A et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2016
Clinical and genetic characteristics of craniosynostosis in Hungary.
Bessenyei B et al.
American Journal of Medical Genetics. Part A, 2015
A Genetic-Pathophysiological Framework for Craniosynostosis.
Twigg SR et al.
American Journal of Human Genetics, 2015
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 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
Severe meningeal calcification in a Crouzon patient carrying a mutant C342W FGFR2.
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
[Analysis of FGFR2 gene mutations in two Chinese families with Crouzon syndrome].
Huang Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2014
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur BG et al.
Pediatric Neurology, 2014