Associated Papers
Lymphoid enhancer-binding factor 1 (LEF1) immunostaining as a surrogate for β-catenin (CTNNB1) mutations.
Hewer E et al.
Journal of Clinical Pathology, 2025
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
Alleviating misclassified germline variants in underrepresented populations: A strategy using popmax.
Lee NY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024
Utility of Select Gene Mutation Detection in Tumors by the Idylla Rapid Multiplex PCR Platform in Comparison to Next-Generation Sequencing.
Nkosi D et al.
Genes, 2022
Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.
Aguilar M et al.
The Journal of Pathology, 2021
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
Nonsyndromic craniosynostosis: novel coding variants.
Sewda A et al.
Pediatric Research, 2019
Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Y et al.
Prenatal Diagnosis, 2018
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family.
González-Del Angel A et al.
American Journal of Medical Genetics. Part A, 2018
Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.
Ye X et al.
Plastic and Reconstructive Surgery, 2016
Molecular profiles of high-grade and low-grade pseudomyxoma peritonei.
Noguchi R et al.
Cancer Medicine, 2015
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Chitty LS et al.
Prenatal Diagnosis, 2015
Amplicon sequencing of colorectal cancer: variant calling in frozen and formalin-fixed samples.
Betge J et al.
Plos One, 2015
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E et al.
American Journal of Medical Genetics. Part A, 2011
Integrated genetic and epigenetic analysis of bladder cancer reveals an additive diagnostic value of FGFR3 mutations and hypermethylation events.
Serizawa RR et al.
International Journal of Cancer, 2011
A Korean family with the Muenke syndrome.
Yu JE et al.
Journal of Korean Medical Science, 2010
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
[On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].
Preising MN et al.
Klinische Monatsblatter Fur Augenheilkunde, 2003
Heterozygous P250L mutation of fibroblast growth factor receptor 3 in a case of isolated craniosynostosis.
Schindler S et al.
Journal of Medical Genetics, 2002
Novel mutation detection of fibroblast growth factor receptor 1 (FGFR1) gene, FGFR2IIIa, FGFR2IIIb, FGFR2IIIc, FGFR3, FGFR4 gene for craniosynostosis: A prospective study in Asian Indian patient.
Barik M et al.
Journal of Pediatric Neurosciences, 0