Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia.
Demuynck B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
FGFR3 alterations in bladder cancer: Sensitivity and resistance to targeted therapies.
Noeraparast M et al.
Cancer Communications (london, England), 2024
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures.
Fang D et al.
Frontiers in Genetics, 2024
Clinical and Genomic Landscape of FGFR3-Altered Urothelial Carcinoma and Treatment Outcomes with Erdafitinib: A Real-World Experience.
Guercio BJ et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
Elucidating the potential effects of point mutations on FGFR3 inhibitor resistance via combined molecular dynamics simulation and community network analysis.
Liu B et al.
Journal of Computer-aided Molecular Design, 2023
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Clinical and Radiologic Evaluation of an Individual with Hypochondroplasia and a Novel FGFR3 Mutation.
Ramos Mejía R et al.
Journal of Pediatric Genetics, 2020
The evolving therapeutic landscape of genetic skeletal disorders.
Sabir AH et al.
Orphanet Journal of Rare Diseases, 2019
Ensemble-Based Replica Exchange Alchemical Free Energy Methods: The Effect of Protein Mutations on Inhibitor Binding.
Bhati AP et al.
Journal of Chemical Theory and Computation, 2019
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
Terasawa S et al.
Congenital Anomalies, 2019
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing: A case report and brief literature review.
Yao G et al.
Medicine, 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
Structural Alterations in Human Fibroblast Growth Factor Receptors in Carcinogenesis.
Mikhaylenko DS et al.
Biochemistry. Biokhimiia, 2018
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I et al.
Human Genome Variation, 2018
Spectrum of genomic alterations in FGFR3: current appraisal of the potential role of FGFR3 in advanced urothelial carcinoma.
Sethakorn N et al.
Bju International, 2016
Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use.
Patani H et al.
Oncotarget, 2016
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
A novel variant of FGFR3 causes proportionate short stature.
Kant SG et al.
European Journal of Endocrinology, 2015
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2014
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?
Mustafa M et al.
Case Reports in Endocrinology, 2014
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2013
Fibroblast growth factor receptors, developmental corruption and malignant disease.
Kelleher FC et al.
Carcinogenesis, 2013
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.
Wang H et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2013
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C>A, p.N540K).
Park KE et al.
Clinical and Experimental Reproductive Medicine, 2013
Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.
Korkmaz HA et al.
Journal of Clinical Research in Pediatric Endocrinology, 2012
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.
De Sanctis V et al.
Georgian Medical News, 2012
FGFR3 related skeletal dysplasias diagnosed prenatally by ultrasonography and molecular analysis: presentation of 17 cases.
Hatzaki A et al.
American Journal of Medical Genetics. Part A, 2011
Targeting mutant fibroblast growth factor receptors in cancer.
Greulich H et al.
Trends in Molecular Medicine, 2011
5q12.1 deletion: delineation of a phenotype including mental retardation and ocular defects.
Jaillard S et al.
American Journal of Medical Genetics. Part A, 2011
Thanatophoric dysplasia caused by double missense FGFR3 mutations.
Pannier S et al.
American Journal of Medical Genetics. Part A, 2009
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
Leroy JG et al.
American Journal of Medical Genetics. Part A, 2007
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S et al.
European Journal of Human Genetics : Ejhg, 2006
Prenatal diagnosis of hypochondroplasia: report of two cases.
Karadimas C et al.
American Journal of Medical Genetics. Part A, 2006
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
Rump P et al.
American Journal of Medical Genetics. Part A, 2006
Prevalence of Mutations in the FGFR3 Gene in Individuals with Idiopathic Short Stature.
Mamada M et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
[Mutations in the Fibroblast Growth Factor Receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia].
Mancilla EE et al.
Revista Medica De Chile, 2003
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
Thauvin-Robinet C et al.
American Journal of Medical Genetics. Part A, 2003
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
Bellus GA et al.
American Journal of Human Genetics, 2000