Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.
Jiang M et al.
Frontiers in Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Extensive mutational ctDNA profiles reflect High-grade serous cancer tumors and reveal emerging mutations at recurrence.
Marchi G et al.
Translational Oncology, 2024
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
Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience.
Kucińska-Chahwan A et al.
Genes, 2022
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.
Lv S et al.
Frontiers in Cell and Developmental Biology, 2021
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
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.
Plachy L et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.
Porntaveetus T et al.
American Journal of Medical Genetics. Part A, 2017
Elucidation of a four-site allosteric network in fibroblast growth factor receptor tyrosine kinases.
Chen H et al.
Elife, 2017
Landscape of activating cancer mutations in FGFR kinases and their differential responses to inhibitors in clinical use.
Patani H et al.
Oncotarget, 2016
Novel variants in MLL confer to bladder cancer recurrence identified by whole-exome sequencing.
Wu S et al.
Oncotarget, 2016
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.
Helsten T et al.
Cancer Metastasis Reviews, 2015
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Xue Y et al.
Molecular Genetics & Genomic Medicine, 2014
Structure-functional prediction and analysis of cancer mutation effects in protein kinases.
Dixit A et al.
Computational and Mathematical Methods in Medicine, 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
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
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
[R248C FGFR3 mutation. Effect on cell growth, apoptosis and attachment in HaCaT keratinocytes].
Hafner C et al.
Der Pathologe, 2010
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
Castro-Feijóo L et al.
European Journal of Endocrinology, 2008
Achondroplasia.
Baujat G et al.
Best Practice & Research. Clinical Rheumatology, 2008
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
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
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP et al.
Prenatal Diagnosis, 2001
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