Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
KBG Syndrome: A Case Report and Longitudinal Assessment of Long-Acting Recombinant Human Growth Hormone Therapy.
Nan H et al.
Clinical Case Reports, 2026
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
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations.
Jama MA et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Comparison between next-generation sequencing and multiplex polymerase chain reaction assays for nonsmall-cell lung cancer molecular diagnosis.
Murakami S et al.
Cancer Medicine, 2024
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Liu XD et al.
Heliyon, 2024
Mining cancer genomes for change-of-metabolic-function mutations.
Tu KJ et al.
Communications Biology, 2023
Biological and clinical implications of FGFR aberrations in paediatric and young adult cancers.
Brown LM et al.
Oncogene, 2023
Measurement of FGFR3 signaling at the cell membrane via total internal reflection fluorescence microscopy to compare the activation of FGFR3 mutants.
Hartl I et al.
The Journal of Biological Chemistry, 2023
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
Molecular characterization of lung squamous cell carcinoma tumors reveals therapeutically relevant alterations.
Joshi A et al.
Oncotarget, 2021
Targeted Therapy With PI3K and FGFR Inhibitors on Human Papillomavirus Positive and Negative Tonsillar and Base of Tongue Cancer Lines With and Without Corresponding Mutations.
Holzhauser S et al.
Frontiers in Oncology, 2021
Crouzon syndrome with acanthosis nigricans and prominent diffuse hyperpigmentation associated with gain-of-function A391E mutation in FGFR3 gene.
Kariya H et al.
The Journal of Dermatology, 2020
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Analysis of FGFR3 and HRAS genes in patients with bladder cancer.
Homami A et al.
Medical Journal of the Islamic Republic of Iran, 2020
Mild osteochondrodysplasia with acanthosis nigricans in a short-statured Taiwanese family due to the p.Lys650Gln mutation in FGFR3.
Lin WD et al.
Pediatrics and Neonatology, 2019
Acanthosis nigricans, hypochondroplasia, and FGFR3 mutations: Findings with five new patients, and a review of the literature.
Muguet Guenot L et al.
Pediatric Dermatology, 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
Computational analysis reveals histotype-dependent molecular profile and actionable mutation effects across cancers.
Heim D et al.
Genome Medicine, 2018
Familial acanthosis nigricans with the FGFR3 mutation: Differences of pigmentation between male and female patients.
Yasuda M et al.
The Journal of Dermatology, 2018
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
Overexpression of FGFR3 in HPV-positive Tonsillar and Base of Tongue Cancer Is Correlated to Outcome.
Bersani C et al.
Anticancer Research, 2018
Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.
Kim YS et al.
Bmc Urology, 2018
Familial acanthosis nigricans with p.K650T FGFR3 mutation.
Fukuchi K et al.
The Journal of Dermatology, 2018
Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.
Lee JY et al.
Translational Oncology, 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
Pan-urologic cancer genomic subtypes that transcend tissue of origin.
Chen F et al.
Nature Communications, 2017
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2017
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3.
Hirai H et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2017
The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.
Zhang R et al.
Oncotarget, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
Determination of somatic oncogenic mutations linked to target-based therapies using MassARRAY technology.
Ibarrola-Villava M et al.
Oncotarget, 2016
Effective treatment by glycolic acid peeling for cutaneous manifestation of familial generalized acanthosis nigricans caused by FGFR3 mutation.
Ichiyama S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Overexpression of wildtype EGFR is tumorigenic and denotes a therapeutic target in non-small cell lung cancer.
Xu N et al.
Oncotarget, 2016
Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.
Lee JY et al.
Oncotarget, 2015