Associated Papers
Pathways to Facilitate Early Recognition and Diagnosis of Hypochondroplasia.
Irving M et al.
Advances in Therapy, 2026
Clinicopathologic, immunohistochemical and genomic characterization of urothelial carcinoma with myxoid and chordoid features.
Zhao T et al.
Histopathology, 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
Early-onset extensive seborrhoeic keratoses in the spectrum of familial acanthosis nigricans.
Pesqué D et al.
Clinical and Experimental Dermatology, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Acanthosis Nigricans in Hypochondroplasia Due to FGFR3 Mutation.
Junkin JR et al.
Jcem Case Reports, 2025
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.
Adams S et al.
Clinical Chemistry, 2025
AI allows pre-screening of FGFR3 mutational status using routine histology slides of muscle-invasive bladder cancer.
Bannier PA et al.
Nature Communications, 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
Familial isolated acanthosis nigricans as a result of a recurrent FGFR3 truncating mutation.
Pesqué D et al.
Clinical and Experimental Dermatology, 2023
Infiltrating gliomas with FGFR alterations: Histologic features, genetic alterations, and potential clinical implications.
Dono A et al.
Cancer Biomarkers : Section a of Disease Markers, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.
Liu Y et al.
Cancers, 2022
Discovery of an unusually high number of de novo mutations in sperm of older men using duplex sequencing.
Salazar R et al.
Genome Research, 2022
Autosomal dominant familial acanthosis nigricans caused by a C-terminal nonsense mutation of FGFR3.
Tahara U et al.
Journal of Human Genetics, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
FGFR3 overexpression is a useful detection tool for FGFR3 fusions and sequence variations in glioma.
Schittenhelm J et al.
Neuro-oncology Practice, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 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
Coexisting FGFR3 p.K650T mutation in two FGFR3-TACC3 fusion glioma cases.
Ballester LY et al.
Acta Neuropathologica Communications, 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
Acanthosis nigricans in a Chinese girl with FGFR3 K650 T mutation: a case report and literature review.
Fu J et al.
Bmc Medical Genetics, 2019
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
Terasawa S et al.
Congenital Anomalies, 2019
Mosaic mutations in FGFR3 and FGFR2 are associated with naevoid acanthosis nigricans or RAVEN (round and velvety epidermal naevus).
Larsabal M et al.
The British Journal of Dermatology, 2019
Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes.
Maher GJ et al.
Genome Research, 2018
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
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
Effects of glycolic acid peeling on the cutaneous manifestation of generalized acanthosis nigricans caused by FGFR3 mutation: A report of one sporadic and two familial cases.
Ichiyama S et al.
The Journal of Dermatology, 2017
Expression levels of FGFR3 as a prognostic marker for the progression of primary pT1 bladder cancer and its association with mutation status.
Kang HW et al.
Oncology Letters, 2017
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
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.
Cossiez Cacard MA et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 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
Benefits and Challenges with Applying Unique Molecular Identifiers in Next Generation Sequencing to Detect Low Frequency Mutations.
Kou R et al.
Plos One, 2016
Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer.
Ward DG et al.
Plos One, 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
Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.
Park K et al.
Oncotarget, 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
APOBEC family mutational signatures are associated with poor prognosis translocations in multiple myeloma.
Walker BA et al.
Nature Communications, 2015
Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.
Tone AA et al.
Bmc Cancer, 2014