Associated Papers
N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
Hashimoto U et al.
Biochimica Et Biophysica Acta. General Subjects, 2024
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.
Ansari-Pour N et al.
Blood, 2023
36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2
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
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia.
Takahashi I et al.
Human Genome Variation, 2018
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Lai Z et al.
Nucleic Acids Research, 2016
27060149 (PubMed )
Supplement: gkw227_Supplementary_Data.zip › nar-03544-met-k-2015-File003.xls › Suppl._Table_3
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
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients.
Saito T et al.
American Journal of Medical Genetics. Part A, 2012
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al.
Friez MJ et al.
European Journal of Human Genetics : Ejhg, 2008
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
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
Select a paper to view details