Associated Papers
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
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
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia.
Chen J et al.
Gene, 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
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
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
The A391E mutation enhances FGFR3 activation in the absence of ligand.
Chen F et al.
Biochimica Et Biophysica Acta, 2011
The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.
Peng WC et al.
Protein Science : a Publication of the Protein Society, 2009
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
Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.
Li E et al.
Biochemistry, 2006
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
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