• A case of thanatophoric dysplasia type 2: a novel mutation
• A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia
• A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
• A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia
• Abnormal expression of cell adhesion molecule L1 in migration disorders: a developmental immunohistochemical study
• Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations
• Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy
• Activated fibroblast growth factor receptor 3 is an oncogene that contributes to tumor progression in multiple myeloma
• Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia
• Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
• Analysis of skeletal dysplasias in the Utah population
• Antenatal diagnosis of lethal skeletal dysplasias
• C-type natriuretic peptide analog treatment of craniosynostosis in a Crouzon syndrome mouse model
• C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria
• Clinical and molecular diagnosis of the skeletal dysplasias associated with mutations in the gene encoding Fibroblast Growth Factor Receptor 3 (FGFR3) in Portugal
• Cloverleaf skull and bilateral facial clefts
• Cloverleaf skulls: etiologic heterogeneity and pathogenetic variability
• Common arterial trunk with thanatophoric dysplasia: a unique case
• Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism
• Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis
• Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias
• Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I
• Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras
• Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation
• Development of individuals with thanatophoric dysplasia surviving beyond infancy
• Diagnosis of chromosomal abnormalities in a patient with thanatophoric dysplasia (TD) type I: The first report describing an important association between cytogenetic findings and TD
• Disruption of a Sox9-β-catenin circuit by mutant Fgfr3 in thanatophoric dysplasia type II
• Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel)
• Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization
• Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
• Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis
• Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
• Fetal skeletal dysplasias in a tertiary care center: radiology, pathology, and molecular analysis of 112 cases
• Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases
• FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1
• FGFR3 induces degradation of BMP type I receptor to regulate skeletal development
• FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway
• FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met
• Fibroblast growth factor receptor 3 (FGFR3) - analyses of the S249C mutation and protein expression in primary cervical carcinomas
• Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
• Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia
• Genetic examination for fetuses with increased nuchal translucency by exome sequencing
• Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation
• Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia
• HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia
• Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1
• Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
• Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia
• K644E/M FGFR3 mutants activate Erk1/2 from the endoplasmic reticulum through FRS2 alpha and PLC gamma-independent pathways
• Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
• Meclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasia
• Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
• Mutant activated FGFR3 impairs endochondral bone growth by preventing SOX9 downregulation in differentiating chondrocytes
• Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation
• Mutational activation of FGFR3: no involvement in the development of renal cell carcinoma
• Mutations causing achondroplasia and thanatophoric dysplasia alter bFGF-induced calcium signals in human diploid fibroblasts
• Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach
• Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA
• Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration
• Nordihydroguaiaretic acid inhibits an activated fibroblast growth factor receptor 3 mutant and blocks downstream signaling in multiple myeloma cells
• Overexpression of Spry1 in chondrocytes causes attenuated FGFR ubiquitination and sustained ERK activation resulting in chondrodysplasia
• Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations
• Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasi
• Post-mortem cytogenomic investigations in patients with congenital malformations
• Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia
• Prenatal diagnosis of chondrodysplasia punctata tibia-metacarpal type using multidetector CT and three-dimensional reconstruction
• Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia
• Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2
• Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography
• Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
• Prenatal sonographic diagnosis of skeletal dysplasias
• Proposal of patient-specific growth plate cartilage xenograft model for FGFR3 chondrodysplasia
• PTHrP rescues ATDC5 cells from apoptosis induced by FGF receptor 3 mutation
• Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II
• Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management
• Reduced binding of FGF1 to mutant fibroblast growth factor receptor 3
• Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period
• Skeletal dysplasias: 38 prenatal cases
• Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
• Some chondrodysplasias with short limbs: molecular perspectives
• Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination
• Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia
• Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
• Structural mimicry of a-loop tyrosine phosphorylation by a pathogenic FGF receptor 3 mutation
• Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type
• Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCgamma-activated STAT1
• Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <em>FGFR3-</em>Related Skeletal Dysplasias
• Thanatophoric dysplasia type 2 with encephalocele during the second trimester
• Thanatophoric dysplasia type I: a rare case report at fetal autopsy
• Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis
• Thanatophoric dysplasia: A brief neuropathological review
• Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
• Thanatophoric dysplasia: report of 2 cases with neuropathological study
• Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis
• The cytoplasmic tyrosine kinase Pyk2 as a novel effector of fibroblast growth factor receptor 3 activation
• The incidence of thanatophoric dysplasia mutations in FGFR3 gene is higher in low-grade or superficial bladder carcinomas
• The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor
• Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia
• Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports