• A case of thanatophoric dysplasia type 2: a novel mutation
• A case of thanatophoric dysplasia type I with an R248C mutation in the FGFR3 gene
• A Case of Thanatophoric Dysplasia Type I with Fetal Hydrops in the First Trimester
• A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis
• A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD
• Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations
• Analysis of skeletal dysplasias in the Utah population
• Anesthetic management of an infant with thanatophoric dysplasia for suboccipital decompression
• Atypical achondroplasia due to somatic mosaicism for the common thanatophoric dysplasia mutation R248C
• Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I
• C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia
• Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer
• Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months
• Clinical features and molecular genetic analysis of thanatophoric dysplasia type I in a neonate with a de novo c.2419 T > C (p. Ter807Arg) (X807R) mutation in FGFR3
• Collagen X Marker Levels are Decreased in Individuals with Achondroplasia
• Comparative X-ray morphometry of prenatal osteogenesis imperfecta type 2 and thanatophoric dysplasia: a contribution to prenatal differential diagnosis
• Constitutively activated FGFR3 mutants signal through PLCgamma-dependent and -independent pathways for hematopoietic transformation
• Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia
• 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
• Disease models: Statins give bone growth a boost
• Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization
• Endoplasmic reticulum stress-mediated apoptosis contributes to a skeletal dysplasia resembling platyspondylic lethal skeletal dysplasia, Torrance type, in a novel Col2a1 mutant mouse line
• 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
• 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 as a therapeutic target of the small molecule inhibitor PKC412 in hematopoietic malignancies
• FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1
• FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
• 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
• Genetic examination for fetuses with increased nuchal translucency by exome sequencing
• Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation
• Genotyping of the C742T mutation of the FGFR3 gene causing type 1 thanatophoric dysplasia by high-resolution melting analysis
• Identification and in silico characterization of p.G380R substitution in FGFR3, associated with achondroplasia in a non-consanguineous Pakistani family
• 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
• Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer
• Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1
• Intermittent PTH (1-34) injection rescues the retarded skeletal development and postnatal lethality of mice mimicking human achondroplasia and thanatophoric dysplasia
• Laparoscopic herniorrhaphy for inguinal hernia with thanatophoric dysplasia: A case report
• Lethal and life-limiting skeletal dysplasias: Selected prenatal issues
• Lethal osteo-chondro-dysplasia: feto-pathological study of 32 cases
• Lethal osteogenesis imperfecta. Prenatal diagnosis
• Lethal short limb dwarfism: thanatophoric dysplasia- type I
• Malformation of the fetal brain in thanatophoric dysplasia: US and MRI findings
• Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis
• Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi
• Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders
• 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
• 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
• Orthopaedic Manifestations of Thanatophoric Dwarfism: A Case Report
• Overexpression of Spry1 in chondrocytes causes attenuated FGFR ubiquitination and sustained ERK activation resulting in chondrodysplasia
• Pathophysiological analyses of leptomeningeal heterotopia using gyrencephalic mammals
• Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3
• Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3
• 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 dysplasia ty
• Platyspondylic lethal skeletal dysplasia San Diego type (thanatophoric dysplasia type 1) associated with trisomy 21 presenting with nuchal translucency: a case report
• Post-mortem cytogenomic investigations in patients with congenital malformations
• Prenatal diagnosis and molecular analysis of type 1 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 Skeletal Dysplasia and Review of the Literature
• Prenatal diagnosis of skeletal dysplasias: contribution of three-dimensional computed tomography
• Prenatal sonographic diagnosis of skeletal dysplasias
• Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation
• Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports
• 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
• Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA
• Simultaneous detection of fetal aneuploidy, de novo FGFR3 mutations and paternally derived β-thalassemia by a novel method of noninvasive prenatal testing
• Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
• Skeletal Dysplasia: A Case Report
• Skeletal dysplasias: 38 prenatal cases
• Sonographic assessment of normal and abnormal patterns of fetal cerebral lamination
• Spontaneous Rupture of Unscarred Uterus in a Term Primagravida with Lethal Skeletal Dysplasia Fetus (Thanatophoric dysplasia). A Case Report and Review of the Literature
• Statin treatment rescues FGFR3 skeletal dysplasia phenotypes
• Stippling: a first trimester marker for thanatophoric dysplasia type I
• 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 1 with cloverleaf skull in a dichorionic twin
• Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis
• Thanatophoric dysplasia type 1 with temporal lobe dysplasia: Report of a case along with differential diagnosis
• Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology
• 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, type I
• Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis
• Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient
• Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis
• The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation
• The paradox of FGFR3 signaling in skeletal dysplasia: why chondrocytes growth arrest while other cells over proliferate
• The respiratory elastance ratio in thanatophoric dysplasia: A case report
• Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia
• Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function
• Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports