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Abbreviation : TDI
Long Form : thanatophoric dysplasia type I
No. Year Title Co-occurring Abbreviation
2019 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. FGFR3
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. ACH, FGFR3, gDNA, NGS
2015 Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. FGFR3, RTKs
2009 Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia. FGFR3
2007 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. ACH, DN-PLCgamma, ER, FGFR3, HCH, PLCgamma, SADDAN, STAT1, STAT1
2007 The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor. FGFR3, TK2
2003 Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia. DHPLC, FGFR3
1998 Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I. ---