De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene. [PDF]
, 1995 Joseph H. Hersh +6 more
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Roles of FGF Receptors in Mammalian Development and Congenital Diseases [PDF]
, 2003 International audienceFour fibroblast growth factor receptors (FGFR1-4) constitute a family of transmembrane tyrosine kinases that serve as high affinity receptors for at least 22 FGF ligands. Gene targeting in mice has yielded valuable insights into the
Coumoul, Xavier, Deng, Chu-Xia
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Second‐trimester molecular diagnosis of a heterozygous 742C → T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings [PDF]
, 2001 C.‐P. Chen +3 more
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The Thanatophoric Dysplasia Type II Mutation Hampers Complete Maturation of Fibroblast Growth Factor Receptor 3 (FGFR3), Which Activates Signal Transducer and Activator of Transcription 1 (STAT1) from the Endoplasmic Reticulum [PDF]
, 2003 Patricia Lievens, Elio Liboi
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Thanatophoric dysplasia: Role of 3‐dimensional sonography [PDF]
, 2008 Pei‐Yin Tsai +4 more
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P05.01: Prenatal diagnosis of characteristic CNS features in thanatophoric dysplasia (TD) [PDF]
, 2009 Harm‐Gerd K. Blaas +2 more
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Genetically-determined familial recurrent thanatophoric dysplasia [PDF]
, 1970 Summary Thanatophoric dysplasia was first described in 1967 by Maroteaux. It is one of the most common lethal neonatal dwarfisms. Estimated incidence of thanatophoric dysplasia is 0.2-0.5 per 10000 births.
Dubiel, Mariusz +6 more
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Cell-free fetal DNA: the new tool in fetal medicine. [PDF]
, 2014 Chitty, LS, Everett, TR
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Fast detection of thanatophoric dysplasia type I p.R248C mutation hot spots and rapid prenatal diagnosis of three TD type I high-risk fetuses [PDF]
, 2017 目的针对致死性侏儒症I型（thanatophoric dysplasia typeⅠ,TD-Ⅰ）FGFR3基因的突变热点＂p.R248C＂,建立快速特异的酶切鉴定法（restriction endonuelease testing,RE）和扩增受阻突变系统（amplification refractory mutation system,ARMS）/RE法,并应用于后续3例疑似TD-I高危胎儿的快速产前诊断,以及时防止患胎出生,同时为今后的胚胎植入前遗传学诊断（preimplantation ...
姜煜 +7 more
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