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Journal Abstract Search

161 related items for PubMed ID: 28254233

  • 1. 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.
    Chen SW, Chen CP, Wang LK, Chern SR, Wu PC, Chen YN, Lin CJ, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):87-92. PubMed ID: 28254233
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  • 2. 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.
    Chen CP, Chang TY, Lin MH, Chern SR, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
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  • 4. 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.
    Chen CP, Chang TY, Lin TW, Chern SR, Chen SW, Lai ST, Chuang TY, Wang W.
    Taiwan J Obstet Gynecol; 2018 Feb; 57(1):119-122. PubMed ID: 29458880
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  • 5. 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 type II.
    Chen CP, Huang JP, Huang KS, Chen YY, Wu FT, Pan YT, Chiu CL, Wang W.
    Taiwan J Obstet Gynecol; 2024 May; 63(3):387-390. PubMed ID: 38802203
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  • 6. Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
    Chen CP, Chern SR, Shih JC, Wang W, Yeh LF, Chang TY, Tzen CY.
    Prenat Diagn; 2001 Feb; 21(2):89-95. PubMed ID: 11241532
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  • 8. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
    Chen CP, Chern SR, Chang TY, Lin CJ, Wang W, Tzen CY.
    Prenat Diagn; 2002 Aug; 22(8):736-7. PubMed ID: 12210587
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  • 10. Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
    Lindy AS, Basehore MJ, Munisha M, Williams AL, Friez MJ, Writzl K, Willems P, Dougan ST.
    Am J Med Genet A; 2016 Jun; 170(6):1573-9. PubMed ID: 27028100
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  • 11. Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.
    Tonni G, Azzoni D, Ventura A, Ferrari B, Felice CD, Baldi M.
    Fetal Pediatr Pathol; 2010 Jun; 29(5):314-22. PubMed ID: 20704477
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  • 15. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
    Chen CP, Chern SR, Wang W, Wang TY.
    Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
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  • 16. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y, Li DZ.
    Fetal Diagn Ther; 2009 Mar; 26(2):90-2. PubMed ID: 19752524
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  • 18. A THANATOPHORIC DYSPLASIA TYPE I CASE WITH A FGFR3 P.R248C MUTATION AND SURVIVAL BEYOND THE NEONATAL PERIOD.
    Sahin S, Ograg H, Aslan EA, Akcan AB, Turkmen MK, Moosa S, Elcioglu NH.
    Genet Couns; 2016 Mar; 27(4):513-517. PubMed ID: 30226972
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