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Journal Abstract Search

299 related items for PubMed ID: 24075385

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. 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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  • 5. Dysmorphic choroid plexuses and hydrocephalus associated with increased nuchal translucency: early ultrasound markers of de novo thanatophoric dysplasia type II with cloverleaf skull (Kleeblattschaedel).
    Tonni G, Palmisano M, Ginocchi V, Ventura A, Baldi M, Baffico AM.
    Congenit Anom (Kyoto); 2014 Nov; 54(4):228-32. PubMed ID: 24517215
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  • 6. 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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  • 7. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.
    Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S.
    Am J Med Genet A; 2011 Jan; 155A(1):197-202. PubMed ID: 21204232
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  • 13. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
    Corsello G, Maresi E, Rossi C, Giuffrè L, Cittadini E.
    Am J Med Genet; 1992 Jan 01; 42(1):122-6. PubMed ID: 1308351
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  • 17. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
    Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL.
    Am J Med Genet; 1998 Jul 07; 78(3):274-81. PubMed ID: 9677066
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  • 18. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
    Terasawa S, Kato A, Nishizawa H, Kato T, Yoshizawa H, Noda Y, Miyazaki J, Ito M, Sekiya T, Fujii T, Kurahashi H.
    Congenit Anom (Kyoto); 2019 Jan 07; 59(1):4-10. PubMed ID: 29542187
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