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Journal Abstract Search

195 related items for PubMed ID: 11241532

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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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  • 5. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
    Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ.
    Prenat Diagn; 2013 May; 33(5):416-23. PubMed ID: 23408600
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  • 6. Prenatal diagnosis of thanatophoric dysplasia by mutational analysis of the fibroblast growth factor receptor 3 gene and a proposed correction of previously published PCR results.
    Sawai H, Komori S, Ida A, Henmi T, Bessho T, Koyama K.
    Prenat Diagn; 1999 Jan; 19(1):21-4. PubMed ID: 10073901
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  • 7. 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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  • 8. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
    Rousseau F, el Ghouzzi V, Delezoide AL, Legeai-Mallet L, Le Merrer M, Munnich A, Bonaventure J.
    Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844
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  • 9. 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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  • 10. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
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  • 11. Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
    Brodie SG, Kitoh H, Lachman RS, Nolasco LM, Mekikian PB, Wilcox WR.
    Am J Med Genet; 1999 Jun 11; 84(5):476-80. PubMed ID: 10360402
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  • 12. Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
    De Biasio P, Prefumo F, Baffico M, Baldi M, Priolo M, Lerone M, Tomà P, Venturini PL.
    Prenat Diagn; 2000 Oct 11; 20(10):835-7. PubMed ID: 11038465
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  • 14. Thanatophoric dysplasia type I.
    Chang TK, Wang Y, Liu AM, Tung JC.
    Acta Paediatr Taiwan; 2001 Oct 11; 42(1):39-41. PubMed ID: 11270184
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  • 15. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
    Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ.
    Nat Genet; 1995 Mar 11; 9(3):321-8. PubMed ID: 7773297
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  • 18. 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 11; 155A(1):197-202. PubMed ID: 21204232
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  • 20. 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 11; 22(8):736-7. PubMed ID: 12210587
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