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Journal Abstract Search

218 related items for PubMed ID: 25800480

  • 1. A case of thanatophoric dysplasia type 2: a novel mutation.
    Gülaşı S, Atıcı A, Çelik Y.
    J Clin Res Pediatr Endocrinol; 2015 Mar; 7(1):73-6. PubMed ID: 25800480
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. 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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  • 4. Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.
    Yang Y, Liu YN, Li DZ.
    Fetal Pediatr Pathol; 2012 Jun; 31(3):128-33. PubMed ID: 22414243
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  • 5. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
    Prontera P, Sensi A, Pilu G, Baldi M, Baffico M, Bonasoni R, Calzolari E.
    Genet Couns; 2006 Jun; 17(4):407-12. PubMed ID: 17375526
    [Abstract] [Full Text] [Related]

  • 6. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y, Li DZ.
    Fetal Diagn Ther; 2009 Jun; 26(2):90-2. PubMed ID: 19752524
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  • 7. Thanatophoric dysplasia type I.
    Chang TK, Wang Y, Liu AM, Tung JC.
    Acta Paediatr Taiwan; 2001 Jun; 42(1):39-41. PubMed ID: 11270184
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  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.
    Zhen L, Pan M, Han J, Yang X, Liao C, Li DZ.
    J Obstet Gynaecol; 2015 Sep; 35(7):685-7. PubMed ID: 25671245
    [Abstract] [Full Text] [Related]

  • 11. 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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  • 16. Chylous Ascites in an Infant with Thanatophoric Dysplasia Type I with FGFR3 Mutation Surviving Five Months.
    Soo-Kyeong J, Lee N, Bae MH, Han YM, Hee Park K, Byun SY.
    Fetal Pediatr Pathol; 2018 Oct 07; 37(5):363-371. PubMed ID: 30252581
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  • 17. 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 07; 170(6):1573-9. PubMed ID: 27028100
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  • 18. An R248C mutation of FGFR3 leading to thanatophoric dysplasia type I.
    Tsai FJ, Tsai LP, Lin SP, Tsai CH, Peng CT, Wang TR, Lee CC, Wu JY.
    Acta Paediatr Taiwan; 1999 Jun 07; 40(4):262-4. PubMed ID: 10910625
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  • 19. 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.
    Jiang G, Chen X, Dai D, Cao L, Qian L.
    Exp Mol Pathol; 2019 Dec 07; 111():104297. PubMed ID: 31476288
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