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Journal Abstract Search

133 related items for PubMed ID: 1345514

  • 1. Thanatophoric dysplasia of the straight-bone type (type 2).
    Norman AM, Rimmer S, Landy S, Donnai D.
    Clin Dysmorphol; 1992 Apr; 1(2):115-20. PubMed ID: 1345514
    [Abstract] [Full Text] [Related]

  • 2. Thanatophoric dysplasia and cloverleaf skull.
    Langer LO, Yang SS, Hall JG, Sommer A, Kottamasu SR, Golabi M, Krassikoff N.
    Am J Med Genet Suppl; 1987 Apr; 3():167-79. PubMed ID: 3130852
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. Thanatophoric dysplasia type II: new entity?
    Weber M, Johannissón R, Carstens C, Pauschert R, Niethard FU.
    J Pediatr Orthop B; 1998 Jan; 7(1):10-22. PubMed ID: 9481651
    [Abstract] [Full Text] [Related]

  • 6. Cloverleaf skull with generalised bone dysplasia. Report of a case with short review of the literature.
    Kozlowski K, Warren PS, Fisher CC.
    Pediatr Radiol; 1985 Jan; 15(6):412-4. PubMed ID: 4058967
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Prevalence of lethal osteochondrodysplasias in Denmark.
    Andersen PE.
    Am J Med Genet; 1989 Apr 01; 32(4):484-9. PubMed ID: 2789000
    [Abstract] [Full Text] [Related]

  • 9. [Description of a case of thanatophoric dysplasia with cloverleaf skull].
    Ronconi GF, Pesenti P, Mercurella A, Sassolino S.
    Pediatr Med Chir; 1986 Apr 01; 8(3):423-5. PubMed ID: 3786207
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. Radiological and histological variants of thanatophoric dysplasia are associated with common mutations in FGFR-3.
    Nerlich AG, Freisinger P, Bonaventure J.
    Am J Med Genet; 1996 May 03; 63(1):155-60. PubMed ID: 8723102
    [Abstract] [Full Text] [Related]

  • 12. Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.
    Elejalde BR, de Elejalde MM.
    Am J Med Genet; 1985 Dec 03; 22(4):669-83. PubMed ID: 4073120
    [Abstract] [Full Text] [Related]

  • 13. 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 03; 54(4):228-32. PubMed ID: 24517215
    [Abstract] [Full Text] [Related]

  • 14. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr 03; 102(2):290-295. PubMed ID: 28249712
    [Abstract] [Full Text] [Related]

  • 15. [Prenatal diagnosis of thanatophoric dysplasia at the 20th week of pregnancy using ultrasonography].
    Todros T, Sciarrone A, Voglino G, Botta G, Camera G.
    Pathologica; 1995 Dec 03; 87(6):723-5. PubMed ID: 8927442
    [Abstract] [Full Text] [Related]

  • 16. 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 03; 9(3):321-8. PubMed ID: 7773297
    [Abstract] [Full Text] [Related]

  • 17. Perinatal pathology casebook. Thanatophoric dysplasia with cloverleaf skull.
    Jasnosz KM, MacPherson TA.
    J Perinatol; 1993 Mar 03; 13(2):162-4. PubMed ID: 8515313
    [No Abstract] [Full Text] [Related]

  • 18. Thanatophoric dysplasia: roentgenographic findings and detection of a de novo mutation of FGFR3 gene in a Thai patient.
    Wattanasirichaigoon D, Charoenpipop D.
    J Med Assoc Thai; 2006 Aug 03; 89(8):1287-92. PubMed ID: 17048442
    [Abstract] [Full Text] [Related]

  • 19. [Thanatophoric dwarfism].
    Frahm R.
    Radiologe; 1986 Dec 03; 26(12):598-601. PubMed ID: 3823421
    [Abstract] [Full Text] [Related]

  • 20. Diagnosis and counseling of thanatophoric dysplasia with four-dimensional ultrasound.
    Vasilj O, Mišković B.
    J Matern Fetal Neonatal Med; 2012 Dec 03; 25(12):2786-8. PubMed ID: 22734441
    [Abstract] [Full Text] [Related]

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