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124 related items for PubMed ID: 9481651

  • 1. 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]

  • 2. Thanatophoric dysplasia type I: new radiologic, morphologic, and histologic aspects toward the exact definition of the disorder.
    Weber M, Johannissón T, Thomsen M, Rehder H, Niethard FU.
    J Pediatr Orthop B; 1998 Jan; 7(1):1-9. PubMed ID: 9481650
    [Abstract] [Full Text] [Related]

  • 3. The role of mesenchyme-like tissue in the pathogenesis of thanatophoric dysplasia.
    Ornoy A, Adomian GE, Eteson DJ, Burgeson RE, Rimoin DL.
    Am J Med Genet; 1985 Aug; 21(4):613-30. PubMed ID: 4025393
    [Abstract] [Full Text] [Related]

  • 4. 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 Aug; 3():167-79. PubMed ID: 3130852
    [Abstract] [Full Text] [Related]

  • 5. [Thanatophoric dysplasia: report of 2 cases with neuropathological study].
    Noronha L, Prevedello LM, Maggio EM, Serapiao MJ, Torres LF.
    Arq Neuropsiquiatr; 2002 Mar; 60(1):133-7. PubMed ID: 11965423
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

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

  • 8. 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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  • 11. [Cloverleaf skull deformity with thanatophoric dysplasia in the 24th week of pregnancy].
    Habeck JO, Müller D.
    Anat Anz; 1986 Jan 01; 161(1):27-34. PubMed ID: 3085547
    [Abstract] [Full Text] [Related]

  • 12. Thanatophoric dysplasia of the straight-bone type (type 2).
    Norman AM, Rimmer S, Landy S, Donnai D.
    Clin Dysmorphol; 1992 Apr 01; 1(2):115-20. PubMed ID: 1345514
    [Abstract] [Full Text] [Related]

  • 13. Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.
    Elejalde BR, de Elejalde MM.
    Am J Med Genet; 1985 Dec 01; 22(4):669-83. PubMed ID: 4073120
    [Abstract] [Full Text] [Related]

  • 14. 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 Dec 01; 15(6):412-4. PubMed ID: 4058967
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
    Salinas-Torres VM.
    Genet Couns; 2015 Jul 07; 26(1):61-5. PubMed ID: 26043509
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 9(3):321-8. PubMed ID: 7773297
    [Abstract] [Full Text] [Related]

  • 18. 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 07; 52(3):420-5. PubMed ID: 24075385
    [Abstract] [Full Text] [Related]

  • 19. Thanatophoric dysplasia. Correlation among bone X-ray morphometry, histopathology, and gene analysis.
    Pazzaglia UE, Donzelli CM, Izzi C, Baldi M, Di Gaetano G, Bondioni M.
    Skeletal Radiol; 2014 Sep 07; 43(9):1205-15. PubMed ID: 24859745
    [Abstract] [Full Text] [Related]

  • 20. 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 07; 57(1):119-122. PubMed ID: 29458880
    [Abstract] [Full Text] [Related]

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