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Journal Abstract Search

248 related items for PubMed ID: 24517215

  • 1. 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]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.
    Tonni G, Azzoni D, Ventura A, Ferrari B, Felice CD, Baldi M.
    Fetal Pediatr Pathol; 2010 Jan 01; 29(5):314-22. PubMed ID: 20704477
    [Abstract] [Full Text] [Related]

  • 7. 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 Jan 01; 35(7):685-7. PubMed ID: 25671245
    [Abstract] [Full Text] [Related]

  • 8. [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]

  • 9. Perinatal pathology casebook. Thanatophoric dysplasia with cloverleaf skull.
    Jasnosz KM, MacPherson TA.
    J Perinatol; 1993 Jan 01; 13(2):162-4. PubMed ID: 8515313
    [No Abstract] [Full Text] [Related]

  • 10. Thanatophoric dysplasia type 1 with cloverleaf skull in a dichorionic twin.
    Salinas-Torres VM.
    Genet Couns; 2015 Jan 01; 26(1):61-5. PubMed ID: 26043509
    [Abstract] [Full Text] [Related]

  • 11. A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.
    Wong HS, Kidd A, Zuccollo J, Tuohy J, Strand L, Tait J, Pringle KC.
    Fetal Diagn Ther; 2008 Jan 01; 24(1):71-3. PubMed ID: 18504386
    [Abstract] [Full Text] [Related]

  • 12. Thanatophoric dysplasia in monozygotic twins discordant for cloverleaf skull: prenatal diagnosis, clinical and pathological findings.
    Machin GA.
    Am J Med Genet; 1992 Dec 01; 44(6):842-3. PubMed ID: 1481860
    [No Abstract] [Full Text] [Related]

  • 13. [Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].
    Camera G, Dodero D, Camandona F, Camera A.
    Pathologica; 1993 Dec 01; 85(1096):215-9. PubMed ID: 8361784
    [Abstract] [Full Text] [Related]

  • 14. Nuchal translucency and ductus venosus blood flow as early sonographic markers of thanatophoric dysplasia. A case report.
    Ferreira A, Matias A, Brandão O, Montenegro N.
    Fetal Diagn Ther; 2004 Dec 01; 19(3):241-5. PubMed ID: 15067234
    [Abstract] [Full Text] [Related]

  • 15. Thanatophoric dysplasia type I presenting with increased nuchal translucency in the first trimester.
    De Biasio P, Ichim IB, Scarso E, Baldi M, Barban A, Venturini PL.
    Prenat Diagn; 2005 May 01; 25(5):426-8. PubMed ID: 15906417
    [No Abstract] [Full Text] [Related]

  • 16. Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2.
    Kalache KD, Lehmann K, Chaoui R, Kivelitz DE, Mundlos S, Bollmann R.
    Prenat Diagn; 2002 May 01; 22(5):404-7. PubMed ID: 12001196
    [Abstract] [Full Text] [Related]

  • 17. Sonographic diagnosis of cloverleaf skull and thanatophoric dysplasia in the second trimester.
    Weiner CP, Williamson RA, Bonsib SM.
    J Clin Ultrasound; 1986 May 01; 14(6):463-5. PubMed ID: 3091649
    [No Abstract] [Full Text] [Related]

  • 18. 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 01; 21(2):89-95. PubMed ID: 11241532
    [Abstract] [Full Text] [Related]

  • 19. Bifid choroid plexus: always a normal fetal brain structure variant?
    Centini G, Imperatore A, Morelli M, Rosignoli L, Passamonti U, Caprioli F, Lituania M.
    Congenit Anom (Kyoto); 2013 Jun 01; 53(2):73-7. PubMed ID: 23751040
    [Abstract] [Full Text] [Related]

  • 20. Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.
    Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H.
    Fetal Diagn Ther; 2008 Jun 01; 24(4):420-4. PubMed ID: 18987480
    [Abstract] [Full Text] [Related]

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