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Journal Abstract Search

166 related items for PubMed ID: 8515313

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

  • 2. 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]

  • 3. 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]

  • 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. [Description of a case of thanatophoric dysplasia with cloverleaf skull].
    Ronconi GF, Pesenti P, Mercurella A, Sassolino S.
    Pediatr Med Chir; 1986 May; 8(3):423-5. PubMed ID: 3786207
    [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 May; 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. [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. 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 01; 57(1):119-122. PubMed ID: 29458880
    [Abstract] [Full Text] [Related]

  • 10. Cloverleaf skull and bone dysplasias (report of four cases).
    Kozlowski K, Jequier S, Sillence D, Moir DH.
    Australas Radiol; 1987 Aug 01; 31(3):309-14. PubMed ID: 3435350
    [No Abstract] [Full Text] [Related]

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

  • 12. 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]

  • 13. 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 01; 3():167-79. PubMed ID: 3130852
    [Abstract] [Full Text] [Related]

  • 14. 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 Apr 01; 24(4):420-4. PubMed ID: 18987480
    [Abstract] [Full Text] [Related]

  • 15. [Thanatophoric dwarfism].
    Domke N, Lückert G, Löffler F.
    Zentralbl Gynakol; 1985 Apr 01; 107(11):705-9. PubMed ID: 3895783
    [Abstract] [Full Text] [Related]

  • 16. Antenatal sonographic findings of thanatophoric dysplasia with cloverleaf skull.
    Chervenak FA, Blakemore KJ, Isaacson G, Mayden K, Hobbins JC.
    Am J Obstet Gynecol; 1983 Aug 15; 146(8):984-5. PubMed ID: 6881234
    [No Abstract] [Full Text] [Related]

  • 17. [New case of thanatophoric dwarfism associated with cloverleaf skull].
    Camera G, Verri B.
    Pathologica; 1974 Aug 15; 66(953-954):105-12. PubMed ID: 4417023
    [No Abstract] [Full Text] [Related]

  • 18. Ultrasound assessment of biometric trends in a case of thanatophoric dysplasia.
    Fieni S, Gramellini D, Vadora E.
    Gynecol Obstet Invest; 2002 Aug 15; 54(2):122-4. PubMed ID: 12566756
    [Abstract] [Full Text] [Related]

  • 19. Thanatophoric dwarfism with the cloverleaf skull: a specific antenatal sonographic diagnosis.
    Mahony BS, Filly RA, Callen PW, Golbus MS.
    J Ultrasound Med; 1985 Mar 15; 4(3):151-4. PubMed ID: 3884837
    [No Abstract] [Full Text] [Related]

  • 20. Thanatophoric dysplasia of the straight-bone type (type 2).
    Norman AM, Rimmer S, Landy S, Donnai D.
    Clin Dysmorphol; 1992 Apr 15; 1(2):115-20. PubMed ID: 1345514
    [Abstract] [Full Text] [Related]

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