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Journal Abstract Search

175 related items for PubMed ID: 11851976

  • 1. Diagnosis of skeletal dysplasia by multidisciplinary assessment: a report of two cases of thanatophoric dysplasia.
    Kölble N, Sobetzko D, Ersch J, Stallmach T, Eich G, Huch R, Huch A, Superti-Furga A, Wisser J.
    Ultrasound Obstet Gynecol; 2002 Jan; 19(1):92-8. PubMed ID: 11851976
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  • 4. Prenatal diagnosis of thanatophoric dysplasia in the second trimester: ultrasonography and other diagnostic modalities.
    Sahinoglu Z, Uludogan M, Gurbuz A, Karateke A.
    Arch Gynecol Obstet; 2003 Nov; 269(1):57-61. PubMed ID: 14605823
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  • 7. Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
    Chen CP, Chern SR, Wang W, Wang TY.
    Ultrasound Obstet Gynecol; 2001 Mar; 17(3):272-3. PubMed ID: 11309183
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  • 8. Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.
    Chen CP, Chern SR, Chang TY, Lin CJ, Wang W, Tzen CY.
    Prenat Diagn; 2002 Aug; 22(8):736-7. PubMed ID: 12210587
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  • 9. [Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].
    Camera G, Dodero D, Camandona F, Camera A.
    Pathologica; 1993 Aug; 85(1096):215-9. PubMed ID: 8361784
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  • 11. 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 Aug; 35(7):685-7. PubMed ID: 25671245
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  • 13. 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 Aug; 24(4):420-4. PubMed ID: 18987480
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  • 14. Third-trimester 3D ultrasound evaluation of thanatophoric dysplasia type I.
    Chen CP, Chang TY, Chern SR, Wang W.
    Taiwan J Obstet Gynecol; 2007 Sep; 46(3):281-3. PubMed ID: 17962111
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  • 15. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y, Li DZ.
    Fetal Diagn Ther; 2009 Sep; 26(2):90-2. PubMed ID: 19752524
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  • 18. Thanatophoric dysplasia type 1 with tectal plate dysplasia and aqueductal stenosis.
    Tan AP, Priego G.
    Childs Nerv Syst; 2019 Jun; 35(6):1059-1061. PubMed ID: 30610483
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  • 19. Thanatophoric dysplasia: a case report and review of literature.
    Indu PS, Poothiode U, Augustine J, Pillai SB.
    Indian J Pathol Microbiol; 2007 Jul; 50(3):589-92. PubMed ID: 17883148
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