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Journal Abstract Search

170 related items for PubMed ID: 30610483

  • 21. 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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  • 22. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.
    Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ.
    Prenat Diagn; 2013 May; 33(5):416-23. PubMed ID: 23408600
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  • 23. Prenatal Diagnosis of Fetal Aqueductal Stenosis: A Multicenter Prospective Observational Study through the North American Fetal Therapy Network.
    Emery SP, Lopa S, Peterson E, Jelin AC, Treadwell MC, Gebb J, Galan HL, Bergh E, Criebaum A, McLennan A, Lillegard J, Blumenfeld YJ.
    Fetal Diagn Ther; 2024 May; 51(3):216-224. PubMed ID: 38320542
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  • 24. Congenital Aqueductal Stenosis: Findings at Fetal MRI That Accurately Predict a Postnatal Diagnosis.
    Heaphy-Henault KJ, Guimaraes CV, Mehollin-Ray AR, Cassady CI, Zhang W, Desai NK, Paldino MJ.
    AJNR Am J Neuroradiol; 2018 May; 39(5):942-948. PubMed ID: 29519789
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  • 29. FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.
    Yang Y, Li DZ.
    Fetal Diagn Ther; 2009 May; 26(2):90-2. PubMed ID: 19752524
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  • 30. First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
    Delahaye S, Rosenblatt J, Costa JM, Bazin A, Bénifla JL, Jouannic JM.
    Prenat Diagn; 2010 Dec; 30(12-13):1222-3. PubMed ID: 20949643
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  • 31. Thanatophoric dysplasia: role of 3-dimensional sonography.
    Tsai PY, Chang CH, Yu CH, Cheng YC, Chang FM.
    J Clin Ultrasound; 2009 Jan; 37(1):31-4. PubMed ID: 18837426
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  • 32. Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
    Jung M, Park SH.
    Exp Mol Pathol; 2017 Apr; 102(2):290-295. PubMed ID: 28249712
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  • 33. Prenatal sonographic diagnosis of thanatophoric dwarfism.
    Kassanos D, Botsis D, Katassos T, Panayotopoylos N, Zourlas P.
    Int J Gynaecol Obstet; 1991 Apr; 34(4):373-6. PubMed ID: 1674486
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  • 36. Thanatophoric dysplasia type I with syndactyly.
    Brodie SG, Kitoh H, Lipson M, Sifry-Platt M, Wilcox WR.
    Am J Med Genet; 1998 Nov 16; 80(3):260-2. PubMed ID: 9843049
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  • 37. 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 Nov 16; 24(1):71-3. PubMed ID: 18504386
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