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243 related items for PubMed ID: 29458880

  • 1. 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]

  • 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. 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]

  • 4. 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; 21(2):89-95. PubMed ID: 11241532
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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; 24(1):71-3. PubMed ID: 18504386
    [Abstract] [Full Text] [Related]

  • 7. 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 Nov; 29(5):314-22. PubMed ID: 20704477
    [Abstract] [Full Text] [Related]

  • 8. Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.
    Chen SW, Chen CP, Wang LK, Chern SR, Wu PC, Chen YN, Lin CJ, Chen WL, Wang W.
    Taiwan J Obstet Gynecol; 2017 Feb; 56(1):87-92. PubMed ID: 28254233
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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
    [Abstract] [Full Text] [Related]

  • 11. 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; 24(4):420-4. PubMed ID: 18987480
    [Abstract] [Full Text] [Related]

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

  • 13. Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.
    Terasawa S, Kato A, Nishizawa H, Kato T, Yoshizawa H, Noda Y, Miyazaki J, Ito M, Sekiya T, Fujii T, Kurahashi H.
    Congenit Anom (Kyoto); 2019 Jan; 59(1):4-10. PubMed ID: 29542187
    [Abstract] [Full Text] [Related]

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

  • 15. Brain malformation with loss of normal FGFR3 expression in thanatophoric dysplasia type I.
    Itoh K, Pooh R, Kanemura Y, Yamasaki M, Fushiki S.
    Neuropathology; 2013 Dec; 33(6):663-6. PubMed ID: 23551494
    [Abstract] [Full Text] [Related]

  • 16. Rotation of the vermis as a cause of enlarged cisterna magna on prenatal imaging.
    Zalel Y, Gilboa Y, Gabis L, Ben-Sira L, Hoffman C, Wiener Y, Achiron R.
    Ultrasound Obstet Gynecol; 2006 May; 27(5):490-3. PubMed ID: 16619381
    [Abstract] [Full Text] [Related]

  • 17. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis.
    Martínez-Frías ML, Egüés X, Puras A, Hualde J, de Frutos CA, Bermejo E, Nieto MA, Martínez S.
    Am J Med Genet A; 2011 Jan; 155A(1):197-202. PubMed ID: 21204232
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19. Thanatophoric dysplasia: a case report.
    Jagun OE, Olusola-Bello MA, Adekanmbi AF, Jagun OO, Oduwole T.
    Pan Afr Med J; 2020 Nov; 37():220. PubMed ID: 33520059
    [Abstract] [Full Text] [Related]

  • 20. 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]

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