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139 related items for PubMed ID: 38802203

  • 1. 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]

  • 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. Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.
    Nazzaro A, Della Monica M, Lonardo F, Di Blasi A, Baffico M, Baldi M, Nazzaro G, De Placido G, Scarano G.
    Prenat Diagn; 2004 Nov; 24(11):918-22. PubMed ID: 15565658
    [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. 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]

  • 7. Prenatal diagnosis of apert syndrome with cloverleaf skull deformity using ultrasound, fetal magnetic resonance imaging and genetic analysis.
    Weber B, Schwabegger AH, Vodopiutz J, Janecke AR, Forstner R, Steiner H.
    Fetal Diagn Ther; 2010 Feb; 27(1):51-6. PubMed ID: 19940464
    [Abstract] [Full Text] [Related]

  • 8. Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.
    Chen CP, Su YN, Chang TY, Chern SR, Chen CY, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Jun; 52(2):273-7. PubMed ID: 23915865
    [Abstract] [Full Text] [Related]

  • 9. Prenatal diagnosis of Pfeiffer syndrome type II.
    Blaumeiser B, Loquet P, Wuyts W, Nöthen MM.
    Prenat Diagn; 2004 Aug; 24(8):644-6. PubMed ID: 15305355
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Pfeiffer syndrome: literature review of prenatal sonographic findings and genetic diagnosis.
    Giancotti A, D'Ambrosio V, Marchionni E, Squarcella A, Aliberti C, La Torre R, Manganaro L, Pizzuti A, PECRAM Study Group*.
    J Matern Fetal Neonatal Med; 2017 Sep; 30(18):2225-2231. PubMed ID: 27762162
    [Abstract] [Full Text] [Related]

  • 12. A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia.
    Baynam G, Smith N, Goldblatt J.
    Am J Med Genet A; 2008 Sep 01; 146A(17):2301-3. PubMed ID: 18671283
    [No Abstract] [Full Text] [Related]

  • 13. Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages.
    Katsuragi SY, Hirose E, Arai Y, Otsuki Y, Ohki S, Kobayashi H.
    Am J Case Rep; 2021 Aug 09; 22():e932450. PubMed ID: 34366428
    [Abstract] [Full Text] [Related]

  • 14. Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.
    Itoh S, Nojima M, Yoshida K.
    Fetal Diagn Ther; 2006 Aug 09; 21(2):168-71. PubMed ID: 16490997
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Prenatal diagnosis of Pfeiffer syndrome and role of three-dimensional ultrasound: case report and review of literature.
    Vimercati A, Olivieri C, Dellino M, Gentile M, Tinelli R, Cicinelli E.
    J Matern Fetal Neonatal Med; 2022 Dec 01; 35(25):7840-7843. PubMed ID: 34182859
    [Abstract] [Full Text] [Related]

  • 17. Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.
    Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.
    Taiwan J Obstet Gynecol; 2013 Dec 01; 52(4):580-5. PubMed ID: 24411048
    [Abstract] [Full Text] [Related]

  • 18. Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
    Wilcox WR, Tavormina PL, Krakow D, Kitoh H, Lachman RS, Wasmuth JJ, Thompson LM, Rimoin DL.
    Am J Med Genet; 1998 Jul 07; 78(3):274-81. PubMed ID: 9677066
    [Abstract] [Full Text] [Related]

  • 19. 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 Jul 07; 24(4):420-4. PubMed ID: 18987480
    [Abstract] [Full Text] [Related]

  • 20. [Prenatal diagnosis of thanatophoric dysplasia at 21st week of pregnancy].
    Camera G, Dodero D, Camandona F, Camera A.
    Pathologica; 1993 Jul 07; 85(1096):215-9. PubMed ID: 8361784
    [Abstract] [Full Text] [Related]

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