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Journal Abstract Search

177 related items for PubMed ID: 25054955

  • 1. [Prenatal diagnosis of skeletal dysplasia in first trimester of pregnancy X-linked dominant chondrodysplasia punctata].
    Polák P, Baxová A, Křepelová A, Balák M.
    Ceska Gynekol; 2014 Jun; 79(3):193-7. PubMed ID: 25054955
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  • 2. Greenberg dysplasia (HEM) and lethal X linked dominant Conradi-Hünermann chondrodysplasia punctata (CDPX2): presentation of two cases with overlapping phenotype.
    Offiah AC, Mansour S, Jeffrey I, Nash R, Whittock N, Pyper R, Bewley S, Clayton PT, Hall CM.
    J Med Genet; 2003 Dec; 40(12):e129. PubMed ID: 14684697
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  • 4. X-linked dominant chondrodysplasia punctata with severe phenotype in a female fetus: A case report.
    Liu Y, Wang L, Xu B, Yang Y, Shan D, Wu Q.
    Medicine (Baltimore); 2019 Jan; 98(1):e13850. PubMed ID: 30608402
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  • 5. Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.
    Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS.
    Fetal Diagn Ther; 2010 Jan; 28(3):186-90. PubMed ID: 20523025
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  • 6. Prenatal findings in chondrodysplasia punctata, tibia-metacarpal type.
    Argo KM, Toriello HV, Jelsema RD, Zuidema LJ.
    Ultrasound Obstet Gynecol; 1996 Nov; 8(5):350-4. PubMed ID: 8978012
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  • 8. Prenatal diagnosis of cervical spinal cord compression in chondrodysplasia punctata brachytelephalangic type: A case report and literature review.
    Ochiai D, Takamura K, Nishimura G, Ikeda T, Yakubo K, Fukuiya T.
    Congenit Anom (Kyoto); 2013 Dec; 53(4):160-2. PubMed ID: 24712475
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  • 13. Prenatal testing for a novel EBP missense mutation causing X-linked dominant chondrodysplasia punctata.
    Tysoe C, Law CJ, Caswell R, Clayton P, Ellard S.
    Prenat Diagn; 2008 May; 28(5):384-8. PubMed ID: 18395876
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  • 14. A novel EBP c.224T>A mutation supports the existence of a male-specific disorder independent of CDPX2.
    Barboza-Cerda MC, Wong LJ, Martínez-de-Villarreal LE, Zhang VW, Déctor MA.
    Am J Med Genet A; 2014 Jul; 164A(7):1642-7. PubMed ID: 24700572
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  • 15. A novel frameshift deletion variant of ARSL associated with X-linked recessive chondrodysplasia punctata 1: a case report and literature review of prenatal, confirmed cases.
    Zhou L, Peng Y, Chen J, Xi H, Wang S, Kang G, Tang W, Xie W.
    BMC Med Genomics; 2024 Oct 18; 17(1):253. PubMed ID: 39425194
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  • 16. Severe X-linked chondrodysplasia punctata in nine new female fetuses.
    Lefebvre M, Dufernez F, Bruel AL, Gonzales M, Aral B, Saint-Onge J, Gigot N, Desir J, Daelemans C, Jossic F, Schmitt S, Mangione R, Pelluard F, Vincent-Delorme C, Labaune JM, Bigi N, D'Olne D, Delezoide AL, Toutain A, Blesson S, Cormier-Daire V, Thevenon J, El Chehadeh S, Masurel-Paulet A, Joyé N, Vibert-Guigue C, Rigonnot L, Rousseau T, Vabres P, Hervé P, Lamazière A, Rivière JB, Faivre L, Laurent N, Thauvin-Robinet C.
    Prenat Diagn; 2015 Jul 18; 35(7):675-84. PubMed ID: 25754886
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  • 19. Prenatal diagnosis of Conradi's syndrome. Case report.
    Tuck SM, Slack J, Buckland G.
    Prenat Diagn; 1990 Mar 18; 10(3):195-8. PubMed ID: 2188250
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