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170 related items for PubMed ID: 32752906

  • 1. Molecular testing strategies in the evaluation of fetal skeletal dysplasia.
    Jelin AC, Blakemore K, Trebes S, Sagaser K, Forster KR, Russo M, Hoover-Fong J.
    J Matern Fetal Neonatal Med; 2022 Jul; 35(14):2788-2794. PubMed ID: 32752906
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  • 6. Prenatal diagnosis of fetal skeletal dysplasias in a tertiary Hospital in Spain.
    Illescas T, Mansilla E, Herrero B, Rodríguez R, López F, Aza-Carmona M, Regojo RM, Santos-Simarro F, Heath KE, Bartha JL, Antolín E.
    Eur J Obstet Gynecol Reprod Biol; 2020 Jul; 250():209-215. PubMed ID: 32470698
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  • 8. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel.
    Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L.
    Prenat Diagn; 2018 Aug; 38(9):692-699. PubMed ID: 29907962
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  • 9. Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
    Wang L, Li R, Zhai J, Zhang B, Wu J, Pang L, Liu Y.
    Medicine (Baltimore); 2022 Oct 28; 101(43):e31321. PubMed ID: 36316869
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  • 10. Prenatal diagnosis of the skeletal dysplasias.
    Sharony R, Browne C, Lachman RS, Rimoin DL.
    Am J Obstet Gynecol; 1993 Sep 28; 169(3):668-75. PubMed ID: 8372878
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  • 11. Early prenatal diagnosis of a recurrent case of short-rib thoracic dysplasia 3 due to compound heterozygosity for variations in the DYNC2H1 gene: an "ultrasound first" approach.
    Fontana P, Agolini E, Cocciadiferro D, Mazzarelli LL, Di Meglio A, Novelli A, Scarano G, Lombardi C, Ciavarella M, Lonardo F.
    J Matern Fetal Neonatal Med; 2023 Dec 28; 36(1):2205985. PubMed ID: 37100787
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  • 14. Prenatal Diagnosis of Skeletal Dysplasias: What Can CT Do for You?
    Snyder EJ, Moldenhauer JS, Victoria T.
    Fetal Diagn Ther; 2023 Dec 28; 50(2):61-69. PubMed ID: 36948169
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  • 17. Fetal skeletal dysplasias: sonographic indices associated with adverse outcomes.
    Nelson DB, Dashe JS, McIntire DD, Twickler DM.
    J Ultrasound Med; 2014 Jun 28; 33(6):1085-90. PubMed ID: 24866616
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  • 20. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review.
    Tse KY, Surya IU, Irwinda R, Leung KY, Ting YH, Cao Y, Choy KW.
    Genes (Basel); 2023 May 30; 14(6):. PubMed ID: 37372383
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