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Journal Abstract Search

273 related items for PubMed ID: 34980134

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  • 4. Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
    Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ.
    Lancet; 2019 Feb 23; 393(10173):758-767. PubMed ID: 30712878
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  • 6. Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases.
    Qin Y, Yao Y, Liu N, Wang B, Liu L, Li H, Gao T, Xu R, Wang X, Zhang F, Song J.
    BMC Med Genomics; 2023 Oct 25; 16(1):262. PubMed ID: 37880672
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  • 7. Prenatal trio-based whole exome sequencing in fetuses with abnormalities of the skeletal system.
    Yang Y, Wang M, Wang H.
    Mol Genet Genomics; 2022 Jul 25; 297(4):1017-1026. PubMed ID: 35583673
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  • 10. Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
    Fu F, Li R, Yu Q, Wang D, Deng Q, Li L, Lei T, Chen G, Nie Z, Yang X, Han J, Pan M, Zhen L, Zhang Y, Jing X, Li F, Li F, Zhang L, Yi C, Li Y, Lu Y, Zhou H, Cheng K, Li J, Xiang L, Zhang J, Tang S, Fang P, Li D, Liao C.
    Genome Med; 2022 Oct 28; 14(1):123. PubMed ID: 36307859
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  • 11. All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
    Faas BHW, Westra D, de Munnik SA, van Rij M, Marcelis C, Joosten S, Krapels I, Vernimmen V, Heijligers M, Willemsen MH, de Leeuw N, Rinne T, Pfundt R, Smeekens SP, Stegmann SPA, Macville M, Sikkel E, Coumans A, Wijnberger L, Derks I, van Lent-Albrechts J, Hofste T, Timmermans R, van den End J, Stevens SJC, Feenstra I.
    Prenat Diagn; 2023 Apr 28; 43(4):527-543. PubMed ID: 36647814
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  • 12. Whole-exome sequencing in the evaluation of fetal congenital anomalies of the kidney and urinary tract detected by ultrasonography.
    Lei TY, Fu F, Li R, Yu QX, Du K, Zhang WW, Deng Q, Li LS, Wang D, Yang X, Zhen L, Li DZ, Liao C.
    Prenat Diagn; 2020 Sep 28; 40(10):1290-1299. PubMed ID: 32436246
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  • 13. [Expert consensus on the application of prenatal exome sequencing for fetal structural anomalies].
    Application Collaboration Group Of Whole Exome Sequencing In Prenatal Diagnosis, Lou G, Hou Q, Yang K, Guo L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 May 10; 39(5):457-463. PubMed ID: 35598257
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  • 14. Fetal central nervous system anomalies: When should we offer exome sequencing?
    Baptiste C, Mellis R, Aggarwal V, Lord J, Eberhardt R, Kilby MD, Maher ER, Wapner R, Giordano J, Chitty L.
    Prenat Diagn; 2022 May 10; 42(6):736-743. PubMed ID: 35411553
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  • 17. Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.
    Jin P, Hong J, Xu Y, Qian Y, Han S, Dong M.
    BMC Pregnancy Childbirth; 2024 Sep 09; 24(1):591. PubMed ID: 39251974
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  • 19. Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients.
    Sun H, Li K, Wang L, Zhao L, Yan C, Kong X, Liu N.
    Eur J Obstet Gynecol Reprod Biol; 2024 Jul 09; 298():146-152. PubMed ID: 38756055
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  • 20. Diagnostic yield of whole exome data in fetuses aborted for conotruncal malformations.
    Shi JW, Cao H, Hong L, Ma J, Cui L, Zhang Y, Song X, Liu J, Yang Y, Lv Q, Zhang L, Wang J, Xie M.
    Prenat Diagn; 2022 Jun 09; 42(7):852-861. PubMed ID: 35420166
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