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Journal Abstract Search

182 related items for PubMed ID: 36352425

  • 1. Genetic analysis of 55 cases with fetal skeletal dysplasia.
    Bai Y, Sun Y, Liu N, Wang L, Jiao Z, Hou Y, Duan H, Li Q, Zhu X, Meng J, Kong X.
    Orphanet J Rare Dis; 2022 Nov 09; 17(1):410. PubMed ID: 36352425
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  • 3. 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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  • 4. Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.
    Han J, Yang YD, He Y, Liu WJ, Zhen L, Pan M, Yang X, Zhang VW, Liao C, Li DZ.
    Prenat Diagn; 2020 Apr 23; 40(5):577-584. PubMed ID: 31994750
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  • 6. Molecular diagnosis for 55 fetuses with skeletal dysplasias by whole-exome sequencing: A retrospective cohort study.
    Zhang L, Pan L, Teng Y, Liang D, Li Z, Wu L.
    Clin Genet; 2021 Aug 23; 100(2):219-226. PubMed ID: 33942288
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  • 7. Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
    Zhu X, Gao Z, Wang Y, Huang W, Li Q, Jiao Z, Liu N, Kong X.
    Ultrasound Obstet Gynecol; 2022 Dec 23; 60(6):780-792. PubMed ID: 35726512
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  • 9. Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
    Zhang X, Ren Y, Song R, Wang L, Xu H, Xie X, Zhou H, Sun P, Zhang M, Zhao Q, You Y, Gao Z, Meng Y, Lu Y.
    Prenat Diagn; 2021 Oct 23; 41(11):1401-1413. PubMed ID: 34091931
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  • 14. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
    Fu F, Li R, Li Y, Nie ZQ, Lei T, Wang D, Yang X, Han J, Pan M, Zhen L, Ou Y, Li J, Li FT, Jing X, Li D, Liao C.
    Ultrasound Obstet Gynecol; 2018 Apr 23; 51(4):493-502. PubMed ID: 28976722
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  • 16. Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
    Scocchia A, Kangas-Kontio T, Irving M, Hero M, Saarinen I, Pelttari L, Gall K, Valo S, Huusko JM, Tallila J, Sistonen J, Koskenvuo J, Alastalo TP.
    Orphanet J Rare Dis; 2021 Oct 09; 16(1):412. PubMed ID: 34627339
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  • 18. Comprehensive evaluation of genetic variants using chromosomal microarray analysis and exome sequencing in fetuses with congenital heart defect.
    Qiao F, Wang Y, Zhang C, Zhou R, Wu Y, Wang C, Meng L, Mao P, Cheng Q, Luo C, Hu P, Xu Z.
    Ultrasound Obstet Gynecol; 2021 Sep 09; 58(3):377-387. PubMed ID: 33142350
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  • 19. Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
    Al-Hamed MH, Kurdi W, Khan R, Tulbah M, AlNemer M, AlSahan N, AlMugbel M, Rafiullah R, Assoum M, Monies D, Shah Z, Rahbeeni Z, Derar N, Hakami F, Almutairi G, AlOtaibi A, Ali W, AlShammasi A, AlMubarak W, AlDawoud S, AlAmri S, Saeed B, Bukhari H, Ali M, Akili R, Alquayt L, Hagos S, Elbardisy H, Akilan A, Almuhana N, AlKhalifah A, Abouelhoda M, Ramzan K, Sayer JA, Imtiaz F.
    Hum Genet; 2022 Jan 09; 141(1):101-126. PubMed ID: 34853893
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