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Journal Abstract Search

265 related items for PubMed ID: 30629328

  • 1. Whole exome sequencing for prenatal diagnosis in cases with fetal anomalies: Criteria to improve diagnostic yield.
    Yadava SM, Ashkinadze E.
    J Genet Couns; 2019 Apr; 28(2):251-255. PubMed ID: 30629328
    [Abstract] [Full Text] [Related]

  • 2. The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies.
    Diderich KEM, Romijn K, Joosten M, Govaerts LCP, Polak M, Bruggenwirth HT, Wilke M, van Slegtenhorst MA, van Bever Y, Brooks AS, Mancini GMS, van de Laar IMBH, Kromosoeto JNR, Knapen MFCM, Go ATJI, Van Opstal D, Hoefsloot LH, Galjaard RH, Srebniak MI.
    Acta Obstet Gynecol Scand; 2021 Jun; 100(6):1106-1115. PubMed ID: 33249554
    [Abstract] [Full Text] [Related]

  • 3. Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
    Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER, Prenatal Assessment of Genomes and Exomes Consortium.
    Lancet; 2019 Feb 23; 393(10173):747-757. PubMed ID: 30712880
    [Abstract] [Full Text] [Related]

  • 4. Implementation of exome sequencing in fetal diagnostics-Data and experiences from a tertiary center in Denmark.
    Becher N, Andreasen L, Sandager P, Lou S, Petersen OB, Christensen R, Vogel I.
    Acta Obstet Gynecol Scand; 2020 Jun 23; 99(6):783-790. PubMed ID: 32304219
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 7. Promises, pitfalls and practicalities of prenatal whole exome sequencing.
    Best S, Wou K, Vora N, Van der Veyver IB, Wapner R, Chitty LS.
    Prenat Diagn; 2018 Jan 25; 38(1):10-19. PubMed ID: 28654730
    [Abstract] [Full Text] [Related]

  • 8. Importance of complete phenotyping in prenatal whole exome sequencing.
    Aarabi M, Sniezek O, Jiang H, Saller DN, Bellissimo D, Yatsenko SA, Rajkovic A.
    Hum Genet; 2018 Feb 25; 137(2):175-181. PubMed ID: 29392406
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. Parental perceptions of prenatal whole exome sequencing (PPPWES) study.
    Wou K, Weitz T, McCormack C, Wynn J, Spiegel E, Giordano J, Wapner RJ, Chung WK.
    Prenat Diagn; 2018 Oct 25; 38(11):801-811. PubMed ID: 30035818
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies.
    Lei L, Zhou L, Xiong JJ.
    Eur J Med Genet; 2021 Sep 09; 64(9):104288. PubMed ID: 34246755
    [Abstract] [Full Text] [Related]

  • 13. Prenatal genetic diagnosis of fetuses with dextrocardia using whole exome sequencing in a tertiary center.
    Xue H, Yu A, Chen L, Guo Q, Zhang L, Lin N, Chen X, Xu L, Huang H.
    Sci Rep; 2024 Jul 15; 14(1):16266. PubMed ID: 39009665
    [Abstract] [Full Text] [Related]

  • 14. Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES).
    Leung GKC, Mak CCY, Fung JLF, Wong WHS, Tsang MHY, Yu MHC, Pei SLC, Yeung KS, Mok GTK, Lee CP, Hui APW, Tang MHY, Chan KYK, Liu APY, Yang W, Sham PC, Kan ASY, Chung BHY.
    BMC Med Genomics; 2018 Oct 25; 11(1):93. PubMed ID: 30359267
    [Abstract] [Full Text] [Related]

  • 15. 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 25; 60(6):780-792. PubMed ID: 35726512
    [Abstract] [Full Text] [Related]

  • 16. [Analysis of families with fetal congenital abnormalities but negative prenatal diagnosis by whole exome sequencing].
    Fu F, Li LS, Du K, Li R, Yu QX, Wang D, Lei TY, Deng Q, Nie ZQ, Zhang WW, Yang X, Han J, Zhen L, Pan M, Zhang LN, Li FC, Zhang YL, Jing XY, Li DZ, Liao C.
    Zhonghua Fu Chan Ke Za Zhi; 2021 Jul 25; 56(7):458-466. PubMed ID: 34304437
    [Abstract] [Full Text] [Related]

  • 17. Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
    Deden C, Neveling K, Zafeiropopoulou D, Gilissen C, Pfundt R, Rinne T, de Leeuw N, Faas B, Gardeitchik T, Sallevelt SCEH, Paulussen A, Stevens SJC, Sikkel E, Elting MW, van Maarle MC, Diderich KEM, Corsten-Janssen N, Lichtenbelt KD, Lachmeijer G, Vissers LELM, Yntema HG, Nelen M, Feenstra I, van Zelst-Stams WAG.
    Prenat Diagn; 2020 Jul 25; 40(8):972-983. PubMed ID: 32333414
    [Abstract] [Full Text] [Related]

  • 18. Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
    Quinlan-Jones E, Lord J, Williams D, Hamilton S, Marton T, Eberhardt RY, Rinck G, Prigmore E, Keelagher R, McMullan DJ, Maher ER, Hurles ME, Kilby MD.
    Genet Med; 2019 May 25; 21(5):1065-1073. PubMed ID: 30293990
    [Abstract] [Full Text] [Related]

  • 19. Comprehensive prenatal diagnostics: Exome versus genome sequencing.
    Miceikaite I, Fagerberg C, Brasch-Andersen C, Torring PM, Kristiansen BS, Hao Q, Sperling L, Ibsen MH, Löser K, Bendsen EA, Ousager LB, Larsen MJ.
    Prenat Diagn; 2023 Aug 25; 43(9):1132-1141. PubMed ID: 37355983
    [Abstract] [Full Text] [Related]

  • 20. Whole exome sequencing of fetal structural anomalies detected by ultrasonography.
    Aoi H, Mizuguchi T, Suzuki T, Makino S, Yamamoto Y, Takeda J, Maruyama Y, Seyama R, Takeuchi S, Uchiyama Y, Azuma Y, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mitsuhashi S, Takata A, Miyake N, Takeda S, Itakura A, Matsumoto N.
    J Hum Genet; 2021 May 25; 66(5):499-507. PubMed ID: 33144663
    [Abstract] [Full Text] [Related]

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