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Material Type: Article
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnanciesMolecular cytogenetics, 2018-12, Vol.11 (1), p.59-59, Article 59 [Peer Reviewed Journal]COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2018 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-018-0407-z ;PMID: 30524505Full text available |
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Material Type: Article
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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity testMolecular cytogenetics, 2019-07, Vol.12 (1), p.34-34, Article 34 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;2019. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s). 2019 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-019-0446-0 ;PMID: 31338126Full text available |
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Material Type: Article
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Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidiesBMC medical genomics, 2012-12, Vol.5 (1), p.57-57, Article 57 [Peer Reviewed Journal]COPYRIGHT 2012 BioMed Central Ltd. ;COPYRIGHT 2012 BioMed Central Ltd. ;2012 Jiang et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright ©2012 Jiang et al.; licensee BioMed Central Ltd. 2012 Jiang et al.; licensee BioMed Central Ltd. ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/1755-8794-5-57 ;PMID: 23198897Full text available |
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Material Type: Article
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Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variationsBMC medical genomics, 2021-12, Vol.14 (1), p.292-292, Article 292 [Peer Reviewed Journal]2021. The Author(s). ;COPYRIGHT 2021 BioMed Central Ltd. ;2021. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2021 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-01131-6 ;PMID: 34895207Full text available |
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Material Type: Article
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Trends in the prevalence, prenatal diagnosis, and outcomes of births with chromosomal abnormalities: a hospital-based study in Zhejiang Province, China during 2014-2020Orphanet journal of rare diseases, 2022-12, Vol.17 (1), p.446-446, Article 446 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;The Author(s) 2022 ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-022-02594-1 ;PMID: 36550515Full text available |
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Material Type: Article
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Identification of copy number variations among fetuses with isolated ultrasound soft markers in pregnant women not of advanced maternal ageOrphanet journal of rare diseases, 2024-02, Vol.19 (1), p.56-56 [Peer Reviewed Journal]2024. The Author(s). ;COPYRIGHT 2024 BioMed Central Ltd. ;2024. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-024-03066-4 ;PMID: 38336695Full text available |
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Material Type: Article
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Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patientsBMC medical genomics, 2022-04, Vol.15 (1), p.90-90, Article 90 [Peer Reviewed Journal]2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. This work is licensed under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;The Author(s) 2022 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-022-01240-w ;PMID: 35436901Full text available |
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Material Type: Article
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Enlarged NT (≥3.5 mm) in the first trimester - not all chromosome aberrations can be detected by NIPTMolecular cytogenetics, 2016-09, Vol.9 (1), p.69-69, Article 69 [Peer Reviewed Journal]COPYRIGHT 2016 BioMed Central Ltd. ;Copyright BioMed Central 2016 ;The Author(s). 2016 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-016-0279-z ;PMID: 27610202Full text available |
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Material Type: Article
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The reliability of maternal serum triple test in prenatal diagnosis of fetal chromosomal abnormalities of pregnant Turkish womenGenetic testing and molecular biomarkers, 2011-10, Vol.15 (10), p.701-707 [Peer Reviewed Journal]COPYRIGHT 2011 Mary Ann Liebert, Inc. ;COPYRIGHT 2011 Mary Ann Liebert, Inc. ;ISSN: 1945-0265 ;EISSN: 1945-0257 ;DOI: 10.1089/gtmb.2010.0171 ;PMID: 21699408Full text available |
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Material Type: Article
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A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testingsMolecular cytogenetics, 2014-07, Vol.7 (1), p.48-48, Article 48 [Peer Reviewed Journal]COPYRIGHT 2014 BioMed Central Ltd. ;2014 Pan et al.; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. ;Copyright © 2014 Pan et al.; licensee BioMed Central Ltd. 2014 Pan et al.; licensee BioMed Central Ltd. ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/1755-8166-7-48 ;PMID: 25478006Full text available |
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Material Type: Article
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Trisomy Xp and partial tetrasomy Xq resulting from gain of a rearranged X chromosome in a female fetus: pathogenic or not?Molecular cytogenetics, 2015-07, Vol.8 (1), p.53, Article 53 [Peer Reviewed Journal]COPYRIGHT 2015 BioMed Central Ltd. ;Copyright BioMed Central 2015 ;Yiu et al. 2015 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-015-0160-5 ;PMID: 26213575Full text available |