Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Molecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Peer Reviewed Journal]2020 The Authors. published by Wiley Periodicals LLC ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2020. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1279 ;PMID: 32463164Full text available |
|
2 |
Material Type: Article
|
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetusArchives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Peer Reviewed Journal]Springer-Verlag Berlin Heidelberg 2013 ;Archives of Gynecology and Obstetrics is a copyright of Springer, (2013). All Rights Reserved. ;ISSN: 0932-0067 ;EISSN: 1432-0711 ;DOI: 10.1007/s00404-013-2847-3 ;PMID: 23625330Full text available |
|
3 |
Material Type: Article
|
A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidyPrenatal diagnosis, 2023-02, Vol.43 (2), p.133 [Peer Reviewed Journal]2023 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.6298 ;PMID: 36588186Digital Resources/Online E-Resources |
|
4 |
Material Type: Article
|
An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in ChinaThe journal of gene medicine, 2021-09, Vol.23 (9), p.e3362-n/a [Peer Reviewed Journal]2021 John Wiley & Sons, Ltd. ;ISSN: 1099-498X ;EISSN: 1521-2254 ;DOI: 10.1002/jgm.3362 ;PMID: 33973298Digital Resources/Online E-Resources |
|
5 |
Material Type: Article
|
Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testingClinical chemistry (Baltimore, Md.), 2014-01, Vol.60 (1), p.251-259 [Peer Reviewed Journal]COPYRIGHT 2014 American Association for Clinical Chemistry, Inc. ;Copyright American Association for Clinical Chemistry Jan 2014 ;ISSN: 0009-9147 ;EISSN: 1530-8561 ;DOI: 10.1373/clinchem.2013.215145 ;PMID: 24193117Full text available |
|
6 |
Material Type: Article
|
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencingProceedings of the National Academy of Sciences - PNAS, 2014-05, Vol.111 (20), p.7415-7420 [Peer Reviewed Journal]copyright © 1993–2008 National Academy of Sciences of the United States of America ;Copyright National Academy of Sciences May 20, 2014 ;ISSN: 0027-8424 ;EISSN: 1091-6490 ;DOI: 10.1073/pnas.1321997111 ;PMID: 24799683Full text available |
|
7 |
Material Type: Article
|
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospitalScientific reports, 2019-05, Vol.9 (1), p.7767-7767, Article 7767 [Peer Reviewed Journal]The Author(s) 2019. This work is published 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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-019-44018-4 ;PMID: 31123326Full text available |
|
8 |
Material Type: Article
|
Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian womenScientific reports, 2021-09, Vol.11 (1), p.19402-19402, Article 19402 [Peer Reviewed Journal]2021. The Author(s). ;The Author(s) 2021. This work is published 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: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-021-98928-3 ;PMID: 34593920Full text available |
|
9 |
Material Type: Article
|
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studiesMolecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1654-n/a [Peer Reviewed Journal]2021 The Authors. published by Wiley Periodicals LLC. ;2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2021. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1654 ;PMID: 33755350Full text available |
|
10 |
Material Type: Article
|
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnanciesAmerican journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1426 [Peer Reviewed Journal]2022 Wiley Periodicals LLC. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.62657 ;PMID: 35107205Digital Resources/Online E-Resources |
|
11 |
Material Type: Article
|
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective studyPrenatal diagnosis, 2017-06, Vol.37 (6), p.583 [Peer Reviewed Journal]2017 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5051 ;PMID: 28406537Digital Resources/Online E-Resources |
|
12 |
Material Type: Article
|
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 casesBMC medical genomics, 2021-04, Vol.14 (1), p.106-106, Article 106 [Peer Reviewed Journal]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/s12920-021-00955-6 ;PMID: 33853619Full text available |
|
13 |
Material Type: Article
|
Invited Commentary: Beyond Barker—Mothers Are the Ones at RiskAmerican journal of epidemiology, 2023-06, Vol.192 (6), p.878-881 [Peer Reviewed Journal]Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health 2023. 2023 ;Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health 2023. ;ISSN: 0002-9262 ;EISSN: 1476-6256 ;DOI: 10.1093/aje/kwad056 ;PMID: 36916821Digital Resources/Online E-Resources |
|
14 |
Material Type: Article
|
Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axisAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.3132020 Wiley Periodicals, Inc. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31782 ;PMID: 32170911Digital Resources/Online E-Resources |
|
15 |
Material Type: Article
|
High type I error and misrepresentations in search for transgenerational epigenetic inheritance: response to Guerrero-BosagnaGenome Biology, 2016-07, Vol.17 (1), p.154-154, Article 154 [Peer Reviewed Journal]2016. 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. ;Iqbal et al. 2016 ;ISSN: 1474-760X ;ISSN: 1474-7596 ;EISSN: 1474-760X ;DOI: 10.1186/s13059-016-0981-5 ;PMID: 27411809Full text available |
|
16 |
Material Type: Article
|
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.231-234 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Feb 2011 ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2010.148 ;PMID: 20736977Full text available |
|
17 |
Material Type: Article
|
Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCRPloS one, 2014-03, Vol.9 (3), p.e88932-e88932 [Peer Reviewed Journal]COPYRIGHT 2014 Public Library of Science ;COPYRIGHT 2014 Public Library of Science ;2014 Kong et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2014 Kong et al 2014 Kong et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0088932 ;PMID: 24625828Full text available |
|
18 |
Material Type: Article
|
Prognostic value of prenatally detected small or absent fetal stomach with particular reference to oesophageal atresiaArchives of disease in childhood. Fetal and neonatal edition, 2020-05, Vol.105 (3), p.341-342 [Peer Reviewed Journal]Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;2020 Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ. ;ISSN: 1359-2998 ;EISSN: 1468-2052 ;DOI: 10.1136/archdischild-2019-317959 ;PMID: 31744858Full text available |
|
19 |
Material Type: Article
|
Parental origin and mechanisms of formation of triploidy: a study of 25 casesEuropean journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.911-917 [Peer Reviewed Journal]Copyright Nature Publishing Group Dec 2000 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5200572 ;PMID: 11175278Full text available |
|
20 |
Material Type: Article
|
Biochemical properties and immunolocalization of minor collagens in foetal calf cartilageFEBS letters, 1982-09, Vol.146 (2), p.343-347 [Peer Reviewed Journal]1982 ;FEBS Letters 146 (1982) 1873-3468 © 2015 Federation of European Biochemical Societies ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0014-5793 ;EISSN: 1873-3468 ;DOI: 10.1016/0014-5793(82)80949-6 ;PMID: 6754446Full text available |