Results 1 - 20 of 53 for All Library Resources
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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |
| 9 |
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High false-positive non-invasive prenatal screening results for sex chromosome abnormalities: Are maternal factors the culprit?Prenatal diagnosis, 2020-03, Vol.40 (4), p.463 [Peer Reviewed Journal]2019 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5529 ;PMID: 31318441Digital Resources/Online E-Resources |
| 10 |
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Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samplesEuropean journal of human genetics : EJHG, 2009-01, Vol.17 (1), p.112-121 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright Nature Publishing Group Jan 2009 ;Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2008.161 ;PMID: 18781187Full text available |
| 11 |
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Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocentesesEuropean journal of human genetics : EJHG, 2009-07, Vol.17 (7), p.897-903 [Peer Reviewed Journal]2009 INIST-CNRS ;Copyright Nature Publishing Group Jul 2009 ;Copyright © 2009 Macmillan Publishers Limited 2009 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2008.265 ;PMID: 19156167Full text available |
| 12 |
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Performance of Cell-Free DNA Screening for Fetal Common Aneuploidies and Sex Chromosomal Abnormalities: A Prospective Study from a Less Developed Autonomous Region in Mainland ChinaGenes, 2021-03, Vol.12 (4), p.478 [Peer Reviewed Journal]2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12040478 ;PMID: 33806256Full text available |
| 13 |
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Embryonic loss of human females with partial trisomy 19 identifies region critical for the single active XPloS one, 2017-04, Vol.12 (4), p.e0170403 [Peer Reviewed Journal]COPYRIGHT 2017 Public Library of Science ;COPYRIGHT 2017 Public Library of Science ;2017 Migeon 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. ;2017 Migeon et al 2017 Migeon et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0170403 ;PMID: 28403217Full text available |
| 14 |
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Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosisAmerican journal of medical genetics. Part A, 2011-11, Vol.155A (11), p.2626-2633 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34284 ;PMID: 21990236Full text available |
| 15 |
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Outcome of prenatally diagnosed isolated clubfootUltrasound in obstetrics & gynecology, 2010-06, Vol.35 (6), p.708 [Peer Reviewed Journal](c) 2010 ISUOG. Published by John Wiley & Sons, Ltd. ;EISSN: 1469-0705 ;DOI: 10.1002/uog.7558 ;PMID: 20069547Digital Resources/Online E-Resources |
| 16 |
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Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian CaseInternational journal of molecular sciences, 2022-11, Vol.23 (22), p.14408 [Peer Reviewed Journal]2022 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2022 by the authors. 2022 ;ISSN: 1422-0067 ;ISSN: 1661-6596 ;EISSN: 1422-0067 ;DOI: 10.3390/ijms232214408 ;PMID: 36430887Full text available |
| 17 |
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Associations between fetal size, sex and placental angiogenesis in the pigBiology of reproduction, 2019-01, Vol.100 (1), p.239-252 [Peer Reviewed Journal]The Author(s) 2018. Published by Oxford University Press on behalf of Society for the Study of Reproduction. 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 reuse, distribution, and reproduction in any medium, provided the original work is properly cited. ;The Author(s) 2018. Published by Oxford University Press on behalf of Society for the Study of Reproduction. 2019 ;The Author(s) 2018. Published by Oxford University Press on behalf of Society for the Study of Reproduction. ;ISSN: 0006-3363 ;EISSN: 1529-7268 ;DOI: 10.1093/biolre/ioy184 ;PMID: 30137229Full text available |
| 18 |
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Chromosomal abnormalities in products of conception of first-trimester miscarriages detected by conventional cytogenetic analysis: a review of 1000 casesJournal of assisted reproduction and genetics, 2018-02, Vol.35 (2), p.265-271 [Peer Reviewed Journal]Springer Science+Business Media, LLC 2017 ;Journal of Assisted Reproduction and Genetics is a copyright of Springer, (2017). All Rights Reserved. ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-017-1069-1 ;PMID: 29086320Full text available |
| 19 |
Material Type: Article
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Parents' perspectives on the unforeseen finding of a fetal sex chromosomal aneuploidyPrenatal diagnosis, 2011-03, Vol.31 (3), p.286-292 [Peer Reviewed Journal]Copyright © 2011 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;ISSN: 1097-0223 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2707 ;PMID: 21294136Full text available |
| 20 |
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Prospective head-to-head comparison of accuracy of two sequencing platforms for screening for fetal aneuploidy by cell-free DNA: the PEGASUS studyEuropean journal of human genetics : EJHG, 2019-11, Vol.27 (11), p.1701-1715 [Peer Reviewed Journal]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: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/s41431-019-0443-0 ;PMID: 31231136Full text available |
Results 1 - 20 of 53 for All Library Resources
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- Fetuses (52)
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- Chromosome Aberrations (15)
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