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Material Type: Article
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A case of placental trisomy 18 mosaicism causing a false negative NIPT resultMolecular cytogenetics, 2017-10, Vol.10 (1), p.40-4, Article 40 [Peer Reviewed Journal]COPYRIGHT 2017 BioMed Central Ltd. ;Copyright BioMed Central 2017 ;The Author(s). 2017 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-017-0341-5 ;PMID: 29093756Full text available |
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Material Type: Article
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Adherence of cell-free DNA noninvasive prenatal screens to ACMG recommendationsGenetics in medicine, 2019-10, Vol.21 (10), p.2285-2292 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2019. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-019-0485-2 ;PMID: 30940924Full text available |
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3 |
Material Type: Article
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Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 casesJournal of human genetics, 1998-06, Vol.43 (2), p.85-90 [Peer Reviewed Journal]ISSN: 1434-5161 ;EISSN: 1435-232X ;DOI: 10.1007/s100380050046 ;PMID: 9621511Digital Resources/Online E-Resources |
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Material Type: Article
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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 |
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Material Type: Article
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Analyzing false‐negative results detected in low‐risk non‐invasive prenatal screening casesMolecular genetics & genomic medicine, 2020-04, Vol.8 (4), p.e1185-n/a [Peer Reviewed Journal]2020 The Authors. published by Wiley Periodicals, Inc. ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;2020. 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. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1185 ;PMID: 32067421Full text available |
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6 |
Material Type: Article
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Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flowEuropean journal of human genetics : EJHG, 2011-12, Vol.19 (12), p.1230-1237 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Dec 2011 ;Distributed under a Creative Commons Attribution 4.0 International License ;Copyright © 2011 Macmillan Publishers Limited 2011 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2011.119 ;PMID: 21694736Full text available |
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Material Type: Article
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Application of the prenatal BACs-on-Beads™ assay for rapid prenatal detection of sex chromosome mosaicismMolecular genetics and genomics : MGG, 2022-09, Vol.297 (5), p.1423-1438 [Peer Reviewed Journal]The Author(s) 2022 ;The Author(s) 2022. 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. ;ISSN: 1617-4615 ;EISSN: 1617-4623 ;DOI: 10.1007/s00438-022-01931-0 ;PMID: 35902388Full text available |
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8 |
Material Type: Article
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Are all chromosome microarrays the same? What clinicians need to knowPrenatal diagnosis, 2019-02, Vol.39 (3), p.157 [Peer Reviewed Journal]2019 John Wiley & Sons, Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5422 ;PMID: 30673135Digital Resources/Online E-Resources |
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9 |
Material Type: Article
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Cell-free DNA screening and sex chromosome aneuploidiesPrenatal diagnosis, 2015-10, Vol.35 (10), p.980-985 [Peer Reviewed Journal]2015 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4639 ;PMID: 26088741Full text available |
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10 |
Material Type: Article
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Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasmaMolecular cytogenetics, 2020-03, Vol.13 (1), p.10-10, Article 10 [Peer Reviewed Journal]The Author(s). 2020. ;COPYRIGHT 2020 BioMed Central Ltd. ;2020. 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). 2020 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-020-0478-5 ;PMID: 32190123Full text available |
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11 |
Material Type: Article
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Challenges in the diagnosis of fetal non-chromosomal abnormalities at 11-13 weeksPrenatal diagnosis, 2011-01, Vol.31 (1), p.90-102 [Peer Reviewed Journal]Copyright © 2011 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;ISSN: 1097-0223 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2642 ;PMID: 21210483Full text available |
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12 |
Material Type: Article
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Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative ReviewGenes, 2021-03, Vol.12 (4), p.501 [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/genes12040501 ;PMID: 33805390Full text available |
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13 |
Material Type: Article
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Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort studyOrphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Peer Reviewed Journal]COPYRIGHT 2019 BioMed Central Ltd. ;COPYRIGHT 2019 BioMed Central Ltd. ;Copyright © 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: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/s13023-018-0976-2 ;PMID: 30642344Full text available |
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Material Type: Article
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Cherchez la femme: maternal incidental findings can explain discordant prenatal cell-free DNA sequencing resultsGenetics in medicine, 2018-09, Vol.20 (9), p.910-917 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2018 ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2017.219 ;PMID: 29215645Full text available |
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15 |
Material Type: Article
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Children with sex chromosome trisomies: parental disclosure of genetic statusEuropean journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.638-644 [Peer Reviewed Journal]Copyright Nature Publishing Group May 2016 ;Copyright © 2016 Macmillan Publishers Limited 2016 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2015.168 ;PMID: 26306644Full text available |
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16 |
Material Type: Article
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Chromosomal Abnormalities in Patients With Autism Spectrum Disorders From TaiwanAmerican journal of medical genetics. Part B, Neuropsychiatric genetics, 2013-10, Vol.162B (7), p.734-741 [Peer Reviewed Journal]2013 Wiley Periodicals, Inc. ;ISSN: 1552-4841 ;EISSN: 1552-485X ;DOI: 10.1002/ajmg.b.32153 ;PMID: 24132905Full text available |
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17 |
Material Type: Article
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Chromosomal disorders: estimating baseline birth prevalence and pregnancy outcomes worldwideJournal of community genetics, 2018-10, Vol.9 (4), p.377-386 [Peer Reviewed Journal]The Author(s) 2017 ;ISSN: 1868-310X ;EISSN: 1868-6001 ;DOI: 10.1007/s12687-017-0336-2 ;PMID: 28948513Full text available |
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18 |
Material Type: Article
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Chromosomal microarray analysis as a first-line test in pregnancies with a priori low risk for the detection of submicroscopic chromosomal abnormalitiesEuropean journal of human genetics : EJHG, 2013-07, Vol.21 (7), p.725-730 [Peer Reviewed Journal]Copyright Nature Publishing Group Jul 2013 ;Copyright © 2013 Macmillan Publishers Limited 2013 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2012.253 ;PMID: 23211699Full text available |
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19 |
Material Type: Article
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Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosisPrenatal diagnosis, 2021-04, Vol.41 (5), p.631 [Peer Reviewed Journal]2021 John Wiley & Sons Ltd. ;EISSN: 1097-0223 ;DOI: 10.1002/pd.5931 ;PMID: 33720449Digital Resources/Online E-Resources |
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20 |
Material Type: Article
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Chromosome Aberrations Identified by Cytogenetic Analysis of the First Two Clones of Cultured Amniotic Fluid Cells Compared with QF-PCR ResultsCytogenetic and genome research, 2014-01, Vol.142 (4), p.239-244 [Peer Reviewed Journal]2014 S. Karger AG, Basel ;2014 S. Karger AG, Basel. ;ISSN: 1424-8581 ;EISSN: 1424-859X ;DOI: 10.1159/000362524 ;PMID: 24853086Full text available |