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1
A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21
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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21

Molecular 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: 32463164

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2
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 fetus
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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 fetus

Archives 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: 23625330

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3
A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy
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A systematic review and meta-analysis of cell-free DNA testing for detection of fetal sex chromosome aneuploidy

Prenatal 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: 36588186

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4
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 China
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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 China

The 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: 33973298

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5
Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing
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Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing

Clinical 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: 24193117

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6
Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing
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Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

Proceedings 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: 24799683

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7
Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital
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Clinical application of noninvasive prenatal screening for sex chromosome aneuploidies in 50,301 pregnancies: initial experience in a Chinese hospital

Scientific 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: 31123326

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8
Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women
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Karyotype analysis of amniotic fluid cells and report of chromosomal abnormalities in 15,401 cases of Iranian women

Scientific 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: 34593920

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9
Non‐invasive prenatal testing for the prenatal screening of sex chromosome aneuploidies: A systematic review and meta‐analysis of diagnostic test accuracy studies
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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 studies

Molecular 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: 33755350

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10
Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies
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Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnancies

American 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: 35107205

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11
Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study
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Non-invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective study

Prenatal 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: 28406537

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12
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

BMC 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: 33853619

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13
Invited Commentary: Beyond Barker—Mothers Are the Ones at Risk
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Invited Commentary: Beyond Barker—Mothers Are the Ones at Risk

American 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: 36916821

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14
Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis
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Human sex chromosome aneuploidies: The hypothalamic-pituitary-gonadal axis

American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.313

2020 Wiley Periodicals, Inc. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31782 ;PMID: 32170911

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15
High type I error and misrepresentations in search for transgenerational epigenetic inheritance: response to Guerrero-Bosagna
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High type I error and misrepresentations in search for transgenerational epigenetic inheritance: response to Guerrero-Bosagna

Genome 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: 27411809

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16
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy

European 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: 20736977

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17
Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR
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Rapid diagnosis of aneuploidy using segmental duplication quantitative fluorescent PCR

PloS 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: 24625828

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18
Prognostic value of prenatally detected small or absent fetal stomach with particular reference to oesophageal atresia
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Prognostic value of prenatally detected small or absent fetal stomach with particular reference to oesophageal atresia

Archives 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: 31744858

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19
Parental origin and mechanisms of formation of triploidy: a study of 25 cases
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Parental origin and mechanisms of formation of triploidy: a study of 25 cases

European 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: 11175278

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20
Biochemical properties and immunolocalization of minor collagens in foetal calf cartilage
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Biochemical properties and immunolocalization of minor collagens in foetal calf cartilage

FEBS 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: 6754446

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