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1
Prenatal diagnosis and gonadal findings in X/XXX mosaicism
Prenatal diagnosis and gonadal findings in X/XXX mosaicism
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Prenatal diagnosis and gonadal findings in X/XXX mosaicism

Journal of medical genetics, 1977-04, Vol.14 (2), p.120-123 [Peer Reviewed Journal]

Copyright BMJ Publishing Group LTD Apr 1977 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.14.2.120 ;PMID: 856232 ;CODEN: JMDGAE

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2
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases
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Noninvasive prenatal testing for assessing foetal sex chromosome aneuploidy: a retrospective study of 45,773 cases

Molecular cytogenetics, 2021-01, Vol.14 (1), p.1-1, Article 1 [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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-020-00521-2 ;PMID: 33407708

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3
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

PloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Samango-Sprouse 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. ;2016 Samango-Sprouse et al 2016 Samango-Sprouse et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0161045 ;PMID: 27512996

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4
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome
Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome
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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome

Human reproduction (Oxford), 2015-10, Vol.30 (10), p.2419-2426 [Peer Reviewed Journal]

The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com 2015 ;The Author 2015. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oup.com. ;ISSN: 0268-1161 ;EISSN: 1460-2350 ;DOI: 10.1093/humrep/dev192 ;PMID: 26251461

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5
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

Molecular 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: 30524505

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6
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review

Molecular cytogenetics, 2022-07, Vol.15 (1), p.1-29, Article 29 [Peer Reviewed Journal]

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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-022-00607-z ;PMID: 35794576

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7
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
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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8
Invited Commentary: Beyond Barker—Mothers Are the Ones at Risk
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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9
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test

Molecular 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: 31338126

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10
Invited Commentary: Intermittent Opioid Use and Ischemic Placental Disease—Clarifying Associations With Adverse Pregnancy Outcomes
Invited Commentary: Intermittent Opioid Use and Ischemic Placental Disease—Clarifying Associations With Adverse Pregnancy Outcomes
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Invited Commentary: Intermittent Opioid Use and Ischemic Placental Disease—Clarifying Associations With Adverse Pregnancy Outcomes

American journal of epidemiology, 2022-03, Vol.191 (5), p.769-772 [Peer Reviewed Journal]

The Author(s) 2021. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. 2021 ;The Author(s) 2021. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. ;ISSN: 0002-9262 ;EISSN: 1476-6256 ;DOI: 10.1093/aje/kwab225 ;PMID: 34528062

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11
Triploidy: Variation of Phenotype
Triploidy: Variation of Phenotype
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Triploidy: Variation of Phenotype

American journal of clinical pathology, 2016-01, Vol.145 (1), p.86-95 [Peer Reviewed Journal]

American Society for Clinical Pathology, 2016. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com. ;Copyright Oxford University Press Jan 2016 ;ISSN: 0002-9173 ;EISSN: 1943-7722 ;DOI: 10.1093/AJCP/AQV012 ;PMID: 26712875

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12
Trisomy Recurrence: A Reconsideration Based on North American Data
Trisomy Recurrence: A Reconsideration Based on North American Data
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Trisomy Recurrence: A Reconsideration Based on North American Data

American journal of human genetics, 2004-09, Vol.75 (3), p.376-385 [Peer Reviewed Journal]

2004 The American Society of Human Genetics ;2005 INIST-CNRS ;2004 by The American Society of Human Genetics. All rights reserved. 2004 ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;DOI: 10.1086/423331 ;PMID: 15248154 ;CODEN: AJHGAG

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13
Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy
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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14
Extended survival of a premature infant with a postnatal diagnosis of complete triploidy
Extended survival of a premature infant with a postnatal diagnosis of complete triploidy
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Extended survival of a premature infant with a postnatal diagnosis of complete triploidy

BMJ case reports, 2022-02, Vol.15 (2), p.e244551 [Peer Reviewed Journal]

BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;2022 BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. ;BMJ Publishing Group Limited 2022. No commercial re-use. See rights and permissions. Published by BMJ. 2022 ;ISSN: 1757-790X ;EISSN: 1757-790X ;DOI: 10.1136/bcr-2021-244551 ;PMID: 35131773

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15
The chromosome constitution of human preimplantation embryos fertilized in vitro
The chromosome constitution of human preimplantation embryos fertilized in vitro
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The chromosome constitution of human preimplantation embryos fertilized in vitro

Human reproduction (Oxford), 1994-04, Vol.9 (4), p.709-715 [Peer Reviewed Journal]

1994 INIST-CNRS ;ISSN: 0268-1161 ;EISSN: 1460-2350 ;DOI: 10.1093/oxfordjournals.humrep.a138575 ;PMID: 8046027 ;CODEN: HUREEE

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16
The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes
The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes
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The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes

American journal of human genetics, 1989-12, Vol.45 (6), p.855-861 [Peer Reviewed Journal]

1990 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 2589318 ;CODEN: AJHGAG

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17
Chromosomal abnormality rates at amniocentesis and in live-born infants
Chromosomal abnormality rates at amniocentesis and in live-born infants
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Chromosomal abnormality rates at amniocentesis and in live-born infants

JAMA : the journal of the American Medical Association, 1983-04, Vol.249 (15), p.2034 [Peer Reviewed Journal]

ISSN: 0098-7484 ;EISSN: 1538-3598 ;DOI: 10.1001/jama.1983.03330390038028 ;PMID: 6220164

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18
Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age
Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age
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Chromosome abnormalities and spontaneous fetal death following amniocentesis: further data and associations with maternal age

American journal of human genetics, 1983-01, Vol.35 (1), p.110-116 [Peer Reviewed Journal]

ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 6218752

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19
Thickened nuchal fold in fetuses not at risk for aneuploidy
Thickened nuchal fold in fetuses not at risk for aneuploidy
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Thickened nuchal fold in fetuses not at risk for aneuploidy

Radiology, 1992-07, Vol.184 (1), p.239-242 [Peer Reviewed Journal]

1992 INIST-CNRS ;ISSN: 0033-8419 ;EISSN: 1527-1315 ;DOI: 10.1148/radiology.184.1.1535162 ;PMID: 1535162 ;CODEN: RADLAX

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20
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?
Maternal-age effect in aneuploidy: does altered embryonic selection play a role?
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Maternal-age effect in aneuploidy: does altered embryonic selection play a role?

American journal of human genetics, 1982-07, Vol.34 (4), p.558-565 [Peer Reviewed Journal]

ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 6213153

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