Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
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 |
|
2 |
Material Type: Article
|
Use of suboptimal sperm increases the risk of aneuploidy of the sex chromosomes in preimplantation blastocyst embryosFertility and sterility, 2015-10, Vol.104 (4), p.866-872 [Peer Reviewed Journal]American Society for Reproductive Medicine ;2015 American Society for Reproductive Medicine ;Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2015.06.033 ;PMID: 26183314Full text available |
|
3 |
Material Type: Article
|
Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic lociPrenatal diagnosis, 2012-12, Vol.32 (13), p.1233-1241 [Peer Reviewed Journal]2012 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.3993 ;PMID: 23108718Full text available |
|
4 |
Material Type: Article
|
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's SyndromeArthritis & rheumatology (Hoboken, N.J.), 2016-05, Vol.68 (5), p.1290-1300 [Peer Reviewed Journal]2016, American College of Rheumatology ;2016, American College of Rheumatology. ;ISSN: 2326-5191 ;ISSN: 2326-5205 ;EISSN: 2326-5205 ;DOI: 10.1002/art.39560 ;PMID: 26713507Full text available |
|
5 |
Material Type: Article
|
A genomics approach to male infertilityGenetics in medicine, 2020-12, Vol.22 (12), p.1967-1975 [Peer Reviewed Journal]American College of Medical Genetics and Genomics 2020. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/s41436-020-0916-0 ;PMID: 32719396Full text available |
|
6 |
Material Type: Article
|
Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidiesNeuropsychopharmacology (New York, N.Y.), 2019-01, Vol.44 (1), p.9-21 [Peer Reviewed Journal]Copyright Nature Publishing Group Jan 2019 ;American College of Neuropsychopharmacology 2018 ;ISSN: 0893-133X ;EISSN: 1740-634X ;DOI: 10.1038/s41386-018-0153-2 ;PMID: 30127341Full text available |
|
7 |
Material Type: Article
|
Triple X syndrome: a review of the literatureEuropean journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271 [Peer Reviewed Journal]2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2010 ;Copyright © 2010 Macmillan Publishers Limited 2010 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2009.109 ;PMID: 19568271Full text available |
|
8 |
Material Type: Article
|
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [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: 2041-1723 ;EISSN: 2041-1723 ;DOI: 10.1038/s41467-019-12869-0 ;PMID: 31653860Full text available |
|
9 |
Material Type: Article
|
Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive casesGenetics in medicine, 2017-02, Vol.19 (2), p.169-175 [Peer Reviewed Journal]2017 The Author(s) ;Copyright Nature Publishing Group Feb 2017 ;Copyright © 2017 Official journal of the American College of Medical Genetics and Genomics 2017 Official journal of the American College of Medical Genetics and Genomics ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1038/gim.2016.72 ;PMID: 27362910Full text available |
|
10 |
Material Type: Article
|
Turner Syndrome with Mosaicism of X Chromosome: A Case ReportJournal of Nepal Medical Association, 2023-05, Vol.61 (261), p.482-484 [Peer Reviewed Journal]2018 ;ISSN: 0028-2715 ;EISSN: 1815-672X ;DOI: 10.31729/jnma.8168 ;PMID: 37203885Full text available |
|
11 |
Material Type: Article
|
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 |
|
12 |
Material Type: Article
|
Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasmaPrenatal diagnosis, 2013-06, Vol.33 (6), p.591-597 [Peer Reviewed Journal]2013 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4127 ;PMID: 23592550Full text available |
|
13 |
Material Type: Article
|
Detection of 45,X/46,X,r(X)(p11.3q22.1) in a 17-year-old girl with secondary amenorrhea, short stature and normal intelligenceTaiwanese journal of obstetrics & gynecology, 2024-01, Vol.63 (1), p.111-113 [Peer Reviewed Journal]ISSN: 1028-4559 ;DOI: 10.1016/j.tjog.2023.10.009Full text available |
|
14 |
Material Type: Article
|
Association between cell-free DNA fetal fraction and pregnant character: a retrospective cohort study of 27,793 maternal plasmasScientific reports, 2023-07, Vol.13 (1), p.11420-11420, Article 11420 [Peer Reviewed Journal]2023. The Author(s). ;The Author(s) 2023. 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) 2023 ;ISSN: 2045-2322 ;EISSN: 2045-2322 ;DOI: 10.1038/s41598-023-38151-4 ;PMID: 37452067Full text available |
|
15 |
Material Type: Article
|
The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenonPrenatal diagnosis, 2016-05, Vol.36 (5), p.391-396 [Peer Reviewed Journal]2016 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4804 ;PMID: 26941176Full text available |
|
16 |
Material Type: Article
|
Efficient generation of functional haploid spermatids from human germline stem cells by three-dimensional-induced systemCell death and differentiation, 2018-03, Vol.25 (4), p.749-766 [Peer Reviewed Journal]2018. This work is published under http://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;ADMC Associazione Differenziamento e Morte Cellulare 2018 ;ISSN: 1350-9047 ;EISSN: 1476-5403 ;DOI: 10.1038/s41418-017-0015-1 ;PMID: 29305586Full text available |
|
17 |
Material Type: Article
|
Influences of Brain Size, Sex, and Sex Chromosome Complement on the Architecture of Human Cortical FoldingCerebral cortex (New York, N.Y. 1991), 2017-12, Vol.27 (12), p.5557-5567 [Peer Reviewed Journal]Published by Oxford University Press 2016. ;Distributed under a Creative Commons Attribution 4.0 International License ;Published by Oxford University Press 2016. 2016 ;ISSN: 1047-3211 ;EISSN: 1460-2199 ;DOI: 10.1093/cercor/bhw323 ;PMID: 27799275Full text available |
|
18 |
Material Type: Article
|
Quality control and quality assurance in genotypic data for genome-wide association studiesGenetic epidemiology, 2010-09, Vol.34 (6), p.591-602 [Peer Reviewed Journal]2010 Wiley‐Liss, Inc. ;(c) 2010 Wiley-Liss, Inc. ;ISSN: 0741-0395 ;ISSN: 1098-2272 ;EISSN: 1098-2272 ;DOI: 10.1002/gepi.20516 ;PMID: 20718045Full text available |
|
19 |
Material Type: Article
|
Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2Journal of neurology, neurosurgery and psychiatry, 2013-11, Vol.84 (11), p.1247-1249 [Peer Reviewed Journal]Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;Copyright: 2013 Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions ;ISSN: 0022-3050 ;EISSN: 1468-330X ;DOI: 10.1136/jnnp-2013-305049 ;PMID: 23729695 ;CODEN: JNNPAUFull text available |
|
20 |
Material Type: Article
|
Response to Letter to the Editor: "Clinical but Not Histological Outcomes in Males With 45,X/46,XY Mosaicism Vary Depending on Reason for Diagnosis"The journal of clinical endocrinology and metabolism, 2019-12, Vol.104 (12), p.5812-5813 [Peer Reviewed Journal]COPYRIGHT 2019 Oxford University Press ;Copyright © 2019 Endocrine Society ;ISSN: 0021-972X ;EISSN: 1945-7197 ;DOI: 10.1210/jc.2019-01413 ;PMID: 31276168Full text available |