Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Article
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The behavioral profile of children aged 1-5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)American journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.4442020 The Authors. American Journal of Medical Genetics Part C: Seminars in Medical Genetics published by Wiley Periodicals, Inc. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31788 ;PMID: 32432413Digital Resources/Online E-Resources |
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2 |
Material Type: Article
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Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX femalesAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.2792020 Wiley Periodicals LLC. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31799 ;PMID: 32489015Digital Resources/Online E-Resources |
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3 |
Material Type: Article
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A review of trisomy X (47,XXX)Orphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Peer Reviewed Journal]COPYRIGHT 2010 BioMed Central Ltd. ;COPYRIGHT 2010 BioMed Central Ltd. ;Copyright ©2010 Tartaglia et al; licensee BioMed Central Ltd. 2010 Tartaglia et al; licensee BioMed Central Ltd. ;ISSN: 1750-1172 ;EISSN: 1750-1172 ;DOI: 10.1186/1750-1172-5-8 ;PMID: 20459843Full text available |
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4 |
Material Type: Article
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The comorbidity landscape of 47,XXX syndrome: A nationwide epidemiologic studyGenetics in medicine, 2022-02, Vol.24 (2), p.475-487 [Peer Reviewed Journal]2021 American College of Medical Genetics and Genomics ;Copyright © 2021 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved. ;ISSN: 1098-3600 ;EISSN: 1530-0366 ;DOI: 10.1016/j.gim.2021.10.012 ;PMID: 34906506Digital Resources/Online E-Resources |
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5 |
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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6 |
Material Type: Article
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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre studyPrenatal diagnosis, 2016-06, Vol.36 (6), p.523-529 [Peer Reviewed Journal]2016 John Wiley & Sons, Ltd. ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.4817 ;PMID: 27018091Full text available |
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7 |
Material Type: Article
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A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysisJournal of applied genetics, 2024-05, Vol.65 (2), p.395 [Peer Reviewed Journal]2024. The Author(s), under exclusive licence to Institute of Plant Genetics Polish Academy of Sciences. ;EISSN: 2190-3883 ;DOI: 10.1007/s13353-024-00844-5 ;PMID: 38368284Digital Resources/Online E-Resources |
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8 |
Material Type: Article
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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,+21Molecular 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: 32463164Full text available |
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9 |
Material Type: Article
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Poor socio-economic status in 47,XXX --an unexpected effect of an extra X chromosomeEuropean journal of medical genetics, 2013-06, Vol.56 (6), p.286 [Peer Reviewed Journal]Copyright © 2013 Elsevier Masson SAS. All rights reserved. ;EISSN: 1878-0849 ;DOI: 10.1016/j.ejmg.2013.03.008 ;PMID: 23542668Digital Resources/Online E-Resources |
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10 |
Material Type: Article
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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital AnomaliesCytogenetic and genome research, 2019-01, Vol.159 (3), p.137-142 [Peer Reviewed Journal]2019 S. Karger AG, Basel ;2019 S. Karger AG, Basel. ;ISSN: 1424-8581 ;EISSN: 1424-859X ;DOI: 10.1159/000504238 ;PMID: 31786569Digital Resources/Online E-Resources |
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11 |
Material Type: Article
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Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature reviewAmerican journal of medical genetics. Part A, 2018-04, Vol.176 (4), p.1029 [Peer Reviewed Journal]EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38624 ;PMID: 29388329Digital Resources/Online E-Resources |
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12 |
Material Type: Article
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Mortality and incidence in women with 47,XXX and variantsAmerican journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.367-372 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33214 ;PMID: 20101696Full text available |
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13 |
Material Type: Article
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureMolecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Peer Reviewed Journal]2019 The Authors. published by Wiley Periodicals, Inc. ;2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;Copyright John Wiley & Sons, Inc. Jul 2019 ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.732 ;PMID: 31070017Full text available |
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14 |
Material Type: Article
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXGenes, 2021-06, Vol.12 (6), p.798 [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 (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. ;2021 by the authors. 2021 ;ISSN: 2073-4425 ;EISSN: 2073-4425 ;DOI: 10.3390/genes12060798 ;PMID: 34073864Full text available |
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15 |
Material Type: Article
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The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombinationHuman molecular genetics, 1994-08, Vol.3 (8), p.1365-1371 [Peer Reviewed Journal]1994 INIST-CNRS ;ISSN: 0964-6906 ;EISSN: 1460-2083 ;DOI: 10.1093/hmg/3.8.1365 ;PMID: 7987316Full text available |
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16 |
Material Type: Article
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Peer Reviewed Journal]Copyright 2002 Journal of Medical Genetics ;2002 INIST-CNRS ;COPYRIGHT 2002 BMJ Publishing Group Ltd. ;Copyright: 2002 Copyright 2002 Journal of Medical Genetics ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.39.3.217 ;PMID: 11897829 ;CODEN: JMDGAEFull text available |
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17 |
Material Type: Article
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Long-term survival in a 69,XXX triploid premature infantAmerican journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1618-1621 [Peer Reviewed Journal]Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32352 ;PMID: 18478596Full text available |
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18 |
Material Type: Article
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Peer Reviewed Journal]2016 Wiley Periodicals, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.37688 ;PMID: 27644018Full text available |
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19 |
Material Type: Article
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Recombinant chromosome 7 in a mosaic 45,X/47,XXX patientAmerican journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.206-214 [Peer Reviewed Journal]Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34364 ;PMID: 22106088Full text available |
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20 |
Material Type: Article
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Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypesAmerican journal of medical genetics, 2002-01, Vol.114 (1), p.93-98 [Peer Reviewed Journal]Copyright © 2001 Wiley‐Liss, Inc. ;2002 INIST-CNRS ;Copyright 2001 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.10154 ;PMID: 11840512 ;CODEN: AJMGDAFull text available |