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1 |
Material Type: Article
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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case reportMedicine (Baltimore), 2022-10, Vol.101 (43), p.e31443-e31443 [Peer Reviewed Journal]Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. ;Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc. 2022 ;ISSN: 0025-7974 ;EISSN: 1536-5964 ;DOI: 10.1097/MD.0000000000031443 ;PMID: 36316845Full text available |
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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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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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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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Material Type: Article
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic WomanInternal Medicine, 2014, Vol.53(7), pp.783-787 [Peer Reviewed Journal]2014 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.53.1325 ;PMID: 24694497Full text available |
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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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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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Material Type: Article
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Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XXThe journal of obstetrics and gynaecology research, 2014-01, Vol.40 (1), p.259-262 [Peer Reviewed Journal]2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology ;2013 The Authors. Journal of Obstetrics and Gynaecology Research © 2013 Japan Society of Obstetrics and Gynecology. ;ISSN: 1341-8076 ;EISSN: 1447-0756 ;DOI: 10.1111/jog.12131 ;PMID: 23937348Full text available |
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9 |
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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Material Type: Article
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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 fetusArchives 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: 23625330Full text available |
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Material Type: Article
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Ultrasound imaging for the rheumatologist XXX. Sonographic assessment of the painful kneeClinical and experimental rheumatology, 2010-11, Vol.28 (6), p.803-805 [Peer Reviewed Journal]2015 INIST-CNRS ;ISSN: 0392-856X ;EISSN: 1593-098X ;PMID: 21205458Full text available |
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12 |
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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13 |
Material Type: Article
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Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular eventsRheumatology (Oxford, England), 2005-07, Vol.44 (7), p.864-868 [Peer Reviewed Journal]2005 INIST-CNRS ;Copyright Oxford University Press(England) Jul 2005 ;ISSN: 1462-0324 ;EISSN: 1462-0332 ;DOI: 10.1093/rheumatology/keh613 ;PMID: 15797975 ;CODEN: BJRHDFFull text available |
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Material Type: Article
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The craniofacial complex in 47, XXX femalesEuropean journal of orthodontics, 2005-08, Vol.27 (4), p.396-401 [Peer Reviewed Journal]ISSN: 0141-5387 ;EISSN: 1460-2210 ;DOI: 10.1093/ejo/cji016 ;PMID: 16043476 ;CODEN: EJOODKFull text available |
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15 |
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 |
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16 |
Material Type: Article
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Duodenal atresia in an infant with triple‐X syndrome: A new associated malformation in 47,XXXBirth defects research. A Clinical and molecular teratology, 2007-08, Vol.79 (8), p.612-613 [Peer Reviewed Journal]Copyright © 2007 Wiley‐Liss, Inc. ;2007 Wiley-Liss, Inc. ;ISSN: 1542-0752 ;EISSN: 1542-0760 ;DOI: 10.1002/bdra.20371 ;PMID: 17469201Full text available |
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17 |
Material Type: Article
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Acromegaly Accompanied by Turner Syndrome with 47,XXX/45,X/46,XX MosaicismInternal Medicine, 2009, Vol.48(6), pp.447-453 [Peer Reviewed Journal]2009 by The Japanese Society of Internal Medicine ;ISSN: 0918-2918 ;EISSN: 1349-7235 ;DOI: 10.2169/internalmedicine.48.1157 ;PMID: 19293545Full text available |
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18 |
Material Type: Article
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Presentation and Outcomes of C4d‐Negative Antibody‐Mediated Rejection After Kidney TransplantationAmerican journal of transplantation, 2016-01, Vol.16 (1), p.213-220 [Peer Reviewed Journal]Copyright 2015 The American Society of Transplantation and the American Society of Transplant Surgeons ;Copyright 2015 The American Society of Transplantation and the American Society of Transplant Surgeons. ;ISSN: 1600-6135 ;EISSN: 1600-6143 ;DOI: 10.1111/ajt.13434 ;PMID: 26317487Full text available |
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19 |
Material Type: Article
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Kallmann syndrome in a 47,XXX patientAmerican journal of medical genetics. Part A, 2005-11, Vol.139A (1), p.52-53 [Peer Reviewed Journal]Copyright © 2005 Wiley‐Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.30996 ;PMID: 16222664Full text available |
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20 |
Material Type: Article
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Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two casesPrenatal diagnosis, 2004-12, Vol.24 (12), p.1020-1021 [Peer Reviewed Journal]Copyright © 2004 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1047 ;PMID: 15614873Full text available |