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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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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2 |
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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3 |
Material Type: Article
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The epidemiology of sex chromosome abnormalitiesAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.2022020 Wiley Periodicals LLC. ;EISSN: 1552-4876 ;DOI: 10.1002/ajmg.c.31805 ;PMID: 32506765Digital Resources/Online E-Resources |
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4 |
Material Type: Article
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Genetic counseling for sex chromosome abnormalitiesAmerican journal of medical genetics, 2002-06, Vol.110 (1), p.3-10 [Peer Reviewed Journal]Copyright © 2002 Wiley‐Liss, Inc. ;2002 INIST-CNRS ;Copyright 2002 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/ajmg.10391 ;PMID: 12116264 ;CODEN: AJMGDAFull text available |
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5 |
Material Type: Article
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The transcription factor E2F1 and the SR protein SC35 control the ratio of pro-angiogenic versus antiangiogenic isoforms of vascular endothelial growth factor-A to inhibit neovascularization in vivoOncogene, 2010-09, Vol.29 (39), p.5392-5403 [Peer Reviewed Journal]COPYRIGHT 2010 Nature Publishing Group ;Macmillan Publishers Limited 2010. ;Copyright Nature Publishing Group Sep 30, 2010 ;ISSN: 0950-9232 ;EISSN: 1476-5594 ;DOI: 10.1038/onc.2010.281 ;PMID: 20639906 ;CODEN: ONCNESFull text available |
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6 |
Material Type: Article
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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 |
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7 |
Material Type: Article
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Variation in the decision to terminate pregnancy in the setting of fetal aneuploidyPrenatal diagnosis, 2006-08, Vol.26 (8), p.667-671 [Peer Reviewed Journal]Copyright © 2006 John Wiley & Sons, Ltd. ;2006 INIST-CNRS ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1462 ;PMID: 16724363 ;CODEN: PRDIDMFull text available |
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8 |
Material Type: Article
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Is the prevalence of Klinefelter syndrome increasing?European journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.163-170 [Peer Reviewed Journal]2008 INIST-CNRS ;Copyright Nature Publishing Group Feb 2008 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201956 ;PMID: 18000523Full text available |
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9 |
Material Type: Article
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromePrenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Peer Reviewed Journal]Copyright © 2010 John Wiley & Sons, Ltd. ;2015 INIST-CNRS ;Distributed under a Creative Commons Attribution 4.0 International License ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2613 ;PMID: 20842625 ;CODEN: PRDIDMFull text available |
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10 |
Material Type: Article
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Assessing the role of placental trisomy in preeclampsia and intrauterine growth restrictionPrenatal diagnosis, 2010-01, Vol.30 (1), p.1-8 [Peer Reviewed Journal]Copyright © 2009 John Wiley & Sons, Ltd. ;2015 INIST-CNRS ;Copyright (c) 2009 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;ISSN: 1097-0223 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.2409 ;PMID: 19918961 ;CODEN: PRDIDMFull text available |
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11 |
Material Type: Article
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Trisomy Recurrence: A Reconsideration Based on North American DataAmerican 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: AJHGAGFull text available |
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12 |
Material Type: Article
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Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancyEuropean 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: 20736977Full text available |
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13 |
Material Type: Article
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Expression pattern of X-linked genes in sex chromosome aneuploid bovine cellsChromosome research, 2004-01, Vol.12 (3), p.263-273 [Peer Reviewed Journal]Kluwer Academic Publishers 2004 ;ISSN: 0967-3849 ;EISSN: 1573-6849 ;DOI: 10.1023/B:CHRO.0000021865.39998.89 ;PMID: 15125640Full text available |
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14 |
Material Type: Article
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Genetic significance of skewed X-chromosome inactivation in premature ovarian failureAmerican journal of medical genetics, 2004-10, Vol.130A (3), p.240-244 [Peer Reviewed Journal]Copyright © 2004 Wiley‐Liss, Inc. ;2004 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.30256 ;PMID: 15378546 ;CODEN: AJMGDAFull text available |
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15 |
Material Type: Article
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The Phenotype of mes-2, mes-3, mes-4 and mes-6, Maternal-Effect Genes Required for Survival of the Germline in Caenorhabditis elegans, Is Sensitive to Chromosome DosageGenetics (Austin), 1998-01, Vol.148 (1), p.167-185 [Peer Reviewed Journal]Copyright Genetics Society of America Jan 1998 ;ISSN: 0016-6731 ;ISSN: 1943-2631 ;EISSN: 1943-2631 ;DOI: 10.1093/genetics/148.1.167 ;PMID: 9475730 ;CODEN: GENTAEFull text available |
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16 |
Material Type: Article
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Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999American journal of medical genetics. Part A, 2003-06, Vol.119A (3), p.305-310 [Peer Reviewed Journal]Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.20150 ;PMID: 12784298Full text available |
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17 |
Material Type: Article
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Structural and numerical changes of chromosome X in patients with esophageal atresiaEuropean journal of human genetics : EJHG, 2014-09, Vol.22 (9), p.1077-1084 [Peer Reviewed Journal]Copyright Nature Publishing Group Sep 2014 ;Copyright © 2014 Macmillan Publishers Limited 2014 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2013.295 ;PMID: 24398799Full text available |
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18 |
Material Type: Article
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Mosaic Turner syndrome: cytogenetics versus FISHAnnals of human genetics, 1999-05, Vol.63 (3), p.199-206 [Peer Reviewed Journal]University College London 1999 ;1999 University College London ;1999 INIST-CNRS ;ISSN: 0003-4800 ;EISSN: 1469-1809 ;DOI: 10.1046/j.1469-1809.1999.6330199.x ;PMID: 10738532 ;CODEN: ANHGAAFull text available |
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19 |
Material Type: Article
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Prenatal ultrasonic diagnosis of obstructive bowel disease: A retrospective analysisPrenatal diagnosis, 1994-11, Vol.14 (11), p.1035-1041 [Peer Reviewed Journal]Copyright © 1994 John Wiley & Sons, Ltd. ;1995 INIST-CNRS ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1970141105 ;PMID: 7877951 ;CODEN: PRDIDMFull text available |
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20 |
Material Type: Article
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Expression of XIST sense and antisense in bovine fetal organs and cell culturesChromosome research, 2004-01, Vol.12 (3), p.275-283 [Peer Reviewed Journal]Kluwer Academic Publishers 2004 ;ISSN: 0967-3849 ;EISSN: 1573-6849 ;DOI: 10.1023/b:chro.0000021864.66235.81 ;PMID: 15125641Full text available |