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| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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| 1 |
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45,XO/47,XXX/46,XX Male Sex Reversal Syndrome. A Case ReportJournal of reproductive medicine, 2016-09, Vol.61 (9-10), p.510 [Peer Reviewed Journal]ISSN: 0024-7758 ;EISSN: 1943-3565 ;PMID: 30383953Digital Resources/Online E-Resources |
| 2 |
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Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18Prenatal diagnosis, 2000-09, Vol.20 (9), p.750-753 [Peer Reviewed Journal]Copyright © 2000 John Wiley & Sons, Ltd. ;Copyright 2000 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/1097-0223(200009)20:9<750::AID-PD900>3.0.CO;2-E ;PMID: 11015706Full text available |
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47,XXX male: A clinical and molecular studyAmerican journal of medical genetics, 2001-02, Vol.98 (4), p.353-356 [Peer Reviewed Journal]Copyright © 2001 Wiley‐Liss, Inc. ;2001 INIST-CNRS ;Copyright 2001 Wiley-Liss, Inc. ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/1096-8628(20010201)98:4<353::AID-AJMG1110>3.0.CO;2-D ;PMID: 11170081 ;CODEN: AJMGDAFull text available |
| 4 |
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45,X/46,XX/47,XXX phenotypePrenatal diagnosis, 1993-12, Vol.13 (12), p.1165-1166 [Peer Reviewed Journal]Copyright © 1993 John Wiley & Sons, Ltd. ;ISSN: 0197-3851 ;EISSN: 1097-0223 ;DOI: 10.1002/pd.1970131219 ;PMID: 8177840Full text available |
| 5 |
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Psychosocial competence of unselected young adults with sex chromosome abnormalitiesAmerican journal of medical genetics, 1999-04, Vol.88 (2), p.200-206 [Peer Reviewed Journal]Copyright © 1999 Wiley‐Liss, Inc. ;1999 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/(SICI)1096-8628(19990416)88:2<200::AID-AJMG18>3.0.CO;2-3 ;PMID: 10206242 ;CODEN: AJMGDAFull text available |
| 6 |
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Fifty-one prenatally diagnosed children and adolescents with sex chromosome abnormalitiesAmerican journal of medical genetics, 2002-06, Vol.110 (1), p.11-18 [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.10394 ;PMID: 12116265 ;CODEN: AJMGDAFull text available |
| 7 |
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Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunctionHuman genetics, 1989-02, Vol.81 (3), p.247-251 [Peer Reviewed Journal]1989 INIST-CNRS ;ISSN: 0340-6717 ;EISSN: 1432-1203 ;DOI: 10.1007/BF00278998 ;PMID: 2921034 ;CODEN: HUGEDQFull text available |
| 8 |
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Twin pregnancy in woman with 45,X/47,XXX karyotypeObstetrics and gynecology (New York. 1953), 1980-09, Vol.56 (3), p.401 [Peer Reviewed Journal]ISSN: 0029-7844 ;EISSN: 1873-233X ;PMID: 7422184Digital Resources/Online E-Resources |
| 9 |
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Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomiesAmerican journal of medical genetics, 1998-12, Vol.80 (4), p.330-334 [Peer Reviewed Journal]Copyright © 1998 Wiley‐Liss, Inc. ;1999 INIST-CNRS ;ISSN: 0148-7299 ;EISSN: 1096-8628 ;DOI: 10.1002/(SICI)1096-8628(19981204)80:4<330::AID-AJMG6>3.0.CO;2-7 ;PMID: 9856559 ;CODEN: AJMGDAFull text available |
| 10 |
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47,XXX karyotype obtained by amniocentesisObstetrics and gynecology (New York. 1953), 1976-08, Vol.48 (2), p.233 [Peer Reviewed Journal]ISSN: 0029-7844 ;EISSN: 1873-233X ;PMID: 133305Digital Resources/Online E-Resources |
| 11 |
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Prenatal Diagnosis of Congenital Diaphragmatic Hernia in a McFadden Kalousek Type 2 Triploid FetusFetal diagnosis and therapy, 2004-01, Vol.19 (1), p.49-51 [Peer Reviewed Journal]2004 S. Karger AG, Basel ;2004 INIST-CNRS ;Copyright 2004 S. Karger AG, Basel ;ISSN: 1015-3837 ;EISSN: 1421-9964 ;DOI: 10.1159/000074260 ;PMID: 14646418Full text available |
| 12 |
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The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomesJournal of assisted reproduction and genetics, 2022-05, Vol.39 (5), p.1143-1153 [Peer Reviewed Journal]The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022 ;2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature. ;The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2022. ;ISSN: 1058-0468 ;EISSN: 1573-7330 ;DOI: 10.1007/s10815-022-02469-1 ;PMID: 35320443Full text available |
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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndromeHuman 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: 26251461Full text available |
| 14 |
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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 |
| 15 |
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Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencingObstetrics and gynecology (New York. 1953), 2012-05, Vol.119 (5), p.890 [Peer Reviewed Journal]EISSN: 1873-233X ;DOI: 10.1097/AOG.0b013e31824fb482 ;PMID: 22362253Digital Resources/Online E-Resources |
| 16 |
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Traditional karyotyping vs copy number variation sequencing for detection of chromosomal abnormalities associated with spontaneous miscarriageUltrasound in obstetrics & gynecology, 2015-10, Vol.46 (4), p.472 [Peer Reviewed Journal]Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd. ;EISSN: 1469-0705 ;DOI: 10.1002/uog.14849 ;PMID: 25767059Digital Resources/Online E-Resources |
| 17 |
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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 |
| 18 |
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Increased number of sex chromosomes affects height in a nonlinear fashion: A study of 305 patients with sex chromosome aneuploidyAmerican journal of medical genetics. Part A, 2010-05, Vol.152A (5), p.1206-1212 [Peer Reviewed Journal]Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33334 ;PMID: 20425825Full text available |
| 19 |
Material Type: Article
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Twenty years of endocrinologic treatment in transsexualism: analyzing the role of chromosomal analysis and hormonal profiling in the diagnostic work-upFertility and sterility, 2013-10, Vol.100 (4), p.1103-1110 [Peer Reviewed Journal]American Society for Reproductive Medicine ;2013 American Society for Reproductive Medicine ;Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. ;ISSN: 0015-0282 ;EISSN: 1556-5653 ;DOI: 10.1016/j.fertnstert.2013.05.047 ;PMID: 23809495Full text available |
| 20 |
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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