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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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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2 |
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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3 |
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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4 |
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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5 |
Material Type: Article
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Double trisomy with 48, XXX+21 karyotype in a Down’s syndrome child from Jammu and Kashmir, IndiaJournal of genetics, 2008-12, Vol.87 (3), p.257-259 [Peer Reviewed Journal]Indian Academy of Sciences 2008 ;ISSN: 0022-1333 ;EISSN: 0973-7731 ;DOI: 10.1007/s12041-008-0039-x ;PMID: 19147910Full text available |
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6 |
Material Type: Article
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The parental origin of the extra X chromosome in 47,XXX femalesAmerican journal of human genetics, 1990-04, Vol.46 (4), p.754-761 [Peer Reviewed Journal]1991 INIST-CNRS ;ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 2316522 ;CODEN: AJHGAGFull text available |
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7 |
Material Type: Article
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Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidyJournal of medical genetics, 1993-07, Vol.30 (7), p.597-600 [Peer Reviewed Journal]1993 INIST-CNRS ;Copyright BMJ Publishing Group LTD Jul 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.7.597 ;PMID: 8411035 ;CODEN: JMDGAEFull text available |
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8 |
Material Type: Article
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Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old childJournal of medical genetics, 1997-03, Vol.34 (3), p.246-249 [Peer Reviewed Journal]1997 INIST-CNRS ;Copyright BMJ Publishing Group LTD Mar 1997 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.34.3.246 ;PMID: 9132499 ;CODEN: JMDGAEFull text available |
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9 |
Material Type: Article
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46,XX/69,XXX diploid-triploid mixoploidy with hypothyroidism and precocious pubertyJournal of medical genetics, 1993-11, Vol.30 (11), p.966-967 [Peer Reviewed Journal]1994 INIST-CNRS ;Copyright BMJ Publishing Group LTD Nov 1993 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.30.11.966 ;PMID: 8301657 ;CODEN: JMDGAEFull text available |
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10 |
Material Type: Article
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Fertility in 47,XXX and 45,X patientsJournal of medical genetics, 1978-04, Vol.15 (2), p.132-135 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Apr 1978 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.15.2.132 ;PMID: 641947 ;CODEN: JMDGAEFull text available |
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11 |
Material Type: Article
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47,XXX chromosome constitution in a maleJournal of medical genetics, 1980-02, Vol.17 (1), p.62-66 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Feb 1980 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.17.1.62 ;PMID: 7189218 ;CODEN: JMDGAEFull text available |
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12 |
Material Type: Article
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Diplospermy II indicated as the origin of a liveborn human triploid (69,XXX)Journal of medical genetics, 1981-10, Vol.18 (5), p.386-389 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Oct 1981 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.18.5.386 ;PMID: 6948962 ;CODEN: JMDGAEFull text available |
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13 |
Material Type: Article
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Prenatal diagnosis and gonadal findings in X/XXX mosaicismJournal of medical genetics, 1977-04, Vol.14 (2), p.120-123 [Peer Reviewed Journal]Copyright BMJ Publishing Group LTD Apr 1977 ;ISSN: 0022-2593 ;ISSN: 1468-6244 ;EISSN: 1468-6244 ;DOI: 10.1136/jmg.14.2.120 ;PMID: 856232 ;CODEN: JMDGAEFull text available |
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14 |
Material Type: Article
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Prenatal monitoring and genetic counseling in a 47, XXX female with the oro-facial digital syndrome-type 1American journal of human genetics, 1981-07, Vol.33 (4), p.649-650 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 7258190Full text available |
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15 |
Material Type: Article
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Divergent phenotypes among 48,XXXX and 47,XXX femalesAmerican journal of human genetics, 1970-05, Vol.22 (3), p.326-335 [Peer Reviewed Journal]ISSN: 0002-9297 ;EISSN: 1537-6605 ;PMID: 4392739Full text available |
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16 |
Material Type: Article
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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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17 |
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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18 |
Material Type: Article
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Epigenetics in Turner syndromeClinical epigenetics, 2018-04, Vol.10 (1), p.45-45, Article 45 [Peer Reviewed Journal]COPYRIGHT 2018 BioMed Central Ltd. ;The Author(s). 2018 ;ISSN: 1868-7075 ;EISSN: 1868-7083 ;DOI: 10.1186/s13148-018-0477-0 ;PMID: 29636833Full text available |
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19 |
Material Type: Article
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Abnormal X: autosome ratio, but normal X chromosome inactivation in human triploid culturesBMC genetics, 2006-07, Vol.7 (1), p.41-41, Article 41 [Peer Reviewed Journal]Copyright © 2006 Gartler et al; licensee BioMed Central Ltd. 2006 Gartler et al; licensee BioMed Central Ltd. ;ISSN: 1471-2156 ;EISSN: 1471-2156 ;DOI: 10.1186/1471-2156-7-41 ;PMID: 16817970Full text available |
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20 |
Material Type: Article
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Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.930-934 [Peer Reviewed Journal]Copyright Nature Publishing Group Aug 2017 ;Copyright © 2017 Macmillan Publishers Limited, part of Springer Nature. 2017 Macmillan Publishers Limited, part of Springer Nature. ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2017.93 ;PMID: 28612834Full text available |