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1
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study
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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 study

Orphanet 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: 30642344

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2
Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)
Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)
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Everyday executive functions in Down syndrome from early childhood to young adulthood: evidence for both unique and shared characteristics compared to youth with sex chromosome trisomy (XXX and XXY)

Frontiers in behavioral neuroscience, 2015-10, Vol.9, p.264-264 [Peer Reviewed Journal]

COPYRIGHT 2015 Frontiers Research Foundation ;2015. 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. ;Copyright © 2015 Lee, Anand, Will, Adeyemi, Clasen, Blumenthal, Giedd, Daunhauer, Fidler and Edgin. 2015 Lee, Anand, Will, Adeyemi, Clasen, Blumenthal, Giedd, Daunhauer, Fidler and Edgin ;ISSN: 1662-5153 ;EISSN: 1662-5153 ;DOI: 10.3389/fnbeh.2015.00264 ;PMID: 26539087

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3
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study
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The impact of sex chromosome trisomies (XXX, XXY, XYY) on gaze towards faces and affect recognition: a cross-sectional eye tracking study

Journal of neurodevelopmental disorders, 2022-08, Vol.14 (1), p.44-44, Article 44 [Peer Reviewed Journal]

2022. The Author(s). ;COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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) 2022 ;ISSN: 1866-1947 ;EISSN: 1866-1955 ;DOI: 10.1186/s11689-022-09453-x ;PMID: 35918661

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4
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literature

Molecular 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: 31070017

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5
45,X/47,XXX Mosaicism and Short Stature
45,X/47,XXX Mosaicism and Short Stature
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45,X/47,XXX Mosaicism and Short Stature

Case reports in pediatrics, 2015-01, Vol.2015, p.263253-3 [Peer Reviewed Journal]

Copyright © 2015 Erica Everest et al. ;Copyright © 2015 Erica Everest et al. Erica Everest et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ;Copyright © 2015 Erica Everest et al. 2015 ;ISSN: 2090-6803 ;EISSN: 2090-6811 ;DOI: 10.1155/2015/263253 ;PMID: 26137340

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6
Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports
Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports
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Patients with 47, XXX karyotype who experienced premature ovarian failure (POF): two case reports

Reproductive medicine and biology, 2013-10, Vol.12 (4), p.193-195 [Peer Reviewed Journal]

Japan Society for Reproductive Medicine 2013 ;The Japan Society for Reproductive Medicine ;Copyright John Wiley & Sons, Inc. Oct 2013 ;ISSN: 1445-5781 ;EISSN: 1447-0578 ;DOI: 10.1007/s12522-013-0158-9 ;PMID: 29699146

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7
Prenatal diagnosis and gonadal findings in X/XXX mosaicism
Prenatal diagnosis and gonadal findings in X/XXX mosaicism
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Prenatal diagnosis and gonadal findings in X/XXX mosaicism

Journal 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: JMDGAE

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8
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population
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Incidence of X and Y Chromosomal Aneuploidy in a Large Child Bearing Population

PloS one, 2016-08, Vol.11 (8), p.e0161045-e0161045 [Peer Reviewed Journal]

COPYRIGHT 2016 Public Library of Science ;COPYRIGHT 2016 Public Library of Science ;2016 Samango-Sprouse et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;2016 Samango-Sprouse et al 2016 Samango-Sprouse et al ;ISSN: 1932-6203 ;EISSN: 1932-6203 ;DOI: 10.1371/journal.pone.0161045 ;PMID: 27512996

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9
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
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Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1122-n/a [Peer Reviewed Journal]

2020 The Authors. published by Wiley Periodicals, Inc. ;2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. ;2020. This work is published 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. ;ISSN: 2324-9269 ;EISSN: 2324-9269 ;DOI: 10.1002/mgg3.1122 ;PMID: 31943886

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10
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China
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The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China

Molecular cytogenetics, 2021-05, Vol.14 (1), p.25-25, Article 25 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. 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) 2021 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-021-00545-2 ;PMID: 33971935

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11
The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes
The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes
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The use of oocyte cryopreservation for fertility preservation in patients with sex chromosome disorders: a case series describing outcomes

Journal 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: 35320443

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12
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies
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The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

Molecular cytogenetics, 2018-12, Vol.11 (1), p.59-59, Article 59 [Peer Reviewed Journal]

COPYRIGHT 2018 BioMed Central Ltd. ;Copyright © 2018. 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). 2018 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-018-0407-z ;PMID: 30524505

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13
What should we focus on before preimplantation genetic diagnosis/screening?
What should we focus on before preimplantation genetic diagnosis/screening?
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What should we focus on before preimplantation genetic diagnosis/screening?

Archives of medical science, 2018-08, Vol.14 (5), p.1119-1124 [Peer Reviewed Journal]

2018. This work is published under http://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright: © 2018 Termedia & Banach 2018 ;ISSN: 1734-1922 ;EISSN: 1896-9151 ;DOI: 10.5114/aoms.2018.72790 ;PMID: 30154896

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14
A study on chromosomal analysis of patients with primary amenorrhea
A study on chromosomal analysis of patients with primary amenorrhea
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A study on chromosomal analysis of patients with primary amenorrhea

Journal of human reproductive sciences, 2019-01, Vol.12 (1), p.29-34 [Peer Reviewed Journal]

COPYRIGHT 2019 Medknow Publications and Media Pvt. Ltd. ;2019. This work is published under https://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. ;Copyright: © 2019 Journal of Human Reproductive Sciences 2019 ;ISSN: 0974-1208 ;EISSN: 1998-4766 ;DOI: 10.4103/jhrs.JHRS_125_17 ;PMID: 31007464

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15
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review
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Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review

Molecular cytogenetics, 2022-07, Vol.15 (1), p.1-29, Article 29 [Peer Reviewed Journal]

COPYRIGHT 2022 BioMed Central Ltd. ;2022. 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) 2022 ;ISSN: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-022-00607-z ;PMID: 35794576

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16
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications
Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications
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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implications

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1833-n/a [Peer Reviewed Journal]

2021 The Authors. published by Wiley Periodicals LLC. ;2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC. ;2021. 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/mgg3.1833 ;PMID: 34738344

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17
Triple X syndrome: a review of the literature
Triple X syndrome: a review of the literature
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Triple X syndrome: a review of the literature

European journal of human genetics : EJHG, 2010-03, Vol.18 (3), p.265-271 [Peer Reviewed Journal]

2015 INIST-CNRS ;Copyright Nature Publishing Group Mar 2010 ;Copyright © 2010 Macmillan Publishers Limited 2010 Macmillan Publishers Limited ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/ejhg.2009.109 ;PMID: 19568271

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18
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases
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Expanded noninvasive prenatal testing for fetal aneuploidy and copy number variations and parental willingness for invasive diagnosis in a cohort of 18,516 cases

BMC medical genomics, 2021-04, Vol.14 (1), p.106-106, Article 106 [Peer Reviewed Journal]

COPYRIGHT 2021 BioMed Central Ltd. ;2021. 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) 2021 ;ISSN: 1755-8794 ;EISSN: 1755-8794 ;DOI: 10.1186/s12920-021-00955-6 ;PMID: 33853619

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19
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan
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Spectrum of external genital anomalies in disorders of Sex Development at Children Hospital & Institute of Child Health, Lahore, Pakistan

Pakistan journal of medical sciences, 2021-02, Vol.37 (1), p.244-249 [Peer Reviewed Journal]

Copyright: © Pakistan Journal of Medical Sciences. ;COPYRIGHT 2021 Knowledge Bylanes ;COPYRIGHT 2021 Knowledge Bylanes ;(c)2021 Pakistan Journal of Medical Sciences ;Copyright: © Pakistan Journal of Medical Sciences 2021 ;ISSN: 1682-024X ;EISSN: 1681-715X ;DOI: 10.12669/pjms.37.1.2991 ;PMID: 33437285

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20
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test
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Non-invasive prenatal testing of fetal chromosomal aneuploidies: validation and clinical performance of the veracity test

Molecular cytogenetics, 2019-07, Vol.12 (1), p.34-34, Article 34 [Peer Reviewed Journal]

COPYRIGHT 2019 BioMed Central Ltd. ;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: 1755-8166 ;EISSN: 1755-8166 ;DOI: 10.1186/s13039-019-0446-0 ;PMID: 31338126

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