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Journal Abstract Search

527 related items for PubMed ID: 30127341

  • 1. Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.
    Green T, Flash S, Reiss AL.
    Neuropsychopharmacology; 2019 Jan; 44(1):9-21. PubMed ID: 30127341
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  • 2. Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndrome.
    Viuff MH, Stochholm K, Uldbjerg N, Nielsen BB, Danish Fetal Medicine Study Group, Gravholt CH.
    Hum Reprod; 2015 Oct; 30(10):2419-26. PubMed ID: 26251461
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  • 4. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study.
    Berglund A, Viuff MH, Skakkebæk A, Chang S, Stochholm K, Gravholt CH.
    Orphanet J Rare Dis; 2019 Jan 14; 14(1):16. PubMed ID: 30642344
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  • 5. Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal blood.
    Zhang B, Lu BY, Yu B, Zheng FX, Zhou Q, Chen YP, Zhang XQ.
    J Int Med Res; 2017 Apr 14; 45(2):621-630. PubMed ID: 28357876
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  • 8. Clinical experience regarding the accuracy of NIPT in the detection of sex chromosome abnormality.
    Zheng Y, Wan S, Dang Y, Song T, Chen B, Zhang J.
    J Gene Med; 2020 Aug 14; 22(8):e3199. PubMed ID: 32267591
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  • 9. Early neurodevelopmental and medical profile in children with sex chromosome trisomies: Background for the prospective eXtraordinarY babies study to identify early risk factors and targets for intervention.
    Tartaglia N, Howell S, Davis S, Kowal K, Tanda T, Brown M, Boada C, Alston A, Crawford L, Thompson T, van Rijn S, Wilson R, Janusz J, Ross J.
    Am J Med Genet C Semin Med Genet; 2020 Jun 14; 184(2):428-443. PubMed ID: 32506668
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  • 10. Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratory.
    Petersen AK, Cheung SW, Smith JL, Bi W, Ward PA, Peacock S, Braxton A, Van Den Veyver IB, Breman AM.
    Am J Obstet Gynecol; 2017 Dec 14; 217(6):691.e1-691.e6. PubMed ID: 29032050
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  • 12. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
    Oetjens MT, Kelly MA, Sturm AC, Martin CL, Ledbetter DH.
    Nat Commun; 2019 Oct 25; 10(1):4897. PubMed ID: 31653860
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  • 14. Social deficits in male children and adolescents with sex chromosome aneuploidy: a comparison of XXY, XYY, and XXYY syndromes.
    Cordeiro L, Tartaglia N, Roeltgen D, Ross J.
    Res Dev Disabil; 2012 Oct 25; 33(4):1254-63. PubMed ID: 22502852
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  • 15. Sex chromosomes and the brain: a study of neuroanatomy in XYY syndrome.
    Bryant DM, Hoeft F, Lai S, Lackey J, Roeltgen D, Ross J, Reiss AL.
    Dev Med Child Neurol; 2012 Dec 25; 54(12):1149-56. PubMed ID: 23057627
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  • 17. X- vs. Y-chromosome influences on human behavior: a deep phenotypic comparison of psychopathology in XXY and XYY syndromes.
    Schaffer L, Rau S, Larsen IG, Clasen L, Warling A, Whitman ET, Nadig A, McDermott C, Xenophontos A, Wilson K, Blumenthal J, Torres E, Raznahan A.
    J Neurodev Disord; 2024 Oct 03; 16(1):56. PubMed ID: 39363182
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  • 18. Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome-A comparison with Turner syndrome and 46,XX females.
    Nielsen MM, Trolle C, Vang S, Hornshøj H, Skakkebaek A, Hedegaard J, Nordentoft I, Pedersen JS, Gravholt CH.
    Am J Med Genet C Semin Med Genet; 2020 Jun 03; 184(2):279-293. PubMed ID: 32489015
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  • 19. Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes.
    Hong DS, Hoeft F, Marzelli MJ, Lepage JF, Roeltgen D, Ross J, Reiss AL.
    J Neurosci; 2014 Mar 05; 34(10):3509-16. PubMed ID: 24599451
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  • 20. Usefulness of methylation-specific multiplex ligation-dependent probe amplification for identification of parental origin of triploidy.
    Massalska D, Ozdarska K, Bijok J, Roszkowski T, Kucińska-Chahwan A, Jakiel G, Panek GM, Zimowski JG.
    J Hum Genet; 2020 Oct 05; 65(10):889-894. PubMed ID: 32483273
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