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    Results: 1 to 20 of 95

    1.

    Noninvasive Fetal Trisomy (NIFTY) test: an advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies.

    Jiang F, Ren J, Chen F, Zhou Y, Xie J, Dan S, Su Y, Xie J, Yin B, Su W, Zhang H, Wang W, Chai X, Lin L, Guo H, Li Q, Li P, Yuan Y, Pan X, Li Y, Liu L, Chen H, Xuan Z, Chen S, Zhang C, Zhang H, Tian Z, Zhang Z, Jiang H, Zhao L, Zheng W, Li S, Li Y, Wang J, Wang J, Zhang X.

    BMC Med Genomics. 2012 Dec 1;5:57. doi: 10.1186/1755-8794-5-57.

    PMID:
    23198897
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    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;54(12):1149-56. doi: 10.1111/j.1469-8749.2012.04418.x. Epub 2012 Oct 12.

    PMID:
    23057627
    [PubMed - indexed for MEDLINE]
    3.

    Early manifestations in a cohort of children prenatally diagnosed with 47,XYY. Role of multidisciplinary counseling for parental guidance and prevention of aggressive behavior.

    Lalatta F, Folliero E, Cavallari U, Di Segni M, Gentilin B, Fogliani R, Quagliarini D, Vizziello P, Monti F, Gargantini L.

    Ital J Pediatr. 2012 Oct 3;38:52. doi: 10.1186/1824-7288-38-52.

    PMID:
    23034220
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Socio-economic factors affect mortality in 47,XYY syndrome-A comparison with the background population and Klinefelter syndrome.

    Stochholm K, Juul S, Gravholt CH.

    Am J Med Genet A. 2012 Oct;158A(10):2421-9. doi: 10.1002/ajmg.a.35539. Epub 2012 Aug 14.

    PMID:
    22893477
    [PubMed - indexed for MEDLINE]
    5.

    Excellence, deviance, and gender: lessons from the XYY episode.

    Shani R, Barilan YM.

    Am J Bioeth. 2012;12(7):27-30. doi: 10.1080/15265161.2012.681338. No abstract available.

    PMID:
    22694029
    [PubMed - indexed for MEDLINE]
    6.

    Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.

    Shen Z, Zou CC, Shang SQ, Jiang KW.

    Intern Med. 2012;51(11):1371-4. Epub 2012 Jun 1. Review.

    PMID:
    22687844
    [PubMed - indexed for MEDLINE]
    Free Article
    7.

    The clinical and genetic heterogeneity of mixed gonadal dysgenesis: does "disorders of sexual development (DSD)" classification based on new Chicago consensus cover all sex chromosome DSD?

    Ocal G, Berberoğlu M, Sıklar Z, Ruhi HI, Tükün A, Camtosun E, Savaş Erdeve S, Hacıhamdioğlu B, Fitöz S.

    Eur J Pediatr. 2012 Oct;171(10):1497-502. Epub 2012 May 30.

    PMID:
    22644991
    [PubMed - indexed for MEDLINE]
    8.

    Chromosomal abnormalities in men with pregestational and gestational infertility in northeast China.

    Li D, Zhang H, Wang R, Zhu H, Li L, Liu R.

    J Assist Reprod Genet. 2012 Aug;29(8):829-36. doi: 10.1007/s10815-012-9783-1. Epub 2012 May 12.

    PMID:
    22581431
    [PubMed - indexed for MEDLINE]
    9.

    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 Jul-Aug;33(4):1254-63. doi: 10.1016/j.ridd.2012.02.013. Epub 2012 Mar 23.

    PMID:
    22502852
    [PubMed - indexed for MEDLINE]
    10.

    Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome.

    Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N.

    Pediatrics. 2012 Apr;129(4):769-78. doi: 10.1542/peds.2011-0719. Epub 2012 Mar 12.

    PMID:
    22412026
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    11.

    Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing.

    Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP; MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group.

    Obstet Gynecol. 2012 May;119(5):890-901. doi: 10.1097/AOG.0b013e31824fb482. Erratum in: Obstet Gynecol. 2012 Oct;120(4):957.

    PMID:
    22362253
    [PubMed - indexed for MEDLINE]
    12.

    Attention-deficit hyperactivity disorder symptoms in children and adolescents with sex chromosome aneuploidy: XXY, XXX, XYY, and XXYY.

    Tartaglia NR, Ayari N, Hutaff-Lee C, Boada R.

    J Dev Behav Pediatr. 2012 May;33(4):309-18. doi: 10.1097/DBP.0b013e31824501c8.

    PMID:
    22333574
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    13.

    Diagnostic challenges of Marfan syndrome in an XYY young man.

    Lebreiro A, Martins E, Machado JC, Abreu-Lima C.

    Cardiol Young. 2012 Aug;22(4):466-8. doi: 10.1017/S1047951111001776. Epub 2011 Nov 4.

    PMID:
    22050831
    [PubMed - indexed for MEDLINE]
    14.

    Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: the Mayo Clinic experience.

    Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL.

    J Assist Reprod Genet. 2011 Nov;28(11):1091-8. doi: 10.1007/s10815-011-9633-6. Epub 2011 Sep 13.

    PMID:
    21912980
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    15.

    Nonmosaic 47,XYY syndrome presenting with male infertility: case series.

    Abdel-Razic MM, Abdel-Hamid IA, ElSobky ES.

    Andrologia. 2012 Jun;44(3):200-4. doi: 10.1111/j.1439-0272.2010.01129.x. Epub 2011 Jun 15.

    PMID:
    21671976
    [PubMed - indexed for MEDLINE]
    16.

    Klinefelter syndrome as a window on the aetiology of language and communication impairments in children: the neuroligin-neurexin hypothesis.

    Bishop DV, Scerif G.

    Acta Paediatr. 2011 Jun;100(6):903-7. doi: 10.1111/j.1651-2227.2011.02150.x. Epub 2011 Mar 21.

    PMID:
    21418292
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    17.

    A man with 47,XYY karyotype, prolactinoma and a history of first trimester recurrent miscarriages in his wife.

    Zouli C, Tsametis C, Papadimas I, Goulis DG.

    Hormones (Athens). 2011 Jan-Mar;10(1):72-5.

    PMID:
    21349809
    [PubMed - indexed for MEDLINE]
    Free Article
    18.

    Aneuploidy in human spermatozoa.

    Templado C, Vidal F, Estop A.

    Cytogenet Genome Res. 2011;133(2-4):91-9. doi: 10.1159/000323795. Epub 2011 Jan 29. Review.

    PMID:
    21282942
    [PubMed - indexed for MEDLINE]
    19.

    Which neurodevelopmental disorders get researched and why?

    Bishop DV.

    PLoS One. 2010 Nov 30;5(11):e15112. doi: 10.1371/journal.pone.0015112.

    PMID:
    21152085
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    20.

    Association between venous leg ulcers and sex chromosome anomalies in men.

    Gattringer C, Scheurecker C, Höpfl R, Müller H.

    Acta Derm Venereol. 2010 Nov;90(6):612-5. doi: 10.2340/00015555-0949.

    PMID:
    21057745
    [PubMed - indexed for MEDLINE]
    Free Article

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