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Material Type: Artigo
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A review of trisomy X (47,XXX)Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, LennieOrphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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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 studyBerglund, Agnethe ; Viuff, Mette Hansen ; Skakkebæk, Anne ; Chang, Simon ; Stochholm, Kirstine ; Gravholt, Claus HøjbjergOrphanet journal of rare diseases, 2019-01, Vol.14 (1), p.16-16, Article 16 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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3 |
Material Type: Artigo
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Detection of sex chromosome abnormalities by nuchal translucency screening at 10-14 weeksSebire, N. J. ; Snijders, R. J. M. ; Brown, R. ; Southall, T. ; Nicolaides, K. H.Prenatal diagnosis, 1998-06, Vol.18 (6), p.581-584 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999Forrester, Mathias B. ; Merz, Ruth D.American journal of medical genetics, 2003-06, Vol.119A (3), p.305-310 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Maternal sex chromosome non-disjunction : evidence for X chromosome-specific risk factorsTHOMAS, N. Simon ; ENNIS, Sarah ; SHARP, Andrew J ; DURKIE, Miranda ; HASSOLD, Terry J ; COLLINS, Andrew R ; JACOBS, Patricia AHuman molecular genetics, 2001-02, Vol.10 (3), p.243-250 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over timeChristian, S. M. ; Koehn, D. ; Pillay, R. ; MacDougall, A. ; Wilson, R. D.Prenatal diagnosis, 2000-01, Vol.20 (1), p.37-40 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypesHOOK, E. B ; TOPOL, B. B ; CROSS, P. KAmerican journal of human genetics, 1989-12, Vol.45 (6), p.855-861 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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Material Type: Artigo
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ESTABLISHMENT AND APPLICATION OF A NORMAL RANGE FOR NUCHAL TRANSLUCENCY ACROSS THE FIRST TRIMESTERSCOTT, FERGUS ; BOOGERT, ANTHEUNIS ; SINOSICH, MICHAEL ; ANDERSON, JOHNPrenatal diagnosis, 1996-07, Vol.16 (7), p.629-634 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromesLiang, Desheng ; Cram, David S. ; Tan, Hu ; Linpeng, Siyuan ; Liu, Yingdi ; Sun, Huaiyu ; Zhang, Yu ; Tian, Feng ; Zhu, Hongmin ; Xu, Mengnan ; Wang, Hua ; Yu, Fuli ; Wu, LingqianGenetics in medicine, 2019-09, Vol.21 (9), p.1998-2006 [Periódico revisado por pares]United States: Elsevier IncSem texto completo |
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Material Type: Artigo
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Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticismLuciano, Michelle ; Hagenaars, Saskia P ; Davies, Gail ; Hill, W David ; Clarke, Toni-Kim ; Shirali, Masoud ; Harris, Sarah E ; Marioni, Riccardo E ; Liewald, David C ; Fawns-Ritchie, Chloe ; Adams, Mark J ; Howard, David M ; Lewis, Cathryn M ; Gale, Catharine R ; McIntosh, Andrew M ; Deary, Ian JNature genetics, 2018-01, Vol.50 (1), p.6-11 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |