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1 |
Material Type: Artigo
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The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; Rijn, SophieAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.444-455Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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2 |
Material Type: Artigo
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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX femalesNielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Skakkebæk, Anne ; Hedegaard, Jakob ; Nordentoft, Iver ; Pedersen, Jakob Skou ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.279-293Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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3 |
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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4 |
Material Type: Artigo
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The origin of 47, XXY and 47, XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombinationMacDonald, M. ; Hassold, T. ; Harvey, J. ; Wang, L.H. ; Morton, N.E. ; Jacobs, P.Human molecular genetics, 1994-08, Vol.3 (8), p.1365-1371 [Periódico revisado por pares]Oxford: Oxford University PressSem texto completo |
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5 |
Material Type: Artigo
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Long-term survival in a 69,XXX triploid premature infantTakabachi, Noriko ; Nishimaki, Shigeru ; Omae, Mari ; Okuda, Mika ; Fujita, Shujiro ; Ishida, Fumihiko ; Horiguchi, Haruko ; Seki, Kazuo ; Takahashi, Tsuneo ; Yokota, ShumpeiAmerican journal of medical genetics. Part A, 2008-06, Vol.146A (12), p.1618-1621 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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6 |
Material Type: Artigo
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Reduced size of the amygdala in individuals with 47,XXY and 47,XXX karyotypesPatwardhan, Anil J. ; Brown, Wendy E. ; Bender, Bruce G. ; Linden, Mary G. ; Eliez, Stephan ; Reiss, Allan L.American journal of medical genetics, 2002-01, Vol.114 (1), p.93-98 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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7 |
Material Type: Artigo
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A review of neurocognitive functioning of children with sex chromosome trisomies: Identifying targets for early interventionUrbanus, Evelien ; Rijn, Sophie ; Swaab, HannaClinical genetics, 2020-01, Vol.97 (1), p.156-167 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Reduced recombination in maternal meiosis coupled with non-disjunction at meiosis II leading to recurrent 47,XXXReish, Orit ; Berryman, Todd ; Cunningham, Thomas R ; Sher, Carron ; Oetting, William SChromosome research, 2004-01, Vol.12 (2), p.125-132 [Periódico revisado por pares]Netherlands: Springer Nature B.VTexto completo disponível |
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9 |
Material Type: Artigo
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Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+18Chen, Chih‐Ping ; Chern, Schu‐Rern ; Yeh, Li‐Fan ; Chen, Wen‐Lin ; Chen, Li‐Feng ; Wang, WayseenPrenatal diagnosis, 2000-09, Vol.20 (9), p.750-753 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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10 |
Material Type: Artigo
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The parental origin of the extra X chromosome in 47,XXX femalesMAY, K. M ; JACOBS, P. A ; LEE, M ; RATCLIFFE, S ; ROBINSON, A ; NIELSEN, J ; HASSOLD, T. JAmerican journal of human genetics, 1990-04, Vol.46 (4), p.754-761 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |