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A rare case of NIPT discrepancy caused by the placental mosaicism of three different karyotypes, 47,XXX, 47,XX,+21, and 48,XXX,+21Li, Jin ; Xie, Mingshui ; Wang, Fang ; Ma, Jianhong ; Li, Jiafu ; Chen, Chen ; Li, Zhimin ; Wang, Juan ; Zhang, Yuanzhen ; Li, YirongMolecular genetics & genomic medicine, 2020-08, Vol.8 (8), p.e1279-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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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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Systemic lupus erythematosus in a multiethnic US Cohort (LUMINA). XXX: association between C-reactive protein (CRP) gene polymorphisms and vascular eventsSzalai, A. J. ; Alarcón, G. S. ; Calvo-Alén, J. ; Toloza, S. M. A. ; McCrory, M. A. ; Edberg, J. C. ; McGwin, G. ; Bastian, H. M. ; Fessler, B. J. ; Vilá, L. M. ; Kimberly, R. P. ; Reveille, J. D.Rheumatology (Oxford, England), 2005-07, Vol.44 (7), p.864-868 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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47,XXX associated with malformationsHaverty, Carrie E. ; Lin, Angela E. ; Simpson, Ellen ; Spence, M. Anne ; Martin, Rick A.American journal of medical genetics, 2004-02, Vol.125A (1), p.108-111 [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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Root length in the permanent teeth of women with an additional X chromosome (47,XXX females)Lähdesmäki, Raija E. ; Alvesalo, Lassi J.Acta odontologica Scandinavica, 2010-07, Vol.68 (4), p.223-227 [Periódico revisado por pares]England: Taylor & FrancisTexto completo disponível |
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The epidemiology of sex chromosome abnormalitiesBerglund, Agnethe ; Stochholm, Kirstine ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.202-215Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Intestinal Atresia, Encephalocele, and Cardiac Malformations in Infants with 47,XXX: Expansion of the Phenotypic Spectrum and a Review of the LiteratureBağci, Soyhan ; Müller, Andreas ; Franz, Axel ; Heydweiller, Andreas ; Berg, Christoph ; Nöthen, Markus M. ; Bartmann, Peter ; Reutter, HeikoFetal diagnosis and therapy, 2010-03, Vol.27 (2), p.113-117 [Periódico revisado por pares]Basel, Switzerland: KargerTexto completo disponível |
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Material Type: Artigo
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Turner syndrome phenotype with 47,XXX karyotype: Further investigation warranted?Wallerstein, Robert ; Musen, Erica ; McCarrier, Julie ; Aisenberg, Javier ; Chartoff, Amy ; Hutcheon, R. Gordon ; Tepperberg, James ; Pappenhausen, Peter ; Griffin, SharonAmerican journal of medical genetics, 2004-02, Vol.125A (1), p.106-107 [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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Rett syndrome in a 47,XXX patient with a de novo MECP2 mutationHammer, Sara ; Dorrani, Naghmeh ; Hartiala, Jaana ; Stein, Stuart ; Schanen, N. CarolynAmerican journal of medical genetics, 2003-10, Vol.122A (3), p.223-226 [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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Prenatal diagnosis of fetal hydrops associated with Down's syndrome in a 40‐year‐old woman with a mosaic Turner's karyotype (45,X/47,XXX)Acharya, Ganesh ; Jonsrud, Chistoffer ; Van Der Hagen, CarlBirger ; Maltau, Jan MartinActa obstetricia et gynecologica Scandinavica, 2003-08, Vol.82 (8), p.773-774 [Periódico revisado por pares]Oxford, UK: Munksgaard International PublishersTexto completo disponível |