Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
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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2 |
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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A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysisCieslak, Jakub ; Mackowski, Mariusz ; Skrzetuska, Weronika ; Fidos-Tama, Ewa ; Siwinska, Natalia ; Szczerbal, IzabelaJournal of applied genetics, 2024-05, Vol.65 (2), p.395-398 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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4 |
Material Type: Artigo
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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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5 |
Material Type: Artigo
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Detection of Cryptic Fragile X Full Mutation Alleles by Southern Blot in a Female and Her Foetal DNA via Chorionic Villus Sampling, Complicated by Mosaicism for 45,X0/46,XX/47,XXXPandelache, Alison ; Francis, David ; Oertel, Ralph ; Dickson, Rebecca ; Sachdev, Rani ; Ling, Ling ; Gamage, Dinusha ; Godler, David E.Genes, 2021-06, Vol.12 (6), p.798 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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6 |
Material Type: Artigo
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Ovarian reserve evaluation in a woman with 45,X/47,XXX mosaicism: A case report and a review of literatureTang, Ruiyi ; Lin, Lin ; Guo, Zaixin ; Hou, Haiyan ; Yu, QiMolecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00732-n/a [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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7 |
Material Type: Artigo
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Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndromeSybert, V PJournal of medical genetics, 2002-03, Vol.39 (3), p.217-221 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Double trisomy with 48, XXX+21 karyotype in a Down’s syndrome child from Jammu and Kashmir, IndiaBalwan, Wahied Khawar ; Kumar, Parvinder ; Raina, T. R. ; Gupta, SubashJournal of genetics, 2008-12, Vol.87 (3), p.257-259 [Periódico revisado por pares]India: Springer-VerlagTexto completo disponível |
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9 |
Material Type: Artigo
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Second polar body incorporation into a blastomere results in 46,XX/69,XXX mixoploidyMüller, U ; Weber, J L ; Berry, P ; Kupke, K GJournal of medical genetics, 1993-07, Vol.30 (7), p.597-600 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Karyotype 69,XXX/47,XX,+15 in a 2 1/2 year old childDean, J ; Cohen, G ; Kemp, J ; Robson, L ; Tembe, V ; Hasselaar, J ; Webster, B ; Lammi, A ; Smith, AJournal of medical genetics, 1997-03, Vol.34 (3), p.246-249 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |