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Material Type: Artigo
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Resting-state functional connectivity in adults with 47,XXX: a 7 Tesla MRI studySerrarens, Chaira ; Kashyap, Sriranga ; Riveiro-Lago, Laura ; Otter, Maarten ; Campforts, Bea C M ; Stumpel, Constance T R M ; Jansma, Henk ; Linden, David E J ; van Amelsvoort, Thérèse A M J ; Vingerhoets, ClaudiaCerebral cortex (New York, N.Y. 1991), 2023-04, Vol.33 (9), p.5210-5217 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Positive predictive value estimates for cell-free noninvasive prenatal screening from data of a large referral genetic diagnostic laboratoryPetersen, Andrea K. ; Cheung, Sau Wai ; Smith, Janice L. ; Bi, Weimin ; Ward, Patricia A. ; Peacock, Sandra ; Braxton, Alicia ; Van Den Veyver, Ignatia B. ; Breman, Amy M.American journal of obstetrics and gynecology, 2017-12, Vol.217 (6), p.691.e1-691.e6 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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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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Perinatal detection of disomy X cell line by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy in various tissues and a favorable outcomeChen, Chih-Ping ; Wu, Fang-Tzu ; Pan, Yen-Ting ; Wu, Peih-Shan ; Chen, Wen-Lin ; Lee, Meng-Shan ; Wang, WayseenTaiwanese journal of obstetrics & gynecology, 2023-11, Vol.62 (6), p.906-909 [Periódico revisado por pares]ElsevierTexto completo disponível |
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Material Type: Artigo
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45,X/46,XX at the first amniocentesis, and 45,X/47,XXX/46,XX at the repeat amniocentesis and at birth in a pregnancy associated with a favorable fetal outcome, perinatal progressive decrease of the 45,X cell line and cytogenetic discrepancy between cultured amniocytes and uncultured amniocytesChen, Chih-Ping ; Wu, Fang-Tzu ; Pan, Yen-Ting ; Wu, Peih-Shan ; Chen, Wen-Lin ; Lee, Meng-Shan ; Wang, WayseenTaiwanese journal of obstetrics & gynecology, 2023-11, Vol.62 (6), p.901-905 [Periódico revisado por pares]ElsevierTexto completo disponível |
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Material Type: Artigo
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Incidence of sex chromosome aneuploidy in a prenatal population: 27‐year longitudinal study in Northern ItalySamango‐Sprouse, C. A. ; Grati, F. R. ; Brooks, M. ; Hamzik, M. P. ; Khaksari, K. ; Gropman, A. ; Taylor, A. ; Malvestiti, F. ; Grimi, B. ; Liuti, R. ; Milani, S. ; Chinetti, S. ; Trotta, A. ; Agrati, C. ; Repetti, E. ; Martin, K. A.Ultrasound in obstetrics & gynecology, 2023-08, Vol.62 (2), p.266-272 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisWigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, NicoleAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
8 |
Material Type: Artigo
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Triple X supergirls: Their special educational needs and social experienceAttfield, KateInternational journal of educational research, 2020, Vol.102, p.101588, Article 101588 [Periódico revisado por pares]Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Altered subcortical and cortical brain morphology in adult women with 47,XXX: a 7-Tesla magnetic resonance imaging studySerrarens, Chaira ; Otter, Maarten ; Campforts, Bea C M ; Stumpel, Constance T R M ; Jansma, Henk ; van Amelsvoort, Thérèse A M J ; Vingerhoets, ClaudiaJournal of neurodevelopmental disorders, 2022-02, Vol.14 (1), p.14-14, Article 14 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
10 |
Material Type: Artigo
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Detection of maternal X chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testingMartin, Kimberly A ; Samango-Sprouse, Carole A ; Kantor, Valerie ; Dhamankar, Rupin ; Valenti, Elizabeth ; Trefogli, Maria Teresa ; Balosbalos, Irish ; Lagrave, Danielle ; Lyons, Daniel ; Kao, Charlly ; Hakonarson, Hakon ; Billings, Paul RAmerican journal of obstetrics & gynecology MFM, 2020-08, Vol.2 (3), p.100152-100152, Article 100152 [Periódico revisado por pares]United StatesTexto completo disponível |