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Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre studyGruchy, Nicolas ; Blondeel, Eleonore ; Le Meur, Nathalie ; Joly-Hélas, Géraldine ; Chambon, Pascal ; Till, Marianne ; Herbaux, Martine ; Vigouroux-Castera, Adeline ; Coussement, Aurélie ; Lespinasse, James ; Amblard, Florence ; Jimenez Pocquet, Mélanie ; Lebel-Roy, Camille ; Carré-Pigeon, Frédérique ; Flori, Elisabeth ; Mugneret, Francine ; Jaillard, Sylvie ; Yardin, Catherine ; Harbuz, Radu ; Collonge-Rame, Marie-Agnès ; Vago, Philippe ; Valduga, Mylène ; Leporrier, Nathalie ; Vialard, FrançoisPrenatal diagnosis, 2016-06, Vol.36 (6), p.523-529 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Double trisomy 48,XXX,+18 in association with increased nuchal translucency; two casesvan Huizen, M. E. ; Knegt, A. C. ; Bijlsma, E. K. ; Bilardo, C. M.Prenatal diagnosis, 2004-12, Vol.24 (12), p.1020-1021 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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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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Serum screening in complete triploidy 69,XXXDormeier, A ; Küffer, E ; Schurz, B ; Egarter, CPrenatal diagnosis, 1996-06, Vol.16 (6), p.578 [Periódico revisado por pares]EnglandTexto completo disponível |
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Material Type: Artigo
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A systematic review and meta‐analysis of cell‐free DNA testing for detection of fetal sex chromosome aneuploidyShear, Matthew A. ; Swanson, Kate ; Garg, Ria ; Jelin, Angie C. ; Boscardin, John ; Norton, Mary E. ; Sparks, Teresa N.Prenatal diagnosis, 2023-02, Vol.43 (2), p.133-143 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasmaMazloom, Amin R. ; Džakula, Željko ; Oeth, Paul ; Wang, Huiquan ; Jensen, Taylor ; Tynan, John ; McCullough, Ron ; Saldivar, Juan-Sebastian ; Ehrich, Mathias ; van den Boom, Dirk ; Bombard, Allan T. ; Maeder, Margo ; McLennan, Graham ; Meschino, Wendy ; Palomaki, Glenn E. ; Canick, Jacob A. ; Deciu, CosminPrenatal diagnosis, 2013-06, Vol.33 (6), p.591-597 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Variation in the decision to terminate pregnancy in the setting of fetal aneuploidyShaffer, Brian L. ; Caughey, Aaron B. ; Norton, Mary E.Prenatal diagnosis, 2006-08, Vol.26 (8), p.667-671 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fractionHooks, J. ; Wolfberg, A. J. ; Wang, E. T. ; Struble, C. A. ; Zahn, J. ; Juneau, K. ; Mohseni, M. ; Huang, S. ; Bogard, P. ; Song, K. ; Oliphant, A. ; Musci, T. J.Prenatal diagnosis, 2014-05, Vol.34 (5), p.496-499 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Non‐invasive prenatal screening versus prenatal diagnosis by array comparative genomic hybridization: a comparative retrospective studySotiriadis, Alexandros ; Papoulidis, Ioannis ; Siomou, Elisavet ; Papageorgiou, Elena ; Eleftheriades, Makarios ; Papadopoulos, Vasilios ; Alexiou, Maria ; Manolakos, Emmanouil ; Athanasiadis, ApostolosPrenatal diagnosis, 2017-06, Vol.37 (6), p.583-592 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndromeHarbuz, Radu ; Lespinasse, James ; Boulet, Stéphanie ; Francannet, Christine ; Creveaux, Isabelle ; Benkhelifa, Mariem ; Jouk, Pierre-Simon ; Lunardi, Joël ; Ray, Pierre F.Prenatal diagnosis, 2010-11, Vol.30 (11), p.1072-1078 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |