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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False‐negative trisomy 18 non‐invasive prenatal test result due to 48,XXX,+18 placental mosaicismGao, Y. ; Stejskal, D. ; Jiang, F. ; Wang, W.Ultrasound in obstetrics & gynecology, 2014-04, Vol.43 (4), p.477-478 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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2 |
Material Type: Artigo
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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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3 |
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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4 |
Material Type: Artigo
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A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the LiteratureMavridi, Artemis ; Ntali, Georgia ; Theodora, Marianna ; Stamatelopoulos, Kimon ; Michala, LinaJournal of pediatric & adolescent gynecology, 2018-12, Vol.31 (6), p.651-654 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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Spontaneous Sexual Development and Heavy Menstrual Bleeding in 45,X Monosomy and 45,X/47,XXX Mosaic Turner Syndrome and a Review of the LiteratureKim, Myeong Jin ; Jeong, Hwal RimJournal of pediatric & adolescent gynecology, 2020-10, Vol.33 (5), p.602-606 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XXCremonini, Giorgio ; Poggi, Alice ; Capucci, Roberta ; Vesce, Fortunato ; Patella, Alfredo ; Marci, RobertoThe journal of obstetrics and gynaecology research, 2014-01, Vol.40 (1), p.259-262 [Periódico revisado por pares]AustraliaTexto completo disponível |
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7 |
Material Type: Artigo
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Prenatal diagnosis of 47,XXXKhoury-Collado, Fady ; Wehbeh, Ammar N. ; Fisher, Allan J. ; Bombard, Allan T. ; Weiner, ZeevAmerican journal of obstetrics and gynecology, 2005-05, Vol.192 (5), p.1469-1471 [Periódico revisado por pares]Philadelphia, PA: Mosby, IncTexto completo disponível |
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8 |
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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9 |
Material Type: Artigo
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Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetusGabriele, Tonni ; Gianpaolo, GrisoliaArchives of gynecology and obstetrics, 2013-07, Vol.288 (1), p.3-11 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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10 |
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 |