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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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2 |
Material Type: Artigo
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X chromosome aneuploidies and schizophrenia: association analysis and phenotypic characterizationKushima, Itaru ; Aleksic, Branko ; Kimura, Hiroki ; Nakatochi, Masahiro ; Lo, Tzuyao ; Ikeda, Masashi ; Arai, Makoto ; Hashimoto, Ryota ; Numata, Shusuke ; Okamura, Yasunobu ; Obara, Taku ; Inada, Toshiya ; Ozaki, NorioPsychiatry and clinical neurosciences, 2022-12, Vol.76 (12), p.667-673 [Periódico revisado por pares]Melbourne: John Wiley & Sons Australia, LtdTexto completo disponível |
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Material Type: Artigo
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Liver biochemical abnormalities in Turner syndrome: A comprehensive characterization of an adult populationCalanchini, Matilde ; Moolla, Ahmad ; Tomlinson, Jeremy W. ; Cobbold, Jeremy F. ; Grossman, Ashley ; Fabbri, Andrea ; Turner, Helen E.Clinical endocrinology (Oxford), 2018-11, Vol.89 (5), p.667-676 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Material Type: Artigo
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An assessment of the analytical performance of non‐invasive prenatal testing (NIPT) in detecting sex chromosome aneuploidies: 34,717‐patient sample in a single prenatal diagnosis Centre in ChinaLuo, Yanmei ; Hu, Huamei ; Zhang, Rong ; Ma, Yongyi ; Pan, Yan ; Long, Yang ; Hu, Bin ; Yao, Hong ; Liang, ZhiqingThe journal of gene medicine, 2021-09, Vol.23 (9), p.e3362-n/a [Periódico revisado por pares]England: Wiley Periodicals IncTexto completo disponível |
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5 |
Material Type: Artigo
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Prenatal diagnosis, pregnancy determination and follow up of sex chromosome aneuploidy screened by non‐invasive prenatal testing from 122 453 unselected singleton pregnancies: A retrospective analysis of 7‐year experienceLuo, Xiaojin ; Liu, Weiqiang ; Hu, Liang ; Cong, Xiaoyi ; Liu, Xiaoyi ; Niu, Hongyan ; Zhou, Fei ; Li, Gaochi ; Wen, Lijuan ; Guo, YanyunCongenital anomalies, 2024-05, Vol.64 (3), p.99-106 [Periódico revisado por pares]Kyoto, Japan: John Wiley & Sons Australia, 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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In vitro fertilization and pregnancy outcomes of women with X chromosome abnormality: A case seriesWang, Ruohan ; Zhang, Linyu ; Liao, Jia ; Ma, Fang ; Ma, QianhongBirth defects research, 2024-05, Vol.116 (5), p.e2349-n/aHoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Clinical application of expanded noninvasive prenatal testing for fetal chromosome abnormalities in a cohort of 39,580 pregnanciesChen, Yisheng ; Lu, Loukaiyi ; Zhang, Ying ; Wang, Feifei ; Ni, Yinghua ; Wang, Qiang ; Ying, ChunmeiAmerican journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1426-1434 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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9 |
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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10 |
Material Type: Artigo
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Prevalence of chromosomal abnormalities in Sri Lankan women with primary amenorrheaSamarakoon, Lasitha ; Sirisena, Nirmala D. ; Wettasinghe, Kalum T. ; Kariyawasam, Kariyawasam Warnakulathanthrige Jayani C. ; Jayasekara, Rohan W. ; Dissanayake, Vajira H. W.The journal of obstetrics and gynaecology research, 2013-05, Vol.39 (5), p.991-997 [Periódico revisado por pares]Australia: Blackwell Publishing LtdTexto completo disponível |