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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Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves' disease and 47, XXX in a woman: A case reportLiang, Dong ; Han, Minmin ; Xu, Linxin ; Ren, Yi ; Zhang, Yi ; Yin, Jianhong ; Yang, Jing ; Liu, YunfengMedicine (Baltimore), 2022-10, Vol.101 (43), p.e31443-e31443 [Periódico revisado por pares]United States: Lippincott Williams & WilkinsTexto 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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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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4 |
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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5 |
Material Type: Artigo
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Attention-Deficit Hyperactivity Disorder Symptoms in Children and Adolescents with Sex Chromosome Aneuploidy: XXY, XXX, XYY, and XXYYTARTAGLIA, Nicole R ; AYARI, Natalie ; HUTAFF-LEE, Christa ; BOADA, RichardJournal of developmental and behavioral pediatrics, 2012-05, Vol.33 (4), p.309-318 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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6 |
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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7 |
Material Type: Artigo
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Poor socio-economic status in 47,XXX – An unexpected effect of an extra X chromosomeStochholm, Kirstine ; Juul, Svend ; Gravholt, Claus HEuropean journal of medical genetics, 2013-06, Vol.56 (6), p.286-291 [Periódico revisado por pares]Netherlands: Elsevier Masson SASTexto completo disponível |
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8 |
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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9 |
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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10 |
Material Type: Artigo
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Autoimmune Myelofibrosis Accompanied by Sjögren's Syndrome in a 47, XXX/46, XX Mosaic WomanTakahashi, TohruInternal Medicine, 2014, Vol.53(7), pp.783-787 [Periódico revisado por pares]Japan: The Japanese Society of Internal MedicineTexto completo disponível |