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The behavioral profile of children aged 1–5 years with sex chromosome trisomy (47,XXX, 47,XXY, 47,XYY)Urbanus, Evelien ; Swaab, Hanna ; Tartaglia, Nicole ; Cordeiro, Lisa ; Rijn, SophieAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.444-455Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old childrenBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Jansen, Anna C. ; Rijn, SophieAmerican journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.1943-1953 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47,XXX syndrome—A comparison with Turner syndrome and 46,XX femalesNielsen, Morten Muhlig ; Trolle, Christian ; Vang, Søren ; Hornshøj, Henrik ; Skakkebæk, Anne ; Hedegaard, Jakob ; Nordentoft, Iver ; Pedersen, Jakob Skou ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.279-293Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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A review of trisomy X (47,XXX)Tartaglia, Nicole R ; Howell, Susan ; Sutherland, Ashley ; Wilson, Rebecca ; Wilson, LennieOrphanet journal of rare diseases, 2010-05, Vol.5 (1), p.8-8, Article 8 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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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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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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Material Type: Artigo
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A case of non-mosaic X trisomy (65,XXX) in a Thoroughbred mare confirmed by cytogenetic and molecular analysisCieslak, Jakub ; Mackowski, Mariusz ; Skrzetuska, Weronika ; Fidos-Tama, Ewa ; Siwinska, Natalia ; Szczerbal, IzabelaJournal of applied genetics, 2024-05, Vol.65 (2), p.395-398 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Healthcare and support experiences of adolescents and young adults diagnosed with 47,XXY, 47,XXX, and 48,XXYYAhlawat, Nivedita ; Elliott, Kathryn ; Ormond, Kelly E. ; Allyse, Megan A. ; Riggan, Kirsten A.Journal of community genetics, 2024-02, Vol.15 (1), p.75-83 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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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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Material Type: Artigo
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Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital AnomaliesMassara, Lucía S. ; Delea, Marisol ; Espeche, Lucía ; Bruque, Carlos D. ; Oliveri, Jaen ; Brun, Paloma ; Furforo, Lilian ; Dain, Liliana ; Rozental, SandraCytogenetic and genome research, 2019-01, Vol.159 (3), p.137-142 [Periódico revisado por pares]Basel, SwitzerlandTexto completo disponível |