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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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47, XXX syndrome with infertility, premature ovarian insufficiency, and streak ovariesRafique, Munazzah ; AlObaid, Solaiman ; Al‐Jaroudi, DaniaClinical case reports, 2019-06, Vol.7 (6), p.1238-1241 [Periódico revisado por pares]England: John Wiley & Sons, IncTexto completo disponível |
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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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Material Type: Artigo
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Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic ReviewRicciardi, Giacomina ; Cammisa, Luca ; Bove, Rossella ; Picchiotti, Giorgia ; Spaziani, Matteo ; Isidori, Andrea M ; Aceti, Franca ; Giacchetti, Nicoletta ; Romani, Maria ; Sogos, CarlaChildren (Basel), 2022-11, Vol.9 (11), p.1719 [Periódico revisado por pares]Basel: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Eosinophilic esophagitis in individuals with sex chromosome aneuploidies: Clinical presentations and management implicationsHowell, Susan ; Buchanan, Catherine ; Davis, Shanlee M. ; Miyazawa, Heather ; Furuta, Glenn T. ; Tartaglia, Nicole R. ; Nguyen, NathalieMolecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1833-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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Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)Wager, Kim ; Zdebik, Anselm A ; Fu, Sonia ; Cooper, Jonathan D ; Harvey, Robert J ; Russell, Claire Del Bene, FilippoPloS one, 2016-06, Vol.11 (6), p.e0157365-e0157365 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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Material Type: Artigo
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Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidiesGreen, Tamar ; Flash, Shira ; Reiss, Allan LNeuropsychopharmacology (New York, N.Y.), 2019-01, Vol.44 (1), p.9-21 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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MOBBED: a computational data infrastructure for handling large collections of event-rich time series datasets in MATLABCockfield, Jeremy ; Su, Kyungmin ; Robbins, Kay AFrontiers in neuroinformatics, 2013-01, Vol.7, p.20 [Periódico revisado por pares]Switzerland: Frontiers Research FoundationTexto completo disponível |
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Material Type: Artigo
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Schizophrenia and Sex Chromosome AnomaliesDeLisi, Lynn E. ; Friedrich, Ursula ; Wahlstrom, Jan ; Boccio-Smith, Angela ; Foreman, Anders ; Eklund, Kurt ; Crow, Timothy J.Schizophrenia bulletin, 1994, Vol.20 (3), p.495-505 [Periódico revisado por pares]Oxford: National Institute of Mental HealthTexto completo disponível |
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Material Type: Artigo
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X inactivation in triploidy and trisomy : the search for autosomal transfactors that choose the active XMIGEON, Barbara R ; PAPPAS, Kara ; STETTEN, Gail ; TRUNCA, Carolyn ; JACOBS, Patricia AEuropean journal of human genetics : EJHG, 2008-02, Vol.16 (2), p.153-162 [Periódico revisado por pares]Avenel, NJ: Nature PublishingTexto completo disponível |