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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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An extra X chromosome among adult women in the Million Veteran Program: A more benign perspective of trisomy XDavis, Shanlee M ; Teerlink, Craig C ; Lynch, Julie A ; Klamut, Natalia ; Gorman, Bryan R ; Pagadala, Meghana S ; Panizzon, Matthew S ; Merritt, Victoria C ; Genovese, Giulio ; Ross, Judith L ; Hauger, Richard LAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2024-03, p.e32083-e32083United StatesTexto completo disponível |
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Material Type: Artigo
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Dysgerminoma of the ovary in a patient with triple-X syndrome (47, XXX) and Marfanoid habitus featuresMoskwinska, Karolina ; Sniadecki, Marcin ; Wydra, DariuszGinekologia polska, 2021, Vol.92 (6), p.466-467 [Periódico revisado por pares]Gdansk: Wydawnictwo Via MedicaTexto completo disponível |
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Duodenal atresia in an infant with triple‐X syndrome: A new associated malformation in 47,XXXRolle, Udo ; Linse, Barbara ; Glasow, Simone ; Sandig, Klaus Rainer ; Richter, Thomas ; Till, HolgerBirth defects research. A Clinical and molecular teratology, 2007-08, Vol.79 (8), p.612-613 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Clinical and electroencephalographic features of epilepsy in patients with triple X syndrome: A case seriesDell'Isola, Giovanni Battista ; Mencaroni, Elisabetta ; Prontera, Paolo ; Cara, Giuseppe Di ; Ferraro, Luigi ; Bonanni, Paolo ; Carotenuto, Marco ; Iapadre, Giulia ; Matricardi, Sara ; Operto, Francesca ; Orsini, Alessandro ; Parisi, Pasquale ; Pavone, Piero ; Salpietro, Vincenzo ; Savasta, Salvatore ; Striano, Pasquale ; Verrotti, AlbertoSeizure (London, England), 2022-11, Vol.102, p.32-35 [Periódico revisado por pares]Elsevier LtdTexto completo disponível |
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Material Type: Artigo
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Tall Stature, Insulin Resistance, and Disturbed Behavior in a Girl with the Triple X Syndrome Harboring Three SHOX Genes: Offspring of a Father with Mosaic Klinefelter Syndrome but with Two Maternal X ChromosomesKanaka-Gantenbein, Christina ; Kitsiou, Sophia ; Mavrou, Ariadni ; Stamoyannou, Lela ; Kolialexi, Aggeliki ; Kekou, Kyriaki ; Liakopoulou, Magda ; Chrousos, GeorgeHormone research, 2004, Vol.61 (5), p.205-210 [Periódico revisado por pares]Basel, Switzerland: S. Karger AGTexto completo disponível |
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Material Type: Artigo
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Triple X syndrome: Psychiatric disorders and impaired social functioning as a risk factorOtter, Maarten ; Campforts, Bea C M ; Stumpel, Constance T R M ; van Amelsvoort, Thérèse A M J ; Drukker, MarjanEuropean psychiatry, 2022-12, Vol.66 (1), p.e7-e7, Article e7 [Periódico revisado por pares]England: Cambridge University PressTexto completo disponível |
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Material Type: Artigo
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Symptomatic Mandibular Fibrous Dysplasia With Concurrent Triple X- and Premutation Stage Fragile-X-Syndrome: Case Report With Short Literature SurveyFriedrich, Reinhard E ; Kohlrusch, Felix K ; Luebke, Andreas MAnticancer research, 2019-12, Vol.39 (12), p.6769-6780 [Periódico revisado por pares]Greece: International Institute of Anticancer ResearchTexto completo disponível |
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Material Type: Artigo
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Sella Turcica Shape in Fragile X SyndromeFriedrich, Reinhard EIn vivo (Athens), 2021-11, Vol.35 (6), p.3581-3584 [Periódico revisado por pares]Greece: International Institute of Anticancer ResearchTexto completo disponível |
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Material Type: Artigo
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Expanding the phenotype of Triple X syndrome: A comparison of prenatal versus postnatal diagnosisWigby, Kristen ; D'Epagnier, Cheryl ; Howell, Susan ; Reicks, Amy ; Wilson, Rebecca ; Cordeiro, Lisa ; Tartaglia, NicoleAmerican journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2870-2881 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |