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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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2 |
Material Type: Artigo
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The epidemiology of sex chromosome abnormalitiesBerglund, Agnethe ; Stochholm, Kirstine ; Gravholt, Claus HøjbjergAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.202-215Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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3 |
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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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disordersOetjens, M T ; Kelly, M A ; Sturm, A C ; Martin, C L ; Ledbetter, D HNature communications, 2019-10, Vol.10 (1), p.4897-10, Article 4897 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Behavioral and Social Phenotypes in Boys With 47,XYY Syndrome or 47,XXY Klinefelter SyndromeROSS, Judith L ; ROELTGEN, David P ; KUSHNER, Harvey ; ZINN, Andrew R ; REISS, Allan ; ZEGER BARDSLEY, Martha ; MCCAULEY, Elizabeth ; TARTAGLIA, NicolePediatrics (Evanston), 2012-04, Vol.129 (4), p.769-778 [Periódico revisado por pares]Elk Grove Village, IL: American Academy of PediatricsTexto completo disponível |
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Material Type: Artigo
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Noninvasive prenatal screening for fetal common sex chromosome aneuploidies from maternal bloodZhang, Bin ; Lu, Bei-Yi ; Yu, Bin ; Zheng, Fang-Xiu ; Zhou, Qin ; Chen, Ying-Ping ; Zhang, Xiao-QingJournal of international medical research, 2017-04, Vol.45 (2), p.621-630 [Periódico revisado por pares]London, England: SAGE PublicationsTexto completo disponível |
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7 |
Material Type: Artigo
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47,XYY Syndrome: Clinical Phenotype and Timing of AscertainmentBardsley, Martha Zeger, MD ; Kowal, Karen, PAC ; Levy, Carly, MD ; Gosek, Ania, BA ; Ayari, Natalie, BA ; Tartaglia, Nicole, MD ; Lahlou, Najiba, MD ; Winder, Breanna, PhD ; Grimes, Shannon, BA ; Ross, Judith L., MDThe Journal of pediatrics, 2013-10, Vol.163 (4), p.1085-1094 [Periódico revisado por pares]United States: Mosby, IncTexto completo disponível |
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Material Type: Artigo
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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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Testicular function in boys with 47,XYY and relationship to phenotypeDavis, Shanlee M ; Bloy, Luke ; Roberts, Timothy P.L. ; Kowal, Karen ; Alston, Amanda ; Tahsin, Aysha ; Truxon, Alyssa ; Ross, Judith LAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.371-385Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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10 |
Material Type: Artigo
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Only a minority of sex chromosome abnormalities are detected by a national prenatal screening program for Down syndromeViuff, Mette Hansen ; Stochholm, Kirstine ; Uldbjerg, Niels ; Nielsen, Birgitte Bruun ; Gravholt, Claus HøjbjergHuman reproduction (Oxford), 2015-10, Vol.30 (10), p.2419-2426 [Periódico revisado por pares]England: Oxford University PressTexto completo disponível |