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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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Early symptoms of autism spectrum disorder (ASD) in 1–8 year old children with sex chromosome trisomies (XXX, XXY, XYY), and the predictive value of joint attentionBouw, Nienke ; Swaab, Hanna ; Tartaglia, Nicole ; Wilson, Rebecca L. ; Van der velde, Kim ; van Rijn, SophieEuropean child & adolescent psychiatry, 2023-11, Vol.32 (11), p.2323-2334 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: a systematic reviewLEGGETT, VICTORIA ; JACOBS, PATRICIA ; NATION, KATE ; SCERIF, GAIA ; BISHOP, DOROTHY V MDevelopmental medicine and child neurology, 2010-02, Vol.52 (2), p.119-129 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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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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Material Type: Artigo
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A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literatureCouloigner, Loïc ; Planes, Marc ; Ka, Chandran ; Audebert‐Bellanger, Séverine ; Redon, Sylvia ; Benech, Caroline ; Rouault, Karen ; Küry, Sebastien ; Peudenier, Sylviane ; Autret, Sandrine ; Gourlaouen, Isabelle ; Bonneau, Dominique ; Odent, Sylvie ; Bézieau, Stéphane ; Gilbert‐Dussardier, Brigitte ; Toutain, Annick ; Boland, Anne ; Deleuze, Jean‐François ; Le Marechal, Cédric ; Le Gac, Gérald ; Ferec, Claude ; Uguen, KevinClinical genetics, 2023-03, Vol.103 (3), p.377-379 [Periódico revisado por pares]Oxford, UK: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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Tissue-Specific Transcription Footprinting Using RNA PoI DamID (RAPID) in Caenorhabditis elegansGómez-Saldivar, Georgina ; Osuna-Luque, Jaime ; Semple, Jennifer I ; Glauser, Dominique A ; Jarriault, Sophie ; Meister, PeterGenetics (Austin), 2020-12, Vol.216 (4), p.931-945 [Periódico revisado por pares]United States: Oxford University PressTexto completo disponível |
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Material Type: Artigo
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Noninvasive prenatal detection of fetal sex chromosome abnormalities using the semiconductor sequencing platform (SSP) in Southern ChinaYang, Jiexia ; Hou, Yaping ; Guo, Fangfang ; Peng, Haishan ; Wang, Dongmei ; Li, Yi ; OY, Haoxin ; Wang, Yixia ; Lu, Jian ; Yin, AihuaJournal of assisted reproduction and genetics, 2021-03, Vol.38 (3), p.727-734 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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Material Type: Artigo
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The Optimal Cutoff Value of Z-scores Enhances the Judgment Accuracy of Noninvasive Prenatal ScreeningZhou, Lingna ; Zhang, Bin ; Liu, Jianbing ; Shi, Ye ; Wang, Jing ; Yu, BinFrontiers in genetics, 2021-07, Vol.12 [Periódico revisado por pares]Frontiers Media S.ATexto completo disponível |
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Material Type: Artigo
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Sex chromosome aneuploidy alters the relationship between neuroanatomy and cognitionWarling, Allysa ; Liu, Siyuan ; Wilson, Kathleen ; Whitman, Ethan ; Lalonde, François M. ; Clasen, Liv S. ; Blumenthal, Jonathan D. ; Raznahan, ArminAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2020-06, Vol.184 (2), p.493-505Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Insights to the schizophrenia continuum: A systematic review of saccadic eye movements in schizotypy and biological relatives of schizophrenia patientsMyles, Jessica B. ; Rossell, Susan L. ; Phillipou, Andrea ; Thomas, Elizabeth ; Gurvich, CarolineNeuroscience and biobehavioral reviews, 2017-01, Vol.72, p.278-300 [Periódico revisado por pares]United States: Elsevier LtdTexto completo disponível |