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2681por Zong, Min, Wu, Xing-gang, Chan, Cecilia W. L., Choi, Mei Y., Chan, Hsiao Chang, Tanner, Julian A., Yu, SidneyEnlace del recurso
Publicado 2011
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2682por Martinez, Peggy C, Montano, Silvia M, Flores, Julio, Granados, Viviana, Rodriguez, JoseEnlace del recurso
Publicado 2012
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2683por Pryweller, Jennifer R, Avery, Suzanne N, Blackford, Jennifer U, Dykens, Elisabeth M, Thornton-Wells, Tricia A“…BACKGROUND: Williams syndrome (WS) is a rare genetic disorder caused by the deletion of approximately 25 genes at 7q11.23 that involves mild to moderate intellectual disability (ID). When using functional magnetic resonance imaging (fMRI) to compare individuals with ID to typically developing individuals, there is a possibility that differences in IQ contribute to between-group differences in BOLD signal. …”
Publicado 2012
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2684“…Thus far, more than ten human de novo mutations have been identified in patients with two types of disorders, epileptic encephalopathy and intellectual disability. We review these human mutations as well as the unique features of Na(v)1.6 that contribute to its role in determining neuronal excitability in vivo. …”
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2685por Vandewalle, Joke, Langen, Marion, Zschaetzsch, Marlen, Nijhof, Bonnie, Kramer, Jamie M., Brems, Hilde, Bauters, Marijke, Lauwers, Elsa, Srahna, Mohammed, Marynen, Peter, Verstreken, Patrik, Schenck, Annette, Hassan, Bassem A., Froyen, Guy“…We recently reported that duplication of the E3 ubiquitin ligase HUWE1 results in intellectual disability (ID) in male patients. However, the underlying molecular mechanism remains unknown. …”
Publicado 2013
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2686por Court, Franck, Camprubi, Cristina, Garcia, Cristina Vicente, Guillaumet-Adkins, Amy, Sparago, Angela, Seruggia, Davide, Sandoval, Juan, Esteller, Manel, Martin-Trujillo, Alex, Riccio, Andrea, Montoliu, Lluis, Monk, David“…Therefore, our observations may have important implications for identifying the cause of intellectual disabilities associated with the 8q24 locus.…”
Publicado 2014
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2687“…However, there has been little research in this area in people with epilepsy and intellectual disability (ID). We conducted a survey of the situations associated with increased or decreased seizure likelihood in this population. …”
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2688por Liu, Ying F., Sowell, Sarah M., Luo, Yue, Chaubey, Alka, Cameron, Richard S., Kim, Hyung-Goo, Srivastava, Anand K.“…In addition, we found a genomic deletion encompassing MAP1B in one patient with intellectual disability, microcephaly and seizures and deletions encompassing MYO16 in two unrelated patients with intellectual disability, autism and microcephaly. …”
Publicado 2015
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2689por Van Naarden Braun, Kim, Christensen, Deborah, Doernberg, Nancy, Schieve, Laura, Rice, Catherine, Wiggins, Lisa, Schendel, Diana, Yeargin-Allsopp, Marshalyn“…This study examined the prevalence and characteristics of autism spectrum disorder (ASD), cerebral palsy (CP), hearing loss (HL), intellectual disability (ID), and vision impairment (VI) over a 15–20 year time period, with specific focus on concurrent changes in ASD and ID prevalence. …”
Publicado 2015
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2690por Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F., Ropers, H. Hilger, Najmabadi, Hossein“…Cognitive impairment or intellectual disability (ID) is a widespread neurodevelopmental disorder characterized by low IQ (below 70). …”
Publicado 2015
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2691por Melville, Craig A., Mitchell, Fiona, Stalker, Kirsten, Matthews, Lynsay, McConnachie, Alex, Murray, Heather M., Melling, Chris, Mutrie, Nanette“…The objective of this study was to examine the effectiveness of a behaviour change programme to increase walking and reduce sedentary behaviour of adults with intellectual disabilities. METHODS: We used a cluster randomised controlled design and recruited participants over 18 years old and not regularly involved in physical activity from intellectual disabilities community-based organisations. …”
Publicado 2015
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2692por Dubos, Aline, Castells-Nobau, Anna, Meziane, Hamid, Oortveld, Merel A.W., Houbaert, Xander, Iacono, Giovanni, Martin, Christelle, Mittelhaeuser, Christophe, Lalanne, Valérie, Kramer, Jamie M., Bhukel, Anuradha, Quentin, Christine, Slabbert, Jan, Verstreken, Patrik, Sigrist, Stefan J., Messaddeq, Nadia, Birling, Marie-Christine, Selloum, Mohammed, Stunnenberg, Henk G., Humeau, Yann, Schenck, Annette, Herault, Yann“…ATP6AP2, an essential accessory component of the vacuolar H+ ATPase (V-ATPase), has been associated with intellectual disability (ID) and Parkinsonism. ATP6AP2 has been implicated in several signalling pathways; however, little is known regarding its role in the nervous system. …”
Publicado 2015
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2693“…Neither overly strong intellectual property rights, nor the absence of well delineated protection have proven an optimal fit for these two intermediary socio-technological systems of cumulative incremental innovation. …”
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2694“…BACKGROUND: The aging population of adults with intellectual and developmental disabilities (IDD) is growing. …”
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2695“…Among the antibiotics tested against the isolated organisms for susceptibility test, ceftriaxone and gentamicin maintain good activity against the majority of gram negative bacteria that cause UTIs recovered from individuals with intellectual disability. Vancomycin was effective against Staphylococcus aureus. …”
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2696por Long, Philip, May, Melanie M., James, Victoria M., Grannò, Simone, Johnson, John P., Tarpey, Patrick, Stevenson, Roger E., Harvey, Kirsten, Schwartz, Charles E., Harvey, Robert J.“…Non-syndromal X-linked intellectual disability (NS-XLID) represents a broad group of clinical disorders in which ID is the only clinically consistent manifestation. …”
Publicado 2016
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2697por Ellenkamp, Joke J. H., Brouwers, Evelien P. M., Embregts, Petri J. C. M., Joosen, Margot C. W., van Weeghel, Jaap“…Background People with an intellectual disability value work as a significant part of their lives, and many of them want to participate in regular paid employment. …”
Publicado 2015
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2698por Boggula, Vijay Raju, Agarwal, Meenal, Kumar, Rashmi, Awasthi, Shally, Phadke, Shubha R.“…BACKGROUND & OBJECTIVES: Cytogenetic microarray (CMA) is now recommended as a first-tier clinical diagnostic test in cases with idiopathic intellectual disability and/or developmental delay (ID/DD). …”
Publicado 2015
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2699por Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota“…Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide range of neurodevelopmental disorders (intellectual disability, microcephaly and other syndromic features). …”
Publicado 2016
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2700por Cappuccio, Gerarda, Vitiello, Francesco, Casertano, Alberto, Fontana, Paolo, Genesio, Rita, Bruzzese, Dario, Ginocchio, Virginia Maria, Mormile, Angela, Nitsch, Lucio, Andria, Generoso, Melis, Daniela“…BACKGROUND: Array-CGH (aCGH) is presently used into routine clinical practice for diagnosis of patients with intellectual disability (ID), multiple congenital anomalies (MCA), and autism spectrum disorder (ASD). …”
Publicado 2016
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