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10601por Giannasi, Lilian Chrystiane, Matsui, Miriam Yumi, de Freitas Batista, Sandra Regina, Hardt, Camila Teixeira, Gomes, Carla Paes, Amorim, José Benedito Oliveira, de Carvalho Aguiar, Isabella, Collange, Luanda, dos Reis dos Santos, Israel, Dias, Ismael Souza, de Oliveira, Cláudia Santos, de Oliveira, Luis Vicente Franco, Gomes, Mônica Fernandes“…BACKGROUND: Few studies demonstrate effectiveness of therapies for oral rehabilitation of patients with cerebral palsy (CP), given the difficulties in chewing, swallowing and speech, besides the intellectual, sensory and social limitations. Due to upper airway obstruction, they are also vulnerable to sleep disorders. …”
Publicado 2012
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10602por Blaker-Lee, Alicia, Gupta, Sunny, McCammon, Jasmine M., De Rienzo, Gianluca, Sive, Hazel“…Deletion or duplication of one copy of the human 16p11.2 interval is tightly associated with impaired brain function, including autism spectrum disorders (ASDs), intellectual disability disorder (IDD) and other phenotypes, indicating the importance of gene dosage in this copy number variant region (CNV). …”
Publicado 2012
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10603por Marquardt, John, Begent, Richard H.J., Chester, Kerry, Huston, James S., Bradbury, Andrew, Scott, Jamie K., Thorpe, Philip E., Veldman, Trudi, Reichert, Janice M., Weiner, Louis M.“…A pre-conference workshop on Sunday, December 2, 2012 will update participants on recent intellectual property (IP) law changes that affect antibody research, including biosimilar legislation, the America Invents Act and recent court cases. …”
Publicado 2012
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10604“…Genetic mutations of cullin-4b (cul4b) cause a prevalent type of X-linked intellectual disability (XLID) in males, but the physiological function of Cul4B in neuronal cells remains unclear. …”
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10605por Dey, Arpita, Bhowmik, Krishnendu, Chatterjee, Arpita, Chakrabarty, Pit Baran, Sinha, Swagata, Mukhopadhyay, Kanchan“…Down syndrome (DS), the principal cause for intellectual disability, is also associated with hormonal, immunological, and gastrointestinal abnormalities. …”
Publicado 2013
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10606por Zipursky, Alvin, Wazny, Kerri, Black, Robert, Keenan, William, Duggan, Christopher, Olness, Karen, Simon, Jonathan, Simpson, Evan, Sherman, Philip, Santosham, Mathuram, Bhutta, Zulfiqar A.“…There is a need for better definitions of those factors that supported and interfered with the use of these agents; 2) There is an urgent need to determine the long–term effects of chronic and recurrent bouts of diarrhoea on the physical and intellectual development of affected children; 3) Improvements in water, sanitation and hygiene facilities are critical steps required to reduce the incidence and severity of childhood diarrhoea; 4)Risk factors enhancing the susceptibility and clinical response to diarrhoea were explored; implementation research of modifiable factors is urgently required; 5) More research is required to better understand the causes and pathophysiology of various forms of enteropathy and to define the methods and techniques necessary for their accurate study. …”
Publicado 2013
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10607por Huguet, Guillaume, Nava, Caroline, Lemière, Nathalie, Patin, Etienne, Laval, Guillaume, Ey, Elodie, Brice, Alexis, Leboyer, Marion, Szepetowski, Pierre, Gillberg, Christopher, Depienne, Christel, Delorme, Richard, Bourgeron, Thomas“…PRRT2 is a candidate gene for ASD since homozygote mutations are associated with intellectual disability and heterozygote mutations cause benign infantile seizures, paroxysmal dyskinesia, or hemiplegic migraine. …”
Publicado 2014
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10608por Irimu, Grace W, Greene, Alexandra, Gathara, David, Kihara, Harrison, Maina, Christopher, Mbori-Ngacha, Dorothy, Zurovac, Dejan, Migiro, Santau, English, Mike“…Mobilization of basic resources was relatively easily undertaken while activities that required real intellectual and professional engagement of the senior staff were a challenge. …”
Publicado 2014
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10609“…Fragile X Syndrome (FXS) is caused by the lack of expression of the fragile X mental retardation protein (FMRP), which results in intellectual disability and other debilitating symptoms including impairment of visual-spatial functioning. …”
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10610por Rainger, Jacqueline K., Bhatia, Shipra, Bengani, Hemant, Gautier, Philippe, Rainger, Joe, Pearson, Matt, Ansari, Morad, Crow, Jayne, Mehendale, Felicity, Palinkasova, Bozena, Dixon, Michael J., Thompson, Pamela J., Matarin, Mar, Sisodiya, Sanjay M., Kleinjan, Dirk A., FitzPatrick, David R.“…This syndrome comprises long nose, small mouth, micrognathia, cleft palate, arachnodactyly and intellectual disability. These BPs map to a gene desert between PLCL1 and SATB2. …”
Publicado 2014
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10611por Boggula, Vijay R., Shukla, Anju, Danda, Sumita, Hariharan, Sankar V., Nampoothiri, Sheela, Kumar, Rashmi, Phadke, Shubha R.“…BACKGROUND & OBJECTIVES: Developmental delay (DD)/mental retardation also described as intellectual disability (ID), is seen in 1-3 per cent of general population. …”
Publicado 2014
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10612por Nixon, Stephanie A, Cameron, Cathy, Hanass-Hancock, Jill, Simwaba, Phillimon, Solomon, Patricia E, Bond, Virginia A, Menon, Anitha, Richardson, Emma, Stevens, Marianne, Zack, Elisse“…PWDs had physical, hearing, visual and/or intellectual impairments. Interviews were conducted in English, Nyanja, Bemba or Zambian sign language. …”
Publicado 2014
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10613por Pasche, Emilie, Gobeill, Julien, Kreim, Olivier, Oezdemir-Zaech, Fatma, Vachon, Therese, Lovis, Christian, Ruch, Patrick“…We investigate and combine different strategies and evaluate their respective impact on the performance of the search engine applied to various search tasks, which covers the putatively most frequent search behaviours of intellectual property officers in medical chemistry: 1) a prior art search task; 2) a technical survey task; and 3) a variant of the technical survey task, sometimes called known-item search task, where a single patent is targeted. …”
Publicado 2014
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10614por Sakai, Yasunari, Souzaki, Ryota, Yamamoto, Hidetaka, Matsushita, Yuki, Nagata, Hazumu, Ishizaki, Yoshito, Torisu, Hiroyuki, Oda, Yoshinao, Taguchi, Tomoaki, Shaw, Chad A, Hara, Toshiro“…BACKGROUND: 2q37 deletion syndrome is a rare congenital disorder that is characterized by facial dysmorphism, obesity, vascular and skeletal malformations, and a variable degree of intellectual disability. To date, common but variable phenotypes, such as skeletal or digit malformations and obesity, have been associated with the deleted size or affected genes at chromosome 2q37. …”
Publicado 2014
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10616por Cucoranu, Ioan C., Parwani, Anil V., Vepa, Suryanarayana, Weinstein, Ronald S., Pantanowitz, Liron“…Inventors of technology in this field typically file for patents to protect their intellectual property. An understanding of the patent landscape is crucial for companies wishing to secure patent protection and market dominance for their products. …”
Publicado 2014
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10617por Haltrich, Irén, Pikó, Henriett, Kiss, Eszter, Tóth, Zsuzsa, Karcagi, Veronika, Fekete, György“…Here we report on a 19 years old boy with intellectual disability having an unexpected structurally complex ring small supernumerary marker chromosome (sSMC) originated from a larger trisomy and a smaller tetrasomy of proximal 22q11 harboring additional copies of cat eye syndrome critical regions genes. …”
Publicado 2014
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10618“…Mutations in human CASK have recently been shown to result in intellectual disability and neurological defects suggesting a role in plasticity and learning possibly via regulation of CaMKII autophosphorylation.…”
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10619por Park, Mi-Hyun, Woo, Hae-Mi, Hong, Young Bin, Park, Ji Hoon, Yoon, Bo Ram, Park, Jin-Mo, Yoo, Jeong Hyun, Koo, Heasoo, Chae, Jong-Hee, Chung, Ki Wha, Choi, Byung-Ok, Koo, Soo Kyung“…Both patients showed a period of normal development until 12–15 months, followed by ataxia, athetosis, hearing loss, and intellectual disability. Electrophysiological findings indicated motor and sensory polyneuropathies. …”
Publicado 2014
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10620por Bacchelli, Elena, Ceroni, Fabiola, Pinto, Dalila, Lomartire, Silvia, Giannandrea, Maila, D'Adamo, Patrizia, Bonora, Elena, Parchi, Piero, Tancredi, Raffaella, Battaglia, Agatino, Maestrini, Elena“…METHODS: We identified a compound heterozygous deletion intersecting the CTNNA3 gene, encoding αT-catenin, in a proband with ASD and moderate intellectual disability. The deletion breakpoints were mapped at base-pair resolution, and segregation analysis was performed. …”
Publicado 2014
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