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10201“…The intent was to use livestock genetic/biological resources as bioresources for innovation, which should lead to establishment of the Intellectual Property Rights (IPR) with benefits to be shared through the National Competent Authority or for research purposes.…”
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10202por Venti, Valeria, Consentino, Maria Chiara, Smilari, Pierluigi, Greco, Filippo, Oliva, Claudia Francesca, Fiumara, Agata, Falsaperla, Raffaele, Ruggieri, Martino, Pavone, Piero“…Results: In Group I, two patients showed cortical dysplasia and two dysembryoplastic neuroepithelial tumors plus focal cortical dysplasia; developmental delay/intellectual disability (DD/ID) was severe in one, moderate in one and absent in two; the type of seizures was in all the cases focal to bilateral tonic-clonic (FBTCs), and drug resistant was found in one case. …”
Publicado 2021
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10203por Wu, Hengjing, Wu, Jing, Zhang, Ziyan, Zheng, Yongtao, Niu, Wenxin, Zheng, Liang, Li, Jue“…CONCLUSION: Patients with physical disabilities have a significantly higher prevalence of hypertension compared to the normal population. Patients with intellectual or mental disabilities have lower rates of blood pressure control compared to other types of disabilities. …”
Publicado 2021
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10204por Jimoh, Oluseyi Florence, Ryan, Hayley, Killett, Anne, Shiggins, Ciara, Langdon, Peter E., Heywood, Rob, Bunning, Karen“…Included participants were adults with intellectual disabilities (n = 12), dementia (n = 9), mental health disorders (n = 2), autism (n = 3) and aphasia after stroke (n = 2). …”
Publicado 2021
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10205“…Down syndrome (DS) is the primary genetic cause of intellectual disability (ID), which is due to the triplication of human chromosome 21 (HSA21). …”
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10206por Jiang, Tiejia, Gao, Jia, Jiang, Lihua, Xu, Lu, Zhao, Congying, Su, Xiaojun, Shen, Yaping, Gu, Weiyue, Kong, Xiaohong, Yang, Ying, Gao, Feng“…Probands were divided into seizures with developmental delay/intellectual disability (DD/ID) and seizures without DD/ID groups. …”
Publicado 2021
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10207por Morejon-Garcia, Patricia, Keren, Boris, Marcos-Alcalde, Iñigo, Gomez-Puertas, Paulino, Mochel, Fanny, Lazo, Pedro. A.“…RESULTS: We have identified a very rare homozygous variant VRK1-D263G with a neurologic phenotype associated with HSP and moderate intellectual disability. The molecular modeling of this VRK1 variant protein predicted an alteration in the folding of a loop that interferes with the access to the kinase catalytic site. …”
Publicado 2021
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10208por Carpenter, Jenna C., Männikkö, Roope, Heffner, Catherine, Heneine, Jana, Sampedro‐Castañeda, Marisol, Lignani, Gabriele, Schorge, Stephanie“…OBJECTIVE: Mutations in KCNC1 can cause severe neurological dysfunction, including intellectual disability, epilepsy, and ataxia. The Arg320His variant, which occurs in the voltage‐sensing domain of the channel, causes a highly penetrant and specific form of progressive myoclonus epilepsy with severe ataxia, designated myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK). …”
Publicado 2021
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10209“…To ease these issues and facilitate collaborative efforts, some initiatives have come into being to encourage the release of Intellectual Property (IP) rights to unlock new possibilities from their use and possibly foster the collective innovation process. …”
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10210“…We aimed to investigate whether children with FED are at greater risks of developing emotional/behavioral disorders with onset usually during childhood, attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), and intellectual disability (ID). Methods: We conducted a population-based cohort study, including all singleton births in Denmark from January 1, 1995, to December 31, 2015. …”
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10211por Dzikienė, Renata, Lukoševičius, Saulius, Laurynaitienė, Jūratė, Marmienė, Vitalija, Nedzelskienė, Irena, Tamelienė, Rasa, Rimdeikienė, Inesa, Kudrevičienė, Aušrelė“…Health-related quality-of-life was assessed using the Health Utilities Index (HUI) questionnaire. Intellectual abilities were assessed using the Wechsler Intelligence Scale for Children (WISC). …”
Publicado 2021
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10212por Imbrici, Paola, Conte, Elena, Blunck, Rikard, Stregapede, Fabrizia, Liantonio, Antonella, Tosi, Michele, D’Adamo, Maria Cristina, De Luca, Annamaria, Brankovic, Vesna, Zanni, Ginevra“…Recently, heterozygous mutations in KCNA2 have been associated with a spectrum of symptoms extending from epileptic encephalopathy, intellectual disability, and cerebellar ataxia. Patients are treated with a combination of antiepileptic drugs and 4-aminopyridine (4-AP) has been recently trialed in specific cases. …”
Publicado 2021
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10213por Acharya, Anushree, Raza, Syed Irfan, Anwar, Muhammad Zeeshan, Bharadwaj, Thashi, Liaqat, Khurram, Khokhar, Muhammad Akram Shahzad, Everard, Jenna L., Nasir, Abdul, Nickerson, Deborah A., Bamshad, Michael J., Ansar, Muhammad, Schrauwen, Isabelle, Ahmad, Wasim, Leal, Suzanne M.“…(Asn1097Lys) in CDK13, a gene previously associated with autosomal dominant congenital heart defects, dysmorphic facial features, clinodactyly, gastrointestinal tract abnormalities, intellectual developmental disorder, and seizures with variable phenotypic features. …”
Publicado 2021
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10214“…The interest that led to this literature collection is based on a larger project, currently underway, that focuses on the use of medicines, food supplements and other natural products to improve physical, intellectual and social performance (performance consumption [1]) in three professional groups. …”
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10215“…Of the 143 infants assessed during the neonatal period, 89 had typical development (TD), 30 had intellectual disability (ID), and 24 had autism spectrum disorder (ASD). …”
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10216por Pontillo, Maria, Averna, Roberto, Tata, Maria Cristina, Chieppa, Fabrizia, Pucciarini, Maria Laura, Vicari, Stefano“…Recent research has also shown a high prevalence of neurodevelopmental disorders (e.g., intellectual disability, communication disorders, autism spectrum disorder, neurodevelopmental motor disorders) in VEOS/EOS patients, indicating genetic overlap between these conditions. …”
Publicado 2021
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10217por Jiang, Yan, Fu, Xing, Zhang, Yuhan, Wang, Shen-Fei, Zhu, Hong, Wang, Wei-Kang, Zhang, Lin, Wu, Ping, Wong, Catherine C. L., Li, Jinsong, Ma, Jinbiao, Guan, Ji-Song, Huang, Ying, Hui, Jingyi“…Rett syndrome (RTT) is a severe neurological disorder and a leading cause of intellectual disability in young females. RTT is mainly caused by mutations found in the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2). …”
Publicado 2021
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10218por Li, Qianqian, Zhu, Xiaofan, Wang, Conghui, Meng, Jingjing, Chen, Duo, Kong, Xiangdong“…Chromosome 18q deletion syndrome (18q- syndrome) is a terminal deletion or microdeletion syndrome characterized by intellectual disability and congenital malformations. …”
Publicado 2021
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10219por Zhao, Man, Yao, Yuan, Du, Jingyi, Kong, Liang, Zhao, Tiantian, Wu, Dong, Man, Lajie, Zhou, Wenjuan“…Hypoxic-ischemic encephalopathy (HIE) is one main cause of neonatal death and disability, causing substantial injury to white and gray matter, which can lead to severe neurobehavioral dysfunction, including intellectual disability and dyskinesia. Inflammation, nerve cell death, and white matter injury are important factors in the pathological process of HIE. 6-Gingerol is a ginger extract, which reduces inflammatory response and cell death. …”
Publicado 2021
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10220por Rivero, Olga, Alhama-Riba, Judit, Ku, Hsing-Ping, Fischer, Matthias, Ortega, Gabriela, Álmos, Péter, Diouf, David, van den Hove, Daniel, Lesch, Klaus-Peter“…Although loss-of-function mutations in ST3GAL3 are implicated in non-syndromic autosomal recessive intellectual disability (NSARID) and West syndrome, the impact of ST3GAL3 haploinsufficiency on brain function and the pathophysiology of neurodevelopmental disorders (NDDs), such as ADHD, is unknown. …”
Publicado 2021
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