“…BACKGROUND: Mutations in proteins involved in the glycosylphosphatidylinositol anchor biosynthesis and remodeling pathway are associated with autosomal recessive forms of intellectual disability. Recently mutations in the PGAP1 gene that codes for PGAP1, a protein localized in the endoplasmic reticulum responsible for the first step of the remodeling of glycosylphosphatidylinositol was linked to a disorder characterized by psychomotor retardation and facial dysmorphism. …”
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“…BACKGROUND: Chromosome 6q duplication syndrome is a chromosome abnormality associated with characteristic phenotypic features such as intellectual disability (ID), short stature, feeding difficulties, microcephaly, dysmorphic features (prominent forehead, downslanting palpebral fissures, flat nasal bridge, tented upper lip, micrognathia, short webbed neck) and joint contractures. …”
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“…The patient had the typical facial appearance and intellectual disability associated with Cornelia de Lange syndrome in absence of limb involvement. …”
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“…CONCLUSION: The articulation of knowledge from non-indigenous practitioners and researchers with that of indigenous peoples might inform sustainable management practices that are, at the same time, respectful of indigenous perspectives and intellectual property rights. However, there are ontological, epistemological, political and financial barriers and constraints that need to be addressed in transdisciplinary research projects inter-relating academic, technical and indigenous knowledge systems for environmental management.…”
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“…ATRX gene mutations cause a severe intellectual disability disorder (α-thalassemia mental retardation X-linked (ATRX) syndrome; OMIM no. 301040), characterized by microcephaly, urogenital abnormalities and α-thalassemia. …”
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“…Results: Six barriers were identified based on available literature: The manufacturing process, the regulatory process, intellectual property rights, lack of incentive, the impossibility of substitution, and the innovator's reach. …”
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“…BACKGROUND: Early identification of autism spectrum disorder, intellectual developmental disorder, attention-deficit/hyperactivity disorder, and other neurodevelopmental disorders/problems is crucial, yet diagnosis is often delayed for years under the often misguided “wait-and-see” paradigm. …”
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“…METHODS: In this paper we present a case-study of a Moral Case Deliberation with the dilemma method in a health care institution for people with an intellectual disability, describing the theoretical background and the practical application of the dilemma method. …”
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“…CONCLUSION: The actions needed in the Region to increase the uptake of evidence in policy and practice include strengthening NHRS governance; bridging the motivation gap between researchers and health policy-makers; restoring trust between researchers and decision-makers; ensuring close and continuous intellectual intercourse among researchers, ministry of health policy-makers and technocrats during the life course of research projects or programmes; proactive collaboration between academia and industry; regular briefings of civil society, media, relevant parliamentary committees and development partners; development of vibrant knowledge translation platforms; development of action plans for implementing research recommendations, preferably in the context of the Sustainable Development Goals; and encouragement of competition on NHRS strengthening and research output and uptake among the countries using a barometer or scorecard to review their performance at various regional ministerial forums and taking into account the lessons learned from the MDG period.…”
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“…In affected individuals, it was found to segregate with retinitis pigmentosa (RP), goiter, primary ovarian insufficiency, and mild intellectual disability. Subsequent analysis of WES data in different cohorts uncovered four additional homozygous missense mutations in five unrelated families in whom iRD segregates with or without syndromic features. …”
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“…RESULTS: We identified 41 (0.21%) previously unreported exonic NRXN1 deletions ascertained for developmental delay/intellectual disability, significantly greater than in controls [OR=8.14 (95% CI 2.91–22.72), p< 0.0001)]. …”
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“…RESULTS: Heroin and opioid dependence had the highest disability weight of 0.630, whereas intellectual disability had the lowest (0.040). Untreated injuries ranked higher than severe mental disorders. …”
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“…The incentivized therapies offer opportunities: (1) to improve clinical efficacy and safety of existing drugs, (2) to catalyze patient-centered, disease self-management and behavior-changing habits, also improving health-related quality-of-life after reaching remission, and (3) merging copyrighted mHealth software with natural products, thus establishing an intellectual property protection of medical treatments comprising the natural products existing in public domain and currently promoted as dietary supplements. …”
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“…Retracing the evolution of Indo-European (IE) languages remains one of the most intriguing intellectual challenges in historical linguistics. Most of the IE language studies use the traditional phylogenetic tree model to represent the evolution of natural languages, thus not taking into account reticulate evolutionary events, such as language hybridization and word borrowing which can be associated with species hybridization and horizontal gene transfer, respectively. …”
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“…Findings from studies were categorized in 11 categories as the intimacy promoting interventions in dimensions of emotional, psychological, physical, sexual, temporal, communicational, social and recreational, aesthetic, spiritual, intellectual intimacy, and total intimacy. AUTHORS’ CONCLUSIONS: Improving and promoting communication, problem solving, self-disclosure and empathic response skills and sexual education and counseling in the form of cognitive-behavioral techniques and based on religious and cultural context of each society, an effective step can be taken to enhance marital intimacy and strengthen family bonds and stability. …”
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“…Genes for autism spectrum disorders (ASDs) are also implicated in fragile X syndrome (FXS), intellectual disabilities (ID) or schizophrenia (SCZ), and converge on neuronal function and differentiation. …”
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“…Met allele carriers showed worse adaptive social skills and self-direction, and increased scores in the social subscale of the Dementia Questionnaire for People with Intellectual Disabilities than Val allele homozygotes. …”
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“…Here we describe a “thin” lissencephaly (TLIS) variant characterized by megalencephaly, frontal predominant pachygyria, intellectual disability, and seizures. Trio-based whole-exome sequencing and targeted re-sequencing identified recessive mutations of CRADD in six individuals with TLIS from four unrelated families of diverse ethnic backgrounds. …”
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“…VPS13B mutation causes Cohen syndrome (CS) consistent with the proband’s phenotype (intellectual disability (ID), microcephaly, facial gestalt, retinal dystrophy, joint hypermobility and neutropenia). …”
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