[PDF] Top 20 Inv21p12q22del21q22 and intellectual disability
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Inv21p12q22del21q22 and intellectual disability
... balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts “cryptic” complex chromosomal ...syndrome ... See full document
5
LIN7A depletion disrupts cerebral cortex development, contributing to intellectual disability in 12q21-deletion syndrome.
... dysmorphism and ID, similar to previously reported patients with 12q21 ...biochemical and RNAi analyses to clarify the pathophysiological significance of Lin-7A in 12q21- deletion ...migration and ... See full document
8
Screening for intellectual disability using high-resolution CMA technology in a retrospective cohort from central Brazil
... penetrance and also because de novo CNVs may represent benign ...clinical and genetic interpretation of the data acquired by CMA technologies still remains a challenge and often require further ... See full document
6
CORRELATION BETWEEN AGGRESSIVE BEHAVIOUR AND STRESS IN PEOPLE WITH INTELLECTUAL DISABILITY IN RELATION TO THE TYPE OF HOUSING
... 17 and 79 ...participant’s intellectual disability was determined based on each institution’s available psychological docu- ...moderate intellectual disabilities (IQ 40-55) with adaptive ... See full document
16
Disability, human rights and justice
... physical, intellectual, or sensory ...understanding disability claims that it is a natural disadvantage, and efforts should be focused on repairing the impairments in order to ensure that all people ... See full document
12
Discrimination and other barriers to accessing health care: perspectives of patients with mild and moderate intellectual disability and their carers.
... families, and that other types of informal support, such as that provided by support groups, temples or mosques play only a minor supporting role [31], [32], ...problems, and even intellectual ... See full document
13
Biochemical and hematological evaluation in subjects with intellectual disability associated or not to Down syndrome
... ID and DS, the present study showed that there are no major differences between the two populations, except regarding the plasma levels of ...21 and the decreasing plasma HDL-C levels in individuals with ... See full document
5
Novel gene PUS3 c.A212G mutation in Ukrainian family with intellectual disability
... (B) and homology models of wild type (C) and ...ball and stick model and colored in black, the catalytic amino acid residues D146, R144, R295 and Y201 are shown as sticks and ... See full document
8
RELATION BETWEEN QUALITY OF LIFE, CHOICE MAKING, AND FUTURE EXPECTATIONS IN ADULTS WITH INTELLECTUAL DISABILITY
... interconnected and also affected by and connected to all parts of the environment in which the person ...complexity and developmental level of the person with ...skilled and perceptive ... See full document
17
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
... rs1946816 and rs4481204, were recently reported to be associated with BMI in a European-American cohort ...mutations and the absence of homozygous frameshift or stop- codon generating mutations in publicly ... See full document
13
Transition to adulthood of young people in condition of Intellectual Disability (ICID): a comparative study of the professional's perspective in Norway and Colombia
... expansion and consolidation of the healthcare ...workers and poor people by improving public health care institutions; meanwhile in countries with dominance of right-center parties, as Colombia, the main ... See full document
93
Analysis of electroencephalogram-derived indexes for anesthetic depth monitoring in pediatric patients with intellectual disability undergoing dental surgery
... left and right side, either in the ASYM indicator calculated by the BIS monitor, or between the BIS from left and right ...indicator and its impli- cations for anesthetic depth monitoring should be ... See full document
10
Influence of repetitive elements on pathogenic copy number variants (CNVs) associated with X-Linked Intellectual Disability (XLID)
... genome and they account for 11% of the human genome ...genome and that they are the second most abundant class of retrotransposons flanking the breakpoints of pathogenic or potentially pathogenic copy ... See full document
53
A non-syndromic intellectual disability associated with a de novo microdeletion at 7q and 18p, microduplication at Xp, and 18q partial trisomy detected using chromosomal microarray analysis approach
... patient and her parents, in order to determine the origin of potential DNA imbalances, either de novo or ...labeled, and hybrid- ized using GeneChip CytoScan TM HD array protocols (Affymetrix, USA) ... See full document
7
INFLUENCE OF TRADITIONAL DANCE TRAINING PROGRAMS ON DYNAMIC BALANCE OF PEOPLE WITH INTELLECTUAL DISABILITY: A SHORT REVIEW
... week) and steady participation with no absence of all ID-I ...teaching, and motivation (Gallahue, & Ozmun, ...activities and technical movements (Eichstaedt & Lavay, 1992) such as traditional ... See full document
4
A 1.6-Mb microdeletion in chromosome 17q22 leads to NOG-related symphalangism spectrum disorder without intellectual disability.
... (NOG-SSD), intellectual dis- ability and other developmental ...amblyopia and strabismus, but not intellectual ...hybridization and quantitative real-time polymerase chain reaction, we ... See full document
8
Socio-emotional competences in Children with Intellectual Disability
... mechanisms, and strategies used in the intelligent act itself, designed as problem solving applied to social situations are the focus of analysis of the SI functionalist ...sensibility and causal thinking ... See full document
187
Genomic imbalances defining novel intellectual disability associated loci
... syndactyly and clin- ...ID and has a normal development for her age which, this being an X-linked gene, is not incom- patible with the causality of ...shape, and motility ...morphogenesis and ... See full document
13
Animal models of intellectual disability: towards a translational approach
... Intellectual disability is a prevalent form of cognitive impairment, affecting 2–3% of the general ...in intellectual functioning and in adaptive behavior as expressed in conceptual, social ... See full document
9
Development and validation of a multiplex-PCR assay for X-linked intellectual disability
... reaction and tested for annealing temperatures ranging from 55°C to ...time and con- centration of several PCR co-adjuvants such as 7-deaza dGTP, betaine and ...dCTP and dTTP (Bioline, London, ... See full document
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