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New England Journal of Medicine, 2020 Trisomy 21, the presence of a supernumerary chromosome 21, results in a collection of clinical features commonly known as Down syndrome (DS). DS is among the most genetically complex of the conditions that are compatible with human survival post-term, and the most frequent survivable autosomal aneuploidy. Mouse models of DS, involving trisomy of all or
Stylianos E, Antonarakis +7 more
semanticscholar +10 more sources
The Scientific World JOURNAL, 2006 Pain is a homeostatic mechanism that intervenes to protect the organism from harmful stimuli that could damage its integrity. It is made up of two components: the sensory-discriminative component, which identifies the provenance and characteristics of the type of pain; and the affective-motivational component, on which emotional reflexes, following the
F. Mafrica +2 more
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The Lancet, 2003 The sequencing of chromosome 21 and the use of models of Down's syndrome in mice have allowed us to relate genes and sets of genes to the neuropathogenesis of this syndrome, and to better understand its phenotype. Research in prenatal screening and diagnosis aims to find methods to identify fetuses with Down's syndrome, and reduce or eliminate the need
David Patterson, Nancy J. Roizen
+8 more sources
Evaluating health visitors’ existing knowledge of Down syndrome and the effect of a training workshop [PDF]
, 2019 © 2018 The Authors. Journal of Policy and Practice in Intellectual Disabilities published by International Association for the Scientific Study of Intellectual and Developmental Disabilities and Wiley Periodicals, Inc.Children with Down syndrome are at ...
Mengoni, Silvana, Redman, Sandra
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Parents’ experiences of health visiting for children with Down syndrome [PDF]
, 2019 © MA Healthcare Limited.Children with Down syndrome have an increased likelihoodof experiencing serious health conditions. Health visitors canhave an important role in monitoring and promoting healthand development for young children with Down syndrome ...
Braun V +22 more
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Changing Student Teachers' Attitudes Towards Disability and Inclusion [PDF]
, 2003 A total of 274 preservice teacher education students were surveyed at the beginning and end of a one-semester unit on Human Development and Education which combined formal instruction with structured fieldwork experiences.
Campbell, Karyl +2 more
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Current Gerontology and Geriatrics Research, 2012 The initial clinical description of Down syndrome (DS) was made by Down in 1866 [1] and identified as trisomy of chromosome 21 by Lejeune et al. in 1959 [2]. DS, or trisomy 21, is one of the most common causes of intellectual disability (ID), and recent national prevalence estimates suggest that 14.47 per 10,000 live births are infants with DS, leading
Elizabeth Head +3 more
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Down syndrome-recent progress and future prospects [PDF]
, 2009 Down syndrome (DS) is caused by trisomy of chromosome 21 (Hsa21) and is associated with a number of deleterious phenotypes, including learning disability, heart defects, early-onset Alzheimer's disease and childhood leukaemia.
Adams +96 more
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On the origin of trisomy 21 Down syndrome [PDF]
, 2008 Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability.
Hultén, Maj A. +6 more
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Down's Syndrome with Mania [PDF]
British Journal of Psychiatry, 1987 Sovner et al (1985) proposed that the presence of Down's Syndrome (DS) precludes the possibility of concomitant mama, and this is not a new claim, since Earl (1961) had stated that neither cyclothymia nor manic-depressive psychosis occurred in the mentally retarded.
Edwin H. Cook, Bennett L. Leventhal
openaire +3 more sources