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A cognitive and behavioural phenotype in williams syndrome

Journal of Clinical and Experimental Neuropsychology, 1991
Comparisons between children with Williams syndrome and control group children matched for age, sex, social class, and verbal intelligence provide support for a cognitive and behavioural phenotype in Williams syndrome. Children with the syndrome showed higher rates of behavioural and emotional difficulties when compared with the control group children,
O, Udwin, W, Yule
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Recent developments in the study of behaviour phenotypes

Australia and New Zealand Journal of Developmental Disabilities, 1994
This paper discusses issues arising from studies of the particular behavioural and psychopathological traits associated with genetic intellectual disability syndromes. These traits constitute what are now called behavioural phenotypes. The mechanism of inheritance of the Fragile X gene has now been demonstrated, and behavioural correlates identified ...
Einfeld, S.L., Hall, W. D.
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Behavioural Phenotypes

2020
Abstract This chapter describes the concept of behavioural phenotypes with examples of genetically-determined neurodevelopmental syndromes which are associated with particular developmental trajectories and specific comorbid risks for challenging behaviour or mental ill-health. Potential neural and other mechanisms that might explain the
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The cognitive and behavioural phenotype of Roifman syndrome

Journal of Intellectual Disability Research, 2006
AbstractBackground  Roifman syndrome (OMIM 300258) is a multi‐system disorder with a physical phenotype that includes Β‐cell immunodeficiency, intra‐uterine and postnatal growth retardation, spondyloepiphyseal dysplasia, retinal dystrophy and characteristic facial dysmorphism. So far, six cases, all boys, have been reported in the literature.
P J, de Vries   +4 more
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The heterozygous reeler mouse: behavioural phenotype

Behavioural Brain Research, 2004
The aim of this study was to investigate whether heterozygous reeler mice (+/rl) could be used as a genetic mouse model of schizophrenia, as previously suggested [J. Med. Chem. 44 (2001) 477]. The behavioural phenotype of male and female +/rl mice (young adult: 50-70 days old, and fully adult: >75 days old) was compared to their wild type ...
Jana, Podhorna, Michael, Didriksen
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Behavioural phenotype in Börjeson‐Forssman‐Lehmann syndrome

Journal of Intellectual Disability Research, 2009
AbstractBackground  Börjeson‐Forssman‐Lehmann syndrome (BFLs) is an X‐linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific ...
de Winter, C. F.   +3 more
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Behavioural phenotypes in adulthood

Psychiatry, 2006
Abstract Behavioural phenotypes are syndromes with a chromosomal or genetic aetiology, comprising both physiological and behaviour manifestations, including a distinctive social, linguistic, cognitive and motor profile. The course of the syndrome, both behaviourally and medically, is not stagnant, and the presentation of the syndrome can vary ...
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Bear-hybrids: behaviour and phenotype

Der Zoologische Garten, 2009
Zusammenfassung Das Verhalten und die morphologischen Merkmale eines weiblichen und eines mannlichen Barenhybriden (Braunbar Ursus arctos x Eisbar Ursus maritimus) wurden untersucht und mit dem ethologischen Profil und der Morphologie der Eltern verglichen. Die Verhaltensbeobachtungen wurden zwischen Juli und November 2007 durchgefuhrt.
Alexandra Preuß   +3 more
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Behavioural phenotypes and mental disorders

Psychiatry, 2009
Abstract Genetic disorders account for a sizeable proportion of learning disabilities. Several disorders are associated with mental ill-health. The commonest examples of psychiatric morbidity include psychosis, depression and dementia. Here, three examples of chromosomal abnormalities that have significant research evidence are used to discuss the ...
Ken Courtenay   +3 more
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Behavioural Phenotypes in Clinical Practice

Journal of the Royal Society of Medicine, 2003
The search for an explanation is part of the way parents try to come to terms with having a mentally disabled child. Whilst most explanatory value will come from the identification of genetic, neurological and other medical syndromes, an understanding of characteristic behavioural patterns can also be helpful to parents as well as clinicians.
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