نتایج جستجو برای: willi syndrome
تعداد نتایج: 622258 فیلتر نتایج به سال:
Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a d...
Prader-Willi Syndrome (PWS) is a complex, neurogenetic, multisystem disorder with prevalence of 1:15000 to 1:30000, caused by lack expression genes in the paternally inherited chromosome 15q 11.2-q13. In this report we aim characterize and increase awareness kyphoscoliosis these children.
BACKGROUND Physical activity programs are a powerful tool against several diseases including obesity and their comorbidities. Prader-Willi syndrome is the most common genetic disease associated with obesity, and brings with it behavioral and emotional problems that need complex management. Research into the effect of physical activity programs on Prader-Willi syndrome is limited and it is frequ...
Prader-Willi syndrome is a neurogenetic disease resulting from the absence of paternal expression of several imprinted genes, including NECDIN. Prader-Willi children and adults have severe breathing defects with irregular rhythm, frequent sleep apneas, and blunted respiratory regulations. For the first time, we show that Prader-Willi infants have sleep apneas already present at birth. In parall...
The aim of the present study was to identify the psychosocial problems of parents of a child with Prader-Willi syndrome or a child with Angelman syndrome. In addition, the strategies these parents apply to cope with these problems as well as their need for information are described. To assess these topics, parents filled in a self-report questionnaire. Both parent groups were found to have a hi...
In 1956 Prader, Labhart, and Willi first described a group of patients who presented with 'floppiness' at birth and later became obese, dwarfed, and mentally retarded, and some had impaired glucose tolerance tests. Further articles followed (Prader and Willi, 1961; Laurance, 1961, 1967; Forssman and Hagberg, 1964; Evans, 1964; Hooft, Delire, and Casneuf, 1966). Laurance gave a detailed descript...
Sim1 haploinsufficiency in mice induces hyperphagic obesity and developmental abnormalities of the brain. In humans, abnormalities in chromosome 6q16, a region that includes SIM1, were reported in obese children with a Prader-Willi-like syndrome; however, SIM1 involvement in obesity has never been conclusively demonstrated. Here, SIM1 was sequenced in 44 children with Prader-Willi-like syndrome...
Prader-Willi syndrome is a genetic disorder characterized by mental retardation, dysmorphic features, and behavioral dysfunction, most notably food-related problems such as hyperphagia, food seeking, and a high risk for obesity (1). Although food-related symptoms are a hallmark of the disorder, other psychiatric manifestations are common and can lead to significant interference in the affected ...
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