Results 181 to 190 of about 15,704 (225)
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Journal of Paediatrics and Child Health, 1999
Prader–Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%).
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Prader–Willi syndrome is a multi system disorder characterized by neonatal hypotonia, later obesity, hyperphagia and mental retardation. It occurs sporadically, either as a result of microdeletion of chromosome 15p (70%) or as a result of maternal disomy of chromosome 15 (30%).
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Prader–Willi syndrome and Angelman syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2010AbstractPrader–Willi syndrome (PWS) and Angelman syndrome (AS) are two distinct neurogenetic disorders in which imprinted genes on the proximal long arm of chromosome 15 are affected. Although the SNORD116 gene cluster has become a prime candidate for PWS, it cannot be excluded that other paternally expressed genes in the chromosomal region 15q11q13 ...
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Articulation in Prader–Willi syndrome
Journal of Communication Disorders, 2002This study investigated articulation in 13 individuals with Prader-Willi syndrome (PWS), chronological age from 7; 0 to 29; 5, total IQ from 38 to 83. To elicit a speech sample a picture-naming test was used. Pictures were chosen so that, when named correctly, they yield a sample containing instances of all Dutch single speech sounds and clusters in ...
Truus, Defloor +2 more
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Hypoglycemia in Prader–Willi syndrome
American Journal of Medical Genetics Part A, 2014Although mouse models of Prader–Willi syndrome (PWS) suggest that hypoglycemia may be part of this syndrome, review of the literature shows little evidence that it is an issue in humans with PWS. Both adrenal and growth hormone deficiency can be seen in PWS, and both of these hormone deficiencies are associated with increased risk for hypoglycemia.
Rena A, Harrington +2 more
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Hypogonadism in Prader-Willi syndrome
Urology, 1987Prader-Willi syndrome is characterized by eating abnormalities, infantile hypotonia, obesity, mental retardation, and hypogonadism. The causation of hypogonadism varies. We describe a patient with Prader-Willi syndrome whose hypogonadism is secondary to a hypothalamic defect. Individualization of patients with this syndrome is suggested.
S R, Jaskulsky, N N, Stone
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Coping with Prader-Willi syndrome
Journal of the American Dietetic Association, 2002Weight- and behavior-control issues are major concerns for parents of a child with Prader-Willi syndrome. However, limited information is available on how families implement the necessary dietary restrictions and the effects of the strategies. This study identified the advice a group of families received regarding weight management, the nutrition ...
Dena L, Goldberg +3 more
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Prader‐Willi Syndrome and Scoliosis
Developmental Medicine & Child Neurology, 1981SummaryOf 37 patients with the Prader‐Willi syndrome for whom spinal x‐rays were available, 32 had a structural scoliosis of 10o or greater. Kyphosis was also found to be more common in older persons with this syndrome, occurring in only one of 14 adolescents but in five of 10 adults.
V A, Holm, E L, Laurnen
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DERMATOGLYPHICS IN PRADER‐WILLI SYNDROME
Journal of Intellectual Disability Research, 1975The finger-, palm-and sole-prints of thirteen patients with Prader-Willi syndrome have been analysed. Some information has also been obtained from another case. The topological classification has been used for describing palms and soles. Frequencies of finger pattern types, data on finger ridge-count and maximal atd angles are included.
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Oxytocin and Prader-Willi Syndrome
2017In the chapter, we explore the relationship between the peptide hormone, oxytocin (OT), and behavioral and metabolic disturbances observed in the genetic disorder Prader-Willi Syndrome (PWS). Phenotypic and genotypic characteristics of PWS are described, as are the potential implications of an abnormal OT system with respect to neural development ...
Anahid, Kabasakalian +2 more
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Prader–Willi syndrome in Taiwan
Pediatrics International, 2007AbstractBackground: Prader–Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11‐13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan.Methods: A retrospective analysis was carried out of 70 PWS patients (39 male, 31 females; age ...
Hsiang-Yu, Lin +14 more
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