Academic
Keywords
prader willi syndrome

PWS,prader willi syndrome,Prader Willy syndrome,Prader Willi syndromes

prader willi syndrome - PWS
Publications: 1,677| Citation Count: 19,762
Stemming Variations: Prader Willy syndrome, Prader Willi syndromes
Cumulative Annual
    • The Prader-Willi syndrome (PWS) is a genetic disorder characterized by hypotonia, mental retardation, hyperphagia and compulsive eating due to hypothalamic dysfunction. The aim of this study is to present the case of a patient with PWS, reviewing the literature on its main characteristics, etiology and a number of dental considerations...

    Arnaldo de França UPEet al. SÍNDROME DE PRADER WILLI: RELATO DE CASO Prader-Willi Syndrome: a Case...

    • The Prader-Willi syndrome (PWS) is a developmental disorder caused by a deficiency of paternal contributions, arising from differently sized deletions, uniparental disomy or rare imprinting mutations, in the chromosome region 15q11–q13...

    Hannaleena Kokkonenet al. A molecular and cytogenetic study in Finnish Prader-Willi patients

    • Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by a range of physical, psychological, and physiological abnormalities. It is also distinguished by the high prevalence of obstructive sleep apnea syndrome (OSAS), i.e., repetitive upper airway collapse during sleep resulting in hypoxia and sleep fragmentation...

    Danny Camffermanet al. Obstructive Sleep Apnea Syndrome in Prader-Willi Syndrome: An Unrecogn...

    • Prader Willi Syndrome (PWS) is a neuro-genetic disorder. It has been reported that cases due to paternal deletion 15q11–13 (Del) behave differently to cases due to uniparental disomy (UPD)...

    Marijcke W. M. Veltmanet al. Prader-Willi syndrome

    • Prader-Willi syndrome (PWS) is an unusual genetic disorder characterized by short stature, obesity, hypogonadism, hypotonia, cognitive impairment, and dysmorphic facies. There is an interstitial deletion of the proximal long arm of chromosome 15 in about 70% of patients. Some of these clinical features suggest a central hypothalamic/pituitary dysfunction, and recent investigations have demonstrated a marked impairment in spontaneous growth hormone (GH) secretion...

    L. Milleret al. MR of the pituitary in patients with Prader-Willi syndrome: Size deter...

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