Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

In two experiments on the choice of consumer goods, the estimated marginal willingness to pay for food are found to be lower in the survey version with cheap talk. Our test can be seen as a test of hypothetical bias. This implies we cannot reject the hypothesis of a hypothetical bias for marginal WTP in choice experiments. JEL classification: C91, Q13

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

A 46,XY/46,XY,del(20)(q13-->q13.33) mosaicism was identified in a 68 year old man who had mild mental retardation and severe malformation of the limbs. The clinical findings of the patient are compared to those of the very few cases of 20q deletion published to date.

Abstract Funding Acknowledgements Type of funding sources: None. Introduction/Background Cardiac rehabilitation programmes have proven to be effective in many ways patients with cardiovascular disease. In fact, its implementation has acquired a relevant role the European Clínical Practice Guidelines. The reasons why are successful diverse, including motivating improve their lifestyle. But, what...

Agenome-wide linkage scan was performed for genes affecting submaximal exercise systolic blood pressure (SBP) and diastolic blood pressure (DBP) in the sedentary state and their responses to a standardized endurance training program. A total of 344 polymorphic markers were used, and 344 pairs of siblings from 99 white nuclear families and 102 sibling pairs from 105 black family units were avail...

A role for gamma-aminobutyric acid (GABA)ergic inhibition in cortical sensory processing is one of the principle concerns of brain research. Angelman syndrome (AS) is thought to be one of the few neurodevelopmental disorders with GABAergic-related genetic involvement. AS results from a functional deficit of the imprinted UBE3A gene, located at 15q11-q13, resulting mainly from a 4-Mb deletion th...

Introduction Prader-Willi syndrome (PWS) is a complicated neurodevelopmental genetic disorder stemming from the loss of expression imprinted genes within 15q11-q13 region. It characterized by impaired hypothalamic development and function. Infants with PWS typically present hypotonia feeding difficulties, which in later stages childhood progress to hyperphagia, obesity, endocrine dysfunctions. ...