Results 111 to 120 of about 15,704 (225)

Prader-Willi syndrome: care of adults in general practice [PDF]

, 2013
Background: Prader-Willi syndrome is a severely disabling genetic condition. Treatments are available, but there is no cure. Children aged up to 18 years may benefit from growth hormone treatment, which normalises height and assists in preventing obesity
Scheermeyer, Elly
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A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR) [PDF]

, 2000
Prader-Willi syndrome (PWS) is a multiple anomalies/mental retardation syndrome. The putative PWS gene(s) remains unknown, and its occurrence is based on genomic imprinting at chromosome 15q11-q13. We have constructed a 1.5- Mb, fine, physical map of PWS
Kondo, Shinji, Niikawa, Norio, Yoshiura, Kohichiro, Yamada, Koki, Kishino, Tatsuya, Soeda, Eiichi, Ohta, Tohru, Matsumoto, Naomichi, Tomita, Hiroaki, Fujii, Tohru   +9 more
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Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype

Brazilian Journal of Medical and Biological Research, 2008
Monosomy 1p36 is the most common subtelomeric microdeletion syndrome with an incidence rate estimated to be 1 in 5000 births. A hypothesis of a similarity between patients with 1p36 deletion and those with Prader-Willi syndrome and the existence of two ...
V.R. Rodríguez, L.F. Mazzucato, J.M. Pina-Neto   +2 more
doaj  

Behavioral Profile of Children and Adolescents with Prader-Willi Syndrome and Exogenous Obesity

Psicologia, 2009
The objective of present study was compared the behavioral profile of two different groups of children and adolescents with obesity. Ten subjects presented diagnoses of exogenous obesity and ten Prader-Willi syndrome.
Yara Garzuzi, Luiz Renato Rodrigues Carreiro, José Salomão Schwartzman, Maria Luiza Guedes de Mesquita, Domingos Palma, Fábio Ancona Lopez, Denise Ely Bellotto de Moraes, Elizeu Coutinho de Macedo, Maria Cristina Triguero Veloz Teixeira   +8 more
doaj  

Practical guidelines for children with Prader-Willi Syndrome [PDF]

, 2012
Although Prader-Willi syndrome is a rare disease, it provides an excellent example of how early diagnosis and meticulous management can significantly improve long-term prognosis of some genetic diseases.
Tornese G, Pastore S, Tonini G.
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Perception of four intellectual and developmental disabilities based on search engine and news portrayal.

PLoS ONE
BackgroundFor people with intellectual and developmental disabilities, other's perceptions of them based on their condition often begin before birth and go on to impact relationships, opportunities, and self perception across the life course.
Lillian J Droscha, Sophia Chung, Zoe Li-Khan, Ashley Scott, Eric Rubenstein   +4 more
doaj   +1 more source

Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)

Ожирение и метаболизм
Prader–Willi–like syndromes (PWLS) represent a heterogeneous group of disorders characterized by a set of key clinical features, including muscular hypotonia, obesity, psychomotor and speech developmental delay, and behavioral problems, in the absence of
E. G. Panchenko, E. P. Atavina-Ermakova, A. F. Nikolaeva, T. V. Boyko, O. V. Vasyukova, D. A. Kopytina, N. G. Mokrysheva, S. I. Kutsev   +7 more
doaj   +1 more source

A genetic condition that spans both extremes of the nutritional spectrum

Practical Laboratory Medicine
Prader-Willi syndrome (PWS) is a complex genetic disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region, known as the Prader Willi critical region.
Lisa M. Johnson
doaj   +1 more source

Behaviour management in Prader-Willi syndrome [PDF]

, 1999
SIGLEAvailable from British Library Document Supply Centre-DSC:m00/17545 / BLDSC - British Library Document Supply CentreGBUnited ...
Prader-Willi Syndrome Association (UK) (United Kingdom)
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Endocrine management of children with Prader–Willi syndrome [PDF]

, 2013
Clarice Borschiver Medeiros,1 Ana Paula Bordallo,1 Flavio Moutinho Souza,2 Paulo Ferrez Collett-Solberg1,31Endocrinology Unit, Departamento de Medicina Interna, Faculdade de Ciências Médicas, Universidade do Estado do Rio de Janeiro (UERJ ...
Medeiros CB, Souza FM, Bordallo AP, Collett-Solberg PF   +3 more
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