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Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)
Ожирение и метаболизмPrader–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 +7 more
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My Signature Honors Project revolved around my younger sister and her rare genetic condition, Prader-Willi Syndrome.
White, Sarah Elizabeth
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, 1970 An eleven-year-old boy reported with increasing body weight and appetite since birth. He is suffering from insulin dependent diabetes since ten years of age and underwent extensive investigation including MRI of brain.
MS Islam, S Hamid, ZI Chowdhury
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A genetic condition that spans both extremes of the nutritional spectrum
Practical Laboratory MedicinePrader-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
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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 +9 more
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La presente investigación se centra en conocer los aspectos fundamentales del síndrome de Prader-Willi. Sin embargo, su enfoque se extiende hacia el análisis del impacto que dicho síndrome puede tener en los cuidadores, reconociendo una posible ...
Tangarife Nupan, Santiago +1 more
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Prader-Willi syndrome: care of adults in general practice
, 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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Practical guidelines for children with Prader-Willi Syndrome
, 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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Ricerca delle basi molecolari e analisi dei profili cognitivi nelle patologie di sviluppo del Sistema Nervoso Centrale [PDF]
, 2007 Titomanlio, Luigi
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Recent progress in Lynch syndrome and other familial colorectal cancer syndromes
Ca-A Cancer Journal for Clinicians, 2018Patrick M Boland +2 more
exaly