Results 91 to 100 of about 1,183,898 (170)
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 +2 more
doaj
PRADER-WILLI SYNDROME: WHAT IS THE GENERAL PEDIATRICIAN SUPPOSED TO DO? - A REVIEW
, 2018 Objective: To carry out a review about Prader-Willi Syndrome based on the most recent data about the subject and to give recommendation for the general pediatricians for early diagnoses and follow-up.
Hamilton Cabral Menezes-Filho (5884745) +9 more
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Prader-Willi Syndrome: Diagnostic Criteria
, 1993 Diagnostic criteria for Prader-Willi syndrome (PWS), developed by consensus of seven clinicians in consultation with experts, are reported from the University of Washington, Seattle, and six additional ...
J Gordon Millichap
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PLoS ONEBackgroundFor 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 +4 more
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Prader-Willi-like phenotype in fragile X syndrome
, 1994 Prader-Willi-like phenotype in fragile X syndrome. Schrander-Stumpel C, Gerver WJ, Meyer H, Engelen J, Mulder H, Fryns JP. Department of Clinical Genetics, Maastricht University Hospital, The Netherlands.
Frijns, J.P. +5 more
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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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, 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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