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Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Prader-Willi syndrome (PWS) is a complex genetic disorder associated with three different genetic subtypes: deletion of the paternal copy of 15q11-q13, maternal UPD for chromosome 15 and imprinting defect.
|
29776967 |
2018 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The relative frequency of disomic oocyte-mediated UPD(15)mat was significantly higher in PWS-MAR group than in PWS-NC group (7/13 vs 20/122, p = 0.0045), and the maternal childbearing ages were significantly higher in PWS-MAR group than in PWS-NC group [median (range), 38 (26-45) vs 30 (19-42), p = 0.0015].
|
26526156 |
2016 |
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Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The subgroup of people with PWS due to UPD or disomic region with female gender and a history of psychosis may be at risk of early onset dementia.
|
25088280 |
2015 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We evaluated BMD in 79 individuals with the common subtypes of PWS (48 with deletion and 27 with UPD) and the effect of growth hormone treatment (n=46) vs. no growth hormone treatment.
|
24515997 |
2014 |
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Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This was an observational cohort study.Clinic charts of 126 individuals (63 males, 63 females) with genetically confirmed PWS (due to a deletion in 72 cases, to uniparental disomy [UPD] in 51 cases, and to an imprinting centre defect in two cases), aged from 1 month to 48 years (mean age 13y), were reviewed and 119 interviews conducted.
|
23750756 |
2013 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A large population-based study of PWS allowed the identification of 12 people with a 15q11-q13 deletion who had suffered psychotic episodes and four adults with UPD(15)mat who so far had not.
|
18324689 |
2008 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Contrary to the expectation for a maternally expressed imprinted gene, quantitative RT-PCR revealed significantly reduced ATP10A transcript in Prader-Willi syndrome brains with two maternal chromosomes due to uniparental disomy (PWS UPD).
|
18726118 |
2008 |
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Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine probands with a firm clinical diagnosis of PWS but who had neither a typical deletion in the PWS region nor UPD(15)mat were investigated for inactivating mutations in 11 genes located in the PWS region, including SNURF and SNRPN, which are associated with the imprinting centre.
|
17262171 |
2007 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To further characterize genetic alterations in this classic obesity syndrome using whole genome microarrays to analyze gene expression, microarray and quantitative RT-PCR analysis were performed using RNA isolated from lymphoblastoid cells from PWS male subjects (four with 15q11-q13 deletion and three with UPD) and three age and cognition matched nonsyndromic comparison males.
|
17236194 |
2007 |
|
Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Clinical management of a child with Prader-Willi Syndrome from maternal uniparental disomy (UPD) genetic inheritance.
|
15979635 |
2006 |
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Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
We sought to address the practical question should laboratories carry out tests for mat UPD(14) on all samples received for PWS testing when PWS testing gives negative results?
|
15103712 |
2004 |
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Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
There was no evidence of expression of genes previously identified as paternally expressed in the PWS cell lines with either deletion or UPD.
|
12920063 |
2003 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Seventeen patients with Prader-Willi syndrome (7 with paternal deletion of chromosome 15q11-q13 and 10 with maternal uniparental disomy [UPD]), and 9 controls performed a computerized visual recognition task.
|
11425004 |
2001 |
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Prader-Willi Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
This finding underlines the importance of DNA analysis for maternal UPD(14) in patients with a similar PWS-like phenotype even without previous identification of a Robertsonian translocation involving chromosome 14.
|
10528860 |
1999 |
|
Prader-Willi Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A subgroup of patients with either syndrome have no apparent deletion, and because many such patients with Prader-Willi syndrome display inheritance of two copies of chromosome 15 from the mother only (uniparental disomy; UPD), we suggested that paternal UPD might be found in patients with Angelman syndrome.
|
1360787 |
1992 |