Multi‐omics analysis reveals multiple mechanisms causing Prader–Willi like syndrome in a family with a X;15 translocation
Sign Up to like & getrecommendations! Published in 2022 at "Human Mutation"
DOI: 10.1002/humu.24440
Abstract: Prader–Willi syndrome (PWS; MIM# 176270) is a neurodevelopmental disorder caused by the loss of expression of paternally imprinted genes within the PWS region located on 15q11.2. It is usually caused by either maternal uniparental disomy… read more here.
Keywords: translocation; multi omics; prader willi; omics analysis ... See more keywords
Magel2 Modulates Bone Remodeling and Mass in Prader‐Willi Syndrome by Affecting Oleoyl Serine Levels and Activity
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.3591
Abstract: Among a multitude of hormonal and metabolic complications, individuals with Prader‐Willi syndrome (PWS) exhibit significant bone abnormalities, including decreased BMD, osteoporosis, and subsequent increased fracture risk. Here we show in mice that loss of Magel2,… read more here.
Keywords: oleoyl serine; willi syndrome; mass; prader willi ... See more keywords
A rapid and accurate methylation‐sensitive high‐resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.637
Abstract: Prader Willi (PWS) and Angelman (AS) syndromes are rare genetic disorders characterized by deletions, uniparental disomy, and imprinting defects at chromosome 15. The loss of function of specific genes caused by genetic alterations in paternal… read more here.
Keywords: resolution melting; methylation; high resolution; prader willi ... See more keywords
Measures of nocturnal oxyhemoglobin desaturation in children with neuromuscular disease or Prader‐Willi syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24899
Abstract: Evidence for nocturnal oximetry interpretation in patients with abnormal neuromuscular function is limited. We aimed to compare children with neuromuscular disease (NMD) or Prader‐Willi syndrome (PWS) to otherwise healthy subjects with obstructive sleep‐disordered breathing (SDB)… read more here.
Keywords: willi syndrome; prader willi; neuromuscular disease; children neuromuscular ... See more keywords
Box C/D small nucleolar RNA genes and the Prader‐Willi syndrome: a complex interplay
Sign Up to like & getrecommendations! Published in 2017 at "Wiley Interdisciplinary Reviews: RNA"
DOI: 10.1002/wrna.1417
Abstract: The nucleolus of mammalian cells contains hundreds of box C/D small nucleolar RNAs (SNORDs). Through their ability to base pair with ribosomal RNA precursors, most play important roles in the synthesis and/or activity of ribosomes,… read more here.
Keywords: small nucleolar; rna; box small; willi syndrome ... See more keywords
Daytime sleepiness and emotional and behavioral disturbances in Prader-Willi syndrome
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Pediatrics"
DOI: 10.1007/s00431-022-04439-2
Abstract: Individuals with Prader-Willi syndrome (PWS) often have excessive daytime sleepiness and emotional/behavioral disturbances. The objective of this study was to examine whether daytime sleepiness was associated with these emotional/behavioral problems, independent of nighttime sleep-disordered breathing,… read more here.
Keywords: prader willi; behavioral disturbances; daytime sleepiness; willi syndrome ... See more keywords
Oral findings in children and adolescents with Prader-Willi syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Oral Investigations"
DOI: 10.1007/s00784-018-2559-y
Abstract: ObjectiveTo assess the significance of changes in the saliva in the etiology of gingivitis and tooth wear in children and adolescents with Prader-Willi syndrome (PWS).Materials and methodsThe study included 80 (2.8–18 years old; 39 girls and… read more here.
Keywords: tooth wear; adolescents prader; mouth breathing; prader willi ... See more keywords
Syndrome-Related Risk Factors for Sexual Abuse: The Example of Prader–Willi Syndrome
Sign Up to like & getrecommendations! Published in 2021 at "Archives of Sexual Behavior"
DOI: 10.1007/s10508-021-01934-9
Abstract: Many genetic disorders associated with intellectual disability are characterized by unique behavioral phenotypes which may have serious psychological consequences such as increasing the risk for sexual abuse (SA). Prader–Willi Syndrome (PWS), a severe neurogenetic syndrome… read more here.
Keywords: risk; willi syndrome; sexual abuse; prader willi ... See more keywords
Decreasing Food Stealing of Child with Prader-Willi Syndrome Through Function-Based Differential Reinforcement
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-018-3747-y
Abstract: Challenging behaviors involving food are common for individuals with Prader-Willi syndrome (PWS) and often lead to obesity and other chronic health conditions. Efforts to decrease these behaviors, such as isolation during meals and strict monitoring… read more here.
Keywords: willi syndrome; differential reinforcement; prader willi; function based ... See more keywords
Skin Picking in People with Prader–Willi Syndrome: Phenomenology and Management
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Autism and Developmental Disorders"
DOI: 10.1007/s10803-020-04504-5
Abstract: Skin picking is highly prevalent in people with Prader–Willi syndrome (PWS). This study addressed the temporal (frequency, duration) and wider characteristics (e.g. type of skin picked, apparent motivations, or management strategies) of skin picking to… read more here.
Keywords: skin picking; people prader; willi syndrome; prader willi ... See more keywords
Update on Diabetes Mellitus and Glucose Metabolism Alterations in Prader-Willi Syndrome
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DOI: 10.1007/s11892-020-1284-5
Abstract: Purpose of Review This review summarizes our current knowledge on type 2 diabetes mellitus (T2DM) and glucose metabolism alterations in Prader-Willi syndrome (PWS), the most common syndromic cause of obesity, and serves as a guide… read more here.
Keywords: willi syndrome; metabolism alterations; prader willi; diabetes mellitus ... See more keywords