prader willi syndrome

Summary

Summary: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)

Top Publications

  1. Le Meur E, Watrin F, Landers M, Sturny R, Lalande M, Muscatelli F. Dynamic developmental regulation of the large non-coding RNA associated with the mouse 7C imprinted chromosomal region. Dev Biol. 2005;286:587-600 pubmed
    ..Although these last data do not completely exclude that the LNCAT variants including "Ube3a-ATS"exons could repress the paternal allele of Ube3a, they do allow us to propose an alternative and consistent model. ..
  2. Stevenson D, Heinemann J, Angulo M, Butler M, Loker J, Rupe N, et al. Gastric rupture and necrosis in Prader-Willi syndrome. J Pediatr Gastroenterol Nutr. 2007;45:272-4 pubmed
    ..The physician should consider an emergent evaluation for gastric rupture and necrosis in individuals with PWS who present with vomiting and abdominal pain. ..
  3. Soni S, Whittington J, Holland A, Webb T, Maina E, Boer H, et al. The course and outcome of psychiatric illness in people with Prader-Willi syndrome: implications for management and treatment. J Intellect Disabil Res. 2007;51:32-42 pubmed
  4. Makoff A, Flomen R. Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes. Genome Biol. 2007;8:R114 pubmed
    ..We have investigated this region by conducting a detailed examination of the sequenced genomic clones in the public database, focusing on clones from the RP11 library that originates from one individual...
  5. Stefan M, Ji H, Simmons R, Cummings D, Ahima R, Friedman M, et al. Hormonal and metabolic defects in a prader-willi syndrome mouse model with neonatal failure to thrive. Endocrinology. 2005;146:4377-85 pubmed
    ..Together, the data reveal defects in endocrine pancreatic function as well as glucose and hepatic energy metabolism that may underlie the neonatal phenotype of PWS...
  6. Rodriguez Jato S, Nicholls R, Driscoll D, Yang T. Characterization of cis- and trans-acting elements in the imprinted human SNURF-SNRPN locus. Nucleic Acids Res. 2005;33:4740-53 pubmed
    ..We propose that one or more of the regulatory elements identified in this study may also contribute to PWS-IC function...
  7. Milner K, Craig E, Thompson R, Veltman M, Thomas N, Roberts S, et al. Prader-Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46:1089-96 pubmed
    ..We also tested reports that PWS cases due to the larger type I (TI) form of deletion show differences to cases with the smaller type II (TII) deletion...
  8. Schlumpf M, Eiholzer U, Gygax M, Schmid S, van der Sluis I, l Allemand D. A daily comprehensive muscle training programme increases lean mass and spontaneous activity in children with Prader-Willi syndrome after 6 months. J Pediatr Endocrinol Metab. 2006;19:65-74 pubmed
    ..05, whereas the controls showed no change. In the training group, walking distance and PA increased from 4.2 to 4.7 km/d and from 255 to 266 points, respectively, and these rises significantly exceeded those observed in controls...
  9. Jauregi J, Arias C, Vegas O, Alen F, Martinez S, Copet P, et al. A neuropsychological assessment of frontal cognitive functions in Prader-Willi syndrome. J Intellect Disabil Res. 2007;51:350-65 pubmed
    ..This study uses standardized neuropsychological instruments to analyse the degree to which these processes are affected in PWS...

More Information

Publications67

  1. Kishore S, Stamm S. The snoRNA HBII-52 regulates alternative splicing of the serotonin receptor 2C. Science. 2006;311:230-2 pubmed
    ..Our results show that a snoRNA regulates the processing of an mRNA expressed from a gene located on a different chromosome, and the results indicate that a defect in pre-mRNA processing contributes to the Prader-Willi syndrome...
  2. Thomson A, Glasson E, Bittles A. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia. J Intellect Disabil Res. 2006;50:69-78 pubmed
  3. Miller J, James G, Goldstone A, Couch J, He G, Driscoll D, et al. Enhanced activation of reward mediating prefrontal regions in response to food stimuli in Prader-Willi syndrome. J Neurol Neurosurg Psychiatry. 2007;78:615-9 pubmed
    ..We hypothesised that the abnormal appetite in PWS results from aberrant reward processing of food stimuli in these neural pathways...
  4. Brandau D, Theodoro M, Garg U, Butler M. Follicle stimulating and leutinizing hormones, estradiol and testosterone in Prader-Willi syndrome. Am J Med Genet A. 2008;146A:665-9 pubmed publisher
  5. White H, Durston V, Harvey J, Cross N. Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome. Clin Chem. 2006;52:1005-13 pubmed
    ..Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus can differentiate the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS...
  6. Veltman M, Craig E, Bolton P. Autism spectrum disorders in Prader-Willi and Angelman syndromes: a systematic review. Psychiatr Genet. 2005;15:243-54 pubmed
    ..0176). Thus, the limited available evidence supported the prediction that overexpression of maternally imprinted genes in 15q11-13 confers a risk for ASD. Further research will be required to confirm these findings...
  7. Zarcone J, Napolitano D, Peterson C, Breidbord J, Ferraioli S, Caruso Anderson M, et al. The relationship between compulsive behaviour and academic achievement across the three genetic subtypes of Prader-Willi syndrome. J Intellect Disabil Res. 2007;51:478-87 pubmed
    ..The focus of this paper is on the non-food-related compulsions in individuals with PWS and comparing differences across the three genetic subtypes of the syndrome...
  8. Hinton E, Holland A, Gellatly M, Soni S, Patterson M, Ghatei M, et al. Neural representations of hunger and satiety in Prader-Willi syndrome. Int J Obes (Lond). 2006;30:313-21 pubmed
    ..To investigate the neural basis of the abnormal eating behaviour in Prader-Willi syndrome (PWS), using brain imaging. We predicted that the satiety response in those with PWS would be delayed and insensitive to food intake...
  9. Nygren A, Ameziane N, Duarte H, Vijzelaar R, Waisfisz Q, Hess C, et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences. Nucleic Acids Res. 2005;33:e128 pubmed
    ..To validate this novel method, we used MS-MLPA to detect aberrant methylation in DNA samples of patients with Prader-Willy syndrome, Angelman syndrome or acute myeloid leukemia...
  10. Capodaglio P, Vismara L, Menegoni F, Baccalaro G, Galli M, Grugni G. Strength characterization of knee flexor and extensor muscles in Prader-Willi and obese patients. BMC Musculoskelet Disord. 2009;10:47 pubmed publisher
    ..The aim of our study was to characterize the lower limb muscle function of patients affected by PWS as compared to non-syndromal obesity and normal-weight subjects...
  11. Lin H, Lin S, Yen J, Lee Y, Huang C, Hung H, et al. Prader-Willi syndrome in Taiwan. Pediatr Int. 2007;49:375-9 pubmed
    ..Prader-Willi syndrome (PWS) is a congenital disorder caused by absent expression of paternal genes in 15q11-13 affecting multiple systems. The information concerning the clinical features of this genetic disorder is incomplete in Taiwan...
  12. Nowicki S, Tassone F, Ono M, Ferranti J, Croquette M, Goodlin Jones B, et al. The Prader-Willi phenotype of fragile X syndrome. J Dev Behav Pediatr. 2007;28:133-8 pubmed
    ..CYFIP mRNA levels were significantly reduced in our patients with the PWP and FXS compared to individuals without FXS (p < .001) and also individuals with FXS without PWP (p = .03)...
  13. Johnstone K, DuBose A, Futtner C, Elmore M, Brannan C, Resnick J. A human imprinting centre demonstrates conserved acquisition but diverged maintenance of imprinting in a mouse model for Angelman syndrome imprinting defects. Hum Mol Genet. 2006;15:393-404 pubmed
    ..This maternal imprinting defect results in expression of maternal Ube3a-as and repression of Ube3a in cis, providing evidence that Ube3a is regulated by its antisense and creating the first reported mouse model for AS imprinting defects...
  14. Angulo M, Castro Magana M, Lamerson M, Arguello R, Accacha S, Khan A. Final adult height in children with Prader-Willi syndrome with and without human growth hormone treatment. Am J Med Genet A. 2007;143A:1456-61 pubmed
    ..Further studies will be necessary to determine related morbidity and mortality in individuals with PWS that reached final AH with or without GH treatment...
  15. Bertella L, Mori I, Grugni G, Pignatti R, Ceriani F, Molinari E, et al. Quality of life and psychological well-being in GH-treated, adult PWS patients: a longitudinal study. J Intellect Disabil Res. 2007;51:302-11 pubmed
    ..The aim of this study was to assess the long-term effect of GH treatment on the psychological well-being and Quality of Life (QoL) in an adult PWS group...
  16. Kim S, Jin D, Cho S, Kim J, Hong S, Paik K, et al. Regional cerebral glucose metabolic abnormality in Prader-Willi syndrome: A 18F-FDG PET study under sedation. J Nucl Med. 2006;47:1088-92 pubmed
    ..Prader-Willi syndrome (PWS) is a genetic disorder caused by the nonexpression of paternal genes in the PWS region of chromosome 15q11-13 and is the most common cause of human syndromic obesity...
  17. Bittel D, Butler M. Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev Mol Med. 2005;7:1-20 pubmed
    ..Here, we describe the clinical presentation of PWS, review the current understanding of causative cytogenetic and molecular genetic mechanisms, and discuss future directions for research...
  18. Hoybye C, Thoren M. Somatropin therapy in adults with Prader-Willi syndrome. Treat Endocrinol. 2004;3:153-60 pubmed
    ..However, further studies are required to establish the definite role and optimal dosage of somatropin, as well as long-term effects, in adults with Prader-Willi syndrome...
  19. Grugni G, Crino A, Bosio L, Corrias A, Cuttini M, De Toni T, et al. The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet A. 2008;146A:861-72 pubmed publisher
    ..Overall, there was no increase in number of deaths during GH treatment, suggesting that GH administration in patients with PWS, as a group, does not increase the risk of death...
  20. Bacheré N, Diene G, Delagnes V, Molinas C, Moulin P, Tauber M. Early diagnosis and multidisciplinary care reduce the hospitalization time and duration of tube feeding and prevent early obesity in PWS infants. Horm Res. 2008;69:45-52 pubmed
    ..To describe and evaluate the impact of very early diagnosis and multidisciplinary care on the evolution and care of infants presenting with Prader-Willi syndrome (PWS)...
  21. Holsen L, Zarcone J, Brooks W, Butler M, Thompson T, Ahluwalia J, et al. Neural mechanisms underlying hyperphagia in Prader-Willi syndrome. Obesity (Silver Spring). 2006;14:1028-37 pubmed
    ..We used functional magnetic resonance imaging to study the neural mechanisms underlying responses to visual food stimuli, before and after eating, in individuals with PWS and a healthy weight control (HWC) group...
  22. White H, Hall V, Cross N. Methylation-sensitive high-resolution melting-curve analysis of the SNRPN gene as a diagnostic screen for Prader-Willi and Angelman syndromes. Clin Chem. 2007;53:1960-2 pubmed
    ..Analysis of allelic methylation differences at the small nuclear ribonucleoprotein polypeptide N (SNRPN) locus differentiates the maternally and paternally inherited chromosome 15 and can be used as a diagnostic test for AS and PWS...
  23. Hinton E, Holland A, Gellatly M, Soni S, Owen A. An investigation into food preferences and the neural basis of food-related incentive motivation in Prader-Willi syndrome. J Intellect Disabil Res. 2006;50:633-42 pubmed
    ..The aim of this study was to examine the role of the reward system in such eating behaviour, in terms of both the pattern of food preferences and the neural substrates of incentive in the amygdala and orbitofrontal cortex (OFC)...
  24. Ding F, Li H, Zhang S, Solomon N, Camper S, Cohen P, et al. SnoRNA Snord116 (Pwcr1/MBII-85) deletion causes growth deficiency and hyperphagia in mice. PLoS ONE. 2008;3:e1709 pubmed publisher
    ..Prolonged mealtime and increased circulating ghrelin indicate a defect in meal termination mechanism. Snord116del mice, the first snoRNA deletion animal model, reveal a novel role for a non-coding RNA in growth and feeding regulation...
  25. Depienne C, Moreno De Luca D, Heron D, Bouteiller D, Gennetier A, Delorme R, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry. 2009;66:349-59 pubmed publisher
    ..However, the prevalence of these disorders in ASD is unknown. The aim of this study was to assess the frequency of 15q11-q13 rearrangements in a large sample of patients ascertained for ASD...
  26. Butler M, Theodoro M, Bittel D, Donnelly J. Energy expenditure and physical activity in Prader-Willi syndrome: comparison with obese subjects. Am J Med Genet A. 2007;143A:449-59 pubmed
    ..Our data indicate that there is a significant reduction of EE in individuals with PWS resulting from reduced activity but also from lower energy utilization due to reduced LBM which consists primarily of muscle...
  27. Goldstone A, Beales P. Genetic obesity syndromes. Front Horm Res. 2008;36:37-60 pubmed publisher
  28. Descheemaeker M, Govers V, Vermeulen P, Fryns J. Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls. Am J Med Genet A. 2006;140:1136-42 pubmed
    ..The results of the present study suggest the importance of reconsidering the commonly recognized obsessive-compulsive like behavior in PWS persons within the broader spectrum of autism disorders...
  29. Myers S, Whitman B, Carrel A, Moerchen V, Bekx M, Allen D. Two years of growth hormone therapy in young children with Prader-Willi syndrome: physical and neurodevelopmental benefits. Am J Med Genet A. 2007;143A:443-8 pubmed
    ..As greater benefits were seen in our study with early treatment, prompt referral to a pediatric endocrinologist for consideration of GH therapy is recommended for PWS at an early age...
  30. Butler M, Fischer W, Kibiryeva N, Bittel D. Array comparative genomic hybridization (aCGH) analysis in Prader-Willi syndrome. Am J Med Genet A. 2008;146A:854-60 pubmed publisher
    ..Furthermore, most PWS subjects had copy number variation (CNV) of 50 kb or larger in other chromosome regions; most common were deletions and duplications of 8p and 3q, previously recognized sites of CNV in the human genome...
  31. Dimitropoulos A, Schultz R. Autistic-like symptomatology in Prader-Willi syndrome: a review of recent findings. Curr Psychiatry Rep. 2007;9:159-64 pubmed
    ..This paper will review the recent evidence for phenotypic similarities between autism and PWS and the risk of symptomatology for the UPD subtype...
  32. Bischof J, Stewart C, Wevrick R. Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome. Hum Mol Genet. 2007;16:2713-9 pubmed
    ..Magel2-null mice provide an important opportunity to examine the physiological basis for PWS neonatal failure to thrive and post-weaning weight gain and for the relationships among circadian rhythm, feeding behavior, and metabolism...
  33. Murthy S, Nygren A, El Shakankiry H, Schouten J, Al Khayat A, Ridha A, et al. Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment. Cytogenet Genome Res. 2007;116:135-40 pubmed
    ..The study however further strengthens the fact that genome-wide analysis by array CGH in individuals with developmental delay and mental retardation is very useful in detecting such hidden interstitial chromosomal rearrangements...
  34. Salavoura K, Kolialexi A, Sofocleous C, Kalaitzidaki M, Pampanos A, Kitsiou S, et al. Complex rearrangements of chromosome 15 in two patients with mild/atypical Prader Willi syndrome. Genet Couns. 2008;19:219-24 pubmed
    Multiple mechanisms are responsible for the development of Prader Willi syndrome (PWS), the most common genetic cause of obesity in childhood. Molecular findings are usually deletions and uniparental disomy (UPD) of the 15q11-13 region...
  35. Vismara L, Romei M, Galli M, Montesano A, Baccalaro G, Crivellini M, et al. Clinical implications of gait analysis in the rehabilitation of adult patients with "Prader-Willi" Syndrome: a cross-sectional comparative study ("Prader-Willi" Syndrome vs matched obese patients and healthy subjects). J Neuroeng Rehabil. 2007;4:14 pubmed
    ..The results were compared with those obtained in a group of obese patients and in a group of healthy subjects...
  36. Choe Y, Song S, Paik K, Oh Y, Chu S, Yeo S, et al. Increased density of ghrelin-expressing cells in the gastric fundus and body in Prader-Willi syndrome. J Clin Endocrinol Metab. 2005;90:5441-5 pubmed
    ..In this study, we hypothesized that the hyperghrelinemia observed in PWS is related to IGF-I or GH/IGF axis deficiency...
  37. Pagliardini S, Ren J, Wevrick R, Greer J. Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin. Am J Pathol. 2005;167:175-91 pubmed
  38. Galassetti P, Saetrum Opgaard O, Cassidy S, Pontello A. Nutrient intake and body composition variables in Prader-Willi syndrome--effect of growth hormone supplementation and genetic subtype. J Pediatr Endocrinol Metab. 2007;20:491-500 pubmed
    ..We therefore compared GH-treated and nontreated patients, taking into account Tanner stage, gender, and genetic form...
  39. Butler M, Theodoro M, Skouse J. Thyroid function studies in Prader-Willi syndrome. Am J Med Genet A. 2007;143A:488-92 pubmed
  40. Bittel D, Kibiryeva N, Sell S, Strong T, Butler M. Whole genome microarray analysis of gene expression in Prader-Willi syndrome. Am J Med Genet A. 2007;143A:430-42 pubmed
    ..Our analysis identified previously unappreciated changes in gene expression which may contribute to the clinical manifestations seen in PWS...
  41. Craig M, Cowell C, Larsson P, Zipf W, Reiter E, Albertsson Wikland K, et al. Growth hormone treatment and adverse events in Prader-Willi syndrome: data from KIGS (the Pfizer International Growth Database). Clin Endocrinol (Oxf). 2006;65:178-85 pubmed
    ..To evaluate the response to recombinant GH treatment and adverse events in children with Prader-Willi syndrome (PWS) from KIGS, the Pfizer International Growth Database...
  42. Bittel D, Kibiryeva N, Butler M. Expression of 4 genes between chromosome 15 breakpoints 1 and 2 and behavioral outcomes in Prader-Willi syndrome. Pediatrics. 2006;118:e1276-83 pubmed
    ..Additional research is needed to identify the function of these genes and their interaction with gene networks to clarify the potential role they play in central nervous system development and function...
  43. Bittel D, Kibiryeva N, McNulty S, Driscoll D, Butler M, White R. Whole genome microarray analysis of gene expression in an imprinting center deletion mouse model of Prader-Willi syndrome. Am J Med Genet A. 2007;143A:422-9 pubmed
    ..These results, along with other recent reports, suggest that the cumulative effect of modest changes in expression of many genes, especially genes involved in energy metabolism, contribute to the failure to thrive of infants with PWS...
  44. Eiholzer U, l Allemand D, Rousson V, Schlumpf M, Gasser T, Girard J, et al. Hypothalamic and gonadal components of hypogonadism in boys with Prader-Labhart- Willi syndrome. J Clin Endocrinol Metab. 2006;91:892-8 pubmed
    ..The specific form of hypogonadism in Prader-Labhart-Willi syndrome (PWS), central or peripheral, remains unexplained...
  45. Kanber D, Giltay J, Wieczorek D, Zogel C, Hochstenbach R, Caliebe A, et al. A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome. Eur J Hum Genet. 2009;17:582-90 pubmed publisher
    ..2). This patient is obese and mentally retarded, but does not have PWS. We conclude that a deficiency of MKRN3, MAGEL2 and NDN is not sufficient to cause PWS...
  46. Horsthemke B, Buiting K. Imprinting defects on human chromosome 15. Cytogenet Genome Res. 2006;113:292-9 pubmed
    ..In the majority of patients with an imprinting defect, the incorrect imprint has arisen without a DNA sequence change, possibly as the result of stochastic errors of the imprinting process or the effect of exogenous factors...
  47. Camfferman D, McEvoy R, O Donoghue F, Lushington K. Prader Willi Syndrome and excessive daytime sleepiness. Sleep Med Rev. 2008;12:65-75 pubmed publisher
    b>Prader Willi Syndrome (PWS) is a rare genetic disorder characterized by a range of physical, psychological and physiological abnormalities...
  48. Theodoro M, Talebizadeh Z, Butler M. Body composition and fatness patterns in Prader-Willi syndrome: comparison with simple obesity. Obesity (Silver Spring). 2006;14:1685-90 pubmed
    ..To characterize the body composition of Prader-Willi syndrome (PWS) subjects and compare with simple obesity...
  49. Stefan M, Claiborn K, Stasiek E, Chai J, Ohta T, Longnecker R, et al. Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes. BMC Genomics. 2005;6:157 pubmed
    ..In this study, we define the deletion endpoints and examine the impact on expression of flanking genes...
  50. Butler M. Management of obesity in Prader-Willi syndrome. Nat Clin Pract Endocrinol Metab. 2006;2:592-3 pubmed
  51. Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, et al. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study. Am J Med Genet A. 2007;143A:460-8 pubmed
    ..020). In summary, the phenotype was significantly different between both groups in certain parameters related to the CNS. These results might be related to the differences in brain gene expression of the genetic subtypes...
  52. Proto C, Romualdi D, Cento R, Romano C, Campagna G, Lanzone A. Free and total leptin serum levels and soluble leptin receptors levels in two models of genetic obesity: the Prader-Willi and the Down syndromes. Metabolism. 2007;56:1076-80 pubmed
  53. Buiting K, Nazlican H, Galetzka D, Wawrzik M, Gross S, Horsthemke B. C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain. Genomics. 2007;89:588-95 pubmed
    ..Reinvestigation of C15orf2 revealed that this gene is also expressed in fetal brain and that expression in this tissue is monoallelic. We conclude that PWRN1 and C15orf2 may play a role in PWS...
  54. Ding F, Prints Y, Dhar M, Johnson D, Garnacho Montero C, Nicholls R, et al. Lack of Pwcr1/MBII-85 snoRNA is critical for neonatal lethality in Prader-Willi syndrome mouse models. Mamm Genome. 2005;16:424-31 pubmed
    ..Taking together all available data, we conclude that the lack of Pwcr1/MBII-85 snoRNA expression is the most likely cause for the neonatal lethality in PWS model mice...
  55. Sridhar P, Gan H, Schlick T. A computational screen for C/D box snoRNAs in the human genomic region associated with Prader-Willi and Angelman syndromes. J Biomed Sci. 2008;15:697-705 pubmed publisher
    ..Two of these candidates have extensive sequence similarity to HBII-52, a snoRNA that regulates the alternative splicing of serotonin receptor 2C mRNA. Six out of our eleven candidate snoRNAs are also predicted by other existing methods...
  56. van Hooren R, Widdershoven G, Candel M, van den Borne B, Curfs L. Between control and freedom in the care for persons with Prader-Willi syndrome: an analysis of preferred interventions by caregivers. Patient Educ Couns. 2006;63:223-31 pubmed
    ..The present study examined caregivers' preferences for intervention strategies in dealing with the dilemma of respecting autonomy of intellectually disabled persons versus providing high-quality care...
  57. Kozlov S, Bogenpohl J, Howell M, Wevrick R, Panda S, Hogenesch J, et al. The imprinted gene Magel2 regulates normal circadian output. Nat Genet. 2007;39:1266-72 pubmed
  58. Benarroch F, Hirsch H, Genstil L, Landau Y, Gross Tsur V. Prader-Willi syndrome: medical prevention and behavioral challenges. Child Adolesc Psychiatr Clin N Am. 2007;16:695-708 pubmed
    ..The multiple facets of the clinical problems demand a multidisciplinary approach with anticipatory medical and psychiatric care, oriented to enhancing the quality of life of individuals who have Prader-Willi syndrome...