RESEARCH 2015

 

 

JANUARY TO MARCH (click to access)

 

Behaviour and mental health

 

• Avrahamy, H., Pollak, Y., Shriki-Tal, L., Genstil, L., Hirsch, H.J., Gross-Tsur, V., Benarroch, F. (2014) A disease specific questionnaire for assessing behavior in individuals with Prader-Willi syndrome. Compr Psychiatry.pii: S0010-440X(14)00358-7. doi: 0.1016/j.comppsych.2014.12.005. [Epub ahead of print]

• Krefft, M., Frydecka, D., Adamowski, T., Misiak, B. (2014) From Prader-Willi syndrome to psychosis: translating parent-of-origin effects into schizophrenia research. Epigenomics. 6 (6):677-88. doi: 10.2217/epi.14.52.Lo, S.T.,

• Siemensma, E.P., Festen, D.A., Collin, P.J., Hokken-Koelega, A.C. (2014) Behavior in children with Prader-Willi syndrome before and during growth hormone treatment: a randomized controlled trial and 8-year longitudinal study. Eur Child Adolesc Psychiatry. [Epub ahead of print]

• Nordstrøm, M ., Paus, B., Andersen, L.F, Kolset, S.O. (2015) Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader-Willi syndrome. Food Nutr Res. 3;59:25487. doi: 10.3402/fnr.v59.25487. eCollection 2015.

• Reilly, C., Murtagh, L., Senior, J. (2015) The Impact on the Family of Four Neurogenetic Syndromes: A Comparative Study of Parental Views. J Genet Couns. [Epub ahead of print]

• Rice, L.J., Einfeld, S.L. (2015) Cognitive and behavioural aspects of Prader-Willi syndrome. Curr Opin Psychiatry. 28(2):102-6. doi: 10.1097/YCO.0000000000000135.

• Welham, A., Lau, J., Moss, J., Cullen, J., Higg,s S., Warren, G., Wilde, L., Marr, A., Cook, F., Oliver, C. (2015) Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, Fragile X, Prader-Willi and 1p36 deletion syndromes. Am J Med Genet A. 167(3):572-8. doi:10.1002/ajmg.a.36923.

 

Cognition

• Foti, F., Menghini, D., Petrosini, L., Vicari, S., Valerio, G., Orlandi, E., Crinò, A., Spera, S., De Bartolo, P., Mandolesi, L. (2015) Explorative function in Prader-Willi syndrome analyzed through an ecological spatial task. Res Dev Disabil. 38:97-107. doi: 10.1016/j.ridd.2014.11.022. 

 

Endocrine and body composition

• Bakker, N.E., Kuppens, R.J., Siemensma, E.P., Tummers-de Lind van Wijngaarden, R.F., Festen, D.A., Bindels-de Heus, G.C., Bocca, G., Haring, D.A., Hoorweg-Nijman, J.J., Houdijk, E.C., Jira, P.E., Lunshof, L., Odink, R.J., Oostdijk, W., Rotteveel, J., Van Alfen, A.A., Van Leeuwen, M., Van Wieringen, H., Wegdam-den Boer, M.E.,Zwaveling-Soonawala, N., Hokken-Koelega, A.C. (2015) Bone Mineral Density in Children and Adolescents with Prader-Willi syndrome: A longitudinal study during puberty and 9 years of Growth Hormone treatment. J Clin Endocrinol Metab. 10:jc20144347. [Epub ahead of print] Open access

• Bedogni, G., Grugni, G., Tringali, G., Agosti, F., Sartorio, A. (2014) Assessment of fat-free mass from bioelectrical impedance analysis in obese women with Prader-Willi syndrome. Ann Hum Biol. 26:1-5. [Epub ahead of print]

• Höybye, C. (2014) Growth hormone treatment of Prader-Willi syndrome has long-term, positive effects on body composition. Acta Paediatr. doi: 10.1111/apa.12898. [Epub ahead of print]

• Rubin, D.A, Clark S.J., Ng J., Castner, D.M., Haqq, A.M., Judelson, D.A. Hormonal and Metabolic Responses to Endurance Exercise in Children With Prader-Willi Syndrome and Non-Syndromic Obesity. Metabolism. pii: S00260495(14)00369-2. doi: 10.1016/j.metabol.2014.11.011. [Epub ahead of print]

• Longhi, S., Grugni, G., Gatti, D., Spinozzi, E., Sartorio, A., Adami, S., Fanolla, A., Radetti, G. (2015) Adults with Prader-Willi Syndrome have Weaker Bones: Effect of Treatment with GH and Sex Steroids. Calcif Tissue Int. 96(2):160-6. doi: 10.1007/s00223-014-9949-1. Epub 2015 Jan 11.

 

 

Genetics and metabolic

• Butler, M.G, Hossain, W., Sulsona, C., Driscoll, D.J., Manzardo, A.M. (2015) Increased plasma chemokine levels in children with Prader-Willi syndrome. Am J Med Genet A. 167(3):563-71. doi: 10.1002/ajmg.a.36908.

• Meziane, H., Schaller, F., Bauer, S., Villard, C.,Matarazzo, V., Riet, F., Guillon, G., Lafitte, D., Desarmenien, MG.,Tauber, M., Muscatelli, F. (2015) An Early Postnatal Oxytocin Treatment Prevents Social and Learning Deficits in Adult Mice Deficient for Magel2, a Gene Involved in Prader-Willi Syndrome and Autism. Biol Psychiatry. pii: S00063223(14)00887-7. doi: 10.1016/j.biopsych.2014.11.010. [Epub ahead of print]

 

 

APRIL TO JUNE 2015 (click to access)

 

Behaviour (including eating)

• Davies, J. R., Humby, T., Dwyer, D. M., Garfield, A. S., Furby, H., Wilkinson, L. S., & Isles, A. (2015). Calorie seeking, but not hedonic response, contributes to hyperphagia in a mouse model for Prader‐Willi syndrome. European Journal of Neuroscience.

• Manning, K. E., McAllister, C. J., Ring, H. A., Finer, N., Kelly, C. L., Sylvester, K. P., ... & Holland, A. J. (2015). Novel insights into maladaptive behaviours in Prader–Willi syndrome: serendipitous findings from an open trial of vagus nerve stimulation. Journal of Intellectual Disability Research. Doi: 10.111/jidr.12203

• Rice, L. J., Gray, K. M., Howlin, P., Taffe, J., Tonge, B. J., & Einfeld, S. L. (2015, May). The developmental trajectory of disruptive behavior in Down syndrome, fragile X syndrome, Prader–Willi syndrome and Williams syndrome. In American Journal of Medical Genetics Part C: Seminars in Medical Genetics.

• Tvrdik, T., Mason, D., Dent, K. M., Thornton, L., Viskochil, D. H., & Stevenson, D. A. (2015). Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167(5), 974-982.

• Elliott, J. P., Cherpes, G., Kamal, K., Chopra, I., Harrison, C., Riedy, M., & Kalarchian, M. (2015). Relationship between Antipsychotics and Weight in Patients with Prader–Willi Syndrome. Pharmacotherapy: The Journal of Human Pharmacology and Drug Therapy, 35(3), 260-268.

 

Cognition and mental health

• Chevalère, J., Postal, V., Jauregui, J., Copet, P., Laurier, V., & Thuilleaux, D. (2015). Executive Functions and Prader-Willi Syndrome: Global Deficit Linked With Intellectual Level and Syndrome-Specific Associations. American journal on intellectual and developmental disabilities, 120(3), 215-229.

• Feinberg, J. I., Bakulski, K. M., Jaffe, A. E., Tryggvadottir, R., Brown, S. C., Goldman, L. R., & Feinberg, A. P. (2015). Paternal sperm DNA methylation associated with early signs of autism risk in an autism-enriched cohort. International journal of epidemiology, dyv028.

• Foti, F., Menghini, D., Orlandi, E., Rufini, C., Crinò, A., Spera, S., & Mandolesi, L. (2015). Learning by observation and learning by doing in Prader-Willi syndrome. Journal of neurodevelopmental disorders, 7(1), 6.

• Lo, S. T., Collin, P. J. L., & Hokken‐Koelega, A. C. S. (2015). Psychiatric disorders in children with Prader–Willi syndrome—Results of a 2‐year longitudinal study. American Journal of Medical Genetics Part A, 167(5), 983-991.

• Lo, S. T., Collin, P. J., & Hokken‐Koelega, A. C. (2015). Visual‐motor integration in children with Prader–Willi syndrome. Journal of Intellectual Disability Research.

 

Endocrine and GH

• Bakker, N. E., van Doorn, J., Renes, J. S., Donker, G. H., & Hokken-Koelega, A. C. S. (2015). IGF-I levels, complex formation and IGF-bioactivity in Growth Hormone treated Children with Prader-Willi syndrome. The Journal of Clinical Endocrinology & Metabolism, jc-2015.

• Bakker, N. E., Siemensma, E. P. C., Koopman, C., & Hokken-Koelega, A. C. S. (2015). Dietary Energy Intake, Body Composition and Resting Energy Expenditure in Prepubertal Children with Prader-Willi Syndrome before and during Growth Hormone Treatment: A Randomized Controlled Trial. Hormone research in paediatrics, 83(5), 321-331.

• Bedogni, G., Grugni, G., Tringali, G., Marazzi, N., & Sartorio, A. (2015). Does segmental body composition differ in women with Prader–Willi syndrome compared to women with essential obesity? Journal of endocrinological investigation, 1-5.

• Butler, M. G., & Manzardo, A. M. (2015). Androgen receptor (AR) gene CAG trinucleotide repeat length associated with body composition measures in non-syndromic obese, non-obese and Prader-Willi syndrome individuals. Journal of assisted reproduction and genetics, 1-7.

• Irizarry, K. A., Bain, J., Butler, M. G., Ilkayeva, O., Muehlbauer, M., Haqq, A. M., & Freemark, M. (2015). Metabolic profiling in Prader–Willi syndrome and nonsyndromic obesity: sex differences and the role of growth hormone. Clinical endocrinology.

• Kuppens, R. J., Diène, G., Bakker, N. E., Molinas, C., Faye, S., Nicolino, M., ... & Hokken-Koelega, A. C. S. (2015). Elevated ratio of acylated to unacylated ghrelin in children and young adults with Prader–Willi syndrome. Endocrine, 1-10.

• Marzullo, P., Marcassa, C., Minocci, A., Campini, R., Eleuteri, E., Alessandro Gondoni, L., ... & Grugni, G. (2015). Long-term echocardiographic and cardioscintigraphic effects of growth hormone treatment in adults with prader-willi syndrome. The Journal of Clinical Endocrinology & Metabolism, jc-2015.

• Nair, A., Kandasamy, D., Tripathi, M., & Jyotsna, V. P. (2015). Gall bladder agenesis in Prader Willi syndrome. Indian Journal of Endocrinology and Metabolism, 19(2), 305.

• Purtell, L., Viardot, A., Sze, L., Loughnan, G., Steinbeck, K., Sainsbury, A., ... & Campbell, L. V. (2015). Postprandial metabolism in adults with prader–willi syndrome. Obesity, 23(6), 1159-1165.

• Rigamonti, A. E., Grugni, G., Marazzi, N., Bini, S., Bidlingmaier, M., & Sartorio, A. (2015). Unaltered ratio of circulating levels of growth hormone/GH) isoforms in adults with Prader–Willi syndrome after GHRH plus arginine administration. Growth Hormone & IGF Research.

• Abreu, A. P., Macedo, D. B., Brito, V. N., Kaiser, U. B., & Latronico, A. C. (2015). A new pathway in the control of the initiation of puberty: the MKRN3 gene. Journal of molecular endocrinology, 54(3), R131-R139.

 

Genetics and brain imaging

• Butler, M. G., Wang, K., Marshall, J. D., Naggert, J. K., Rethmeyer, J. A., Gunewardena, S. S., & Manzardo, A. M. (2015). Coding and noncoding expression patterns associated with rare obesity-related disorders: Prader–Willi and Alström syndromes. Advances in genomics and genetics, 2015(5), 53.

• Kishimoto, R., Tamada, K., Liu, X., Okubo, H., Ise, S., Ohta, H., ... & Takumi, T. (2015). Model mice for 15q11-13 duplication syndrome exhibit late onset obesity and altered lipid metabolism. Human molecular genetics.

• Ostergaard, J. R. (2015). Phenotype of a child with Angelman syndrome born to a woman with Prader–Willi syndrome. American Journal of Medical Genetics Part A.

• Pravdivyi, I., Ballanyi, K., Colmers, W. F., & Wevrick, R. (2015). Progressive postnatal decline in leptin sensitivity of arcuate hypothalamic neurons in the Magel2-null mouse model of Prader-Willi Syndrome. Human molecular genetics, ddv159.

• Yang, A., Lee, Y. H., Nam, S. Y., Jeong, Y. J., Kyung, Y., Huh, R., ... & Jin, D. K. (2015). Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion. Annals of pediatric endocrinology & metabolism, 20(1), 40-45.

• Zarate, Y. A., Bosanko, K. A., Bhoj, E., Ganetzky, R., Starr, L. J., Zackai, E. H., & Schaefer, G. B. (2015). Phenotypic modifications of patients with full chromosome aneuploidies and concurrent suspected or confirmed second diagnoses. American Journal of Medical Genetics Part A.

• Zhang, Y., Wang, J., Zhang, G., Zhu, Q., Cai, W., Tian, J., ... & Liu, Y. (2015). The neurobiological drive for overeating implicated in Prader-Willi syndrome. Brain research.

 

Sensory and physical

• Angriman, M., Caravale, B., Novelli, L., Ferri, R., & Bruni, O. (2015). Sleep in Children with Neurodevelopmental Disabilities. Neuropediatrics.

• Ho, A. L., Sussman, E. S., Pendharkar, A. V., Azagury, D. E., Bohon, C., & Halpern, C. H. (2015). Deep brain stimulation for obesity: rationale and approach to trial design. Neurosurgical focus, 38(6), E8.

• Levy, B. J., Schulz, J. F., Fornari, E. D., & Wollowick, A. L. (2015). Complications associated with surgical repair of syndromic scoliosis. Scoliosis, 10(1), 14.

• Pavone, M., Caldarelli, V., Khirani, S., Colella, M., Ramirez, A., Aubertin, G., ... & Fauroux, B. (2015). Sleep disordered breathing in patients with Prader–Willi syndrome: A multicenter study. Pediatric pulmonology.

• Stagi, S., Iurato, C., Lapi, E., Cavalli, L., Brandi, M. L., & de Martino, M. (2015). Bone status in genetic syndromes: A review. Hormones (Athens, Greece), 14(1), 19-31.

• Tvrdik, T., Mason, D., Dent, K. M., Thornton, L., Viskochil, D. H., & Stevenson, D. A. (2015). Stress and coping in parents of children with Prader‐Willi syndrome: Assessment of the impact of a structured plan of care. American Journal of Medical Genetics Part A, 167(5), 974-982.

• Yang, H., Zhang, M., Song, H., Zhu, H., & Pan, H. (2015). Growth patterns of Chinese patients with Prader‐Willi syndrome. Congenital anomalies.

 

 

 

JULY TO SEPTEMBER 2015 (click to access)

 

Behaviour

• Lo, S. T., Festen, D. A., Tummers-de Lind van Wijngaarden, R. F., Collin, P. J., & Hokken-Koelega, A. C. (2015). Beneficial Effects of Long-Term Growth Hormone Treatment on Adaptive Functioning in Infants With Prader-Willi Syndrome. American journal on intellectual and developmental disabilities, 120(4), 315-327.

 

Endocrine and GH

• Angulo, M.A., Butler, M.G., Cataletto, M.E. (2015) Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest.

Duran,

• A. T., Gertz, E., Judelson, D. A., Haqq, A. M., Clark, S. J., Tsang, K. W., & Rubin, D. (2015). Cytokine Responses to Acute Intermittent Aerobic Exercise in Children with Prader-Willi Syndrome and Nonsyndromic Obesity. Pediatric exercise science.

• Fountain, M.D., Jr. & Schaaf, C.P. (2015) MAGEL2 and Oxytocin—Implications in Prader-Willi Syndrome and Beyond. BioPsych. 78:2,78–80.

 

Genetics and brain imaging

• Fintini, D., Inzaghi, E., Colajacomo, M., Bocchini, S., Grugni, G., Brufani, C., ... & Crinò, A. (2015). Non‐Alcoholic Fatty Liver Disease (NAFLD) in children and adolescents with Prader–Willi Syndrome (PWS). Pediatric obesity.

• Hirsch, H.J., Eldar-Geva, T., Bennaroch, F., Pollak, Y., Gross-Tsur, V. (2015). Sexual dichotomy of gonadal function in Prader-Willi syndrome from early infancy through the fourth decade. Hum Reprod. Sep 6. pii: dev213. [Epub ahead of print]

• Morandi, A., Bonnefond, A., Lobbens, S., Carotenuto, M., del Giudice, E. M., Froguel, P., & Maffeis, C. (2015). A girl with incomplete Prader–Willi syndrome and negative MS‐PCR, found to have mosaic maternal UPD‐15 at SNP array. American Journal of Medical Genetics Part A.

• Ondrušková, N., Honzík, T., Kytnarová, J., Matoulek, M., Zeman, J., & Hansíková, H. (2015). Isoelectric Focusing of Serum Apolipoprotein C-III as a Sensitive Screening Method for the Detection of O-glycosylation Disturbances. Prague medical report, 116(2), 73-86.

 

Sensory and physical

• Klabunde, M., Saggar, M., Hustyi, K. M., Hammond, J. L., Reiss, A. L., & Hall, S. S. (2015). Neural correlates of self‐injurious behavior in Prader–Willi syndrome. Human brain mapping.

 

 

 

OCTOBER TO DECEMBER 2015  (click to access)

 

Behaviour

• Bennett, J. A., Germani, T., Haqq, A. M., & Zwaigenbaum, L. (2015). Autism spectrum disorder in Prader–Willi syndrome: A systematic review.  American Journal of Medical Genetics Part A. 9999A:1–9.

• Bonnot, O., Cohen, D., Thuilleaux, D., Consoli, A., Cabal, S., Tauber, M. (2015) Psychotropic treatments in Prader-Willi syndrome: a critical review of published literature. Eur J Pediatr. [Epub ahead of print]

• Bravo, G.L., Poje, A.B., Perissinoti, I., Marcondes, B.F., Villamar, M.F., Manzardo, A.M., Luque, L., LePage, J.F., Stafford, D., Fregni, F., Butler, M.G. (2015). Transcranial Direct Current Stimulation Reduces Food-Craving and Measures of Hyperphagia Behavior in Participants With Prader–Willi Syndrome. Am J Med Genet Part B 9999:1–10.

• Butler, M.G., Manzardo, A.M., Forster, J.L. (2015) "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches". Curr Pediatr Rev. [Epub ahead of print] Griggs, J.L., Sinnayah, P., Mathai, M.L. (2015) Prader-Willi syndrome: From genetics to behaviour, with special focus on appetite treatments. Neurosci Biobehav Rev. Oct 22;59:155-172. doi: 10.1016/j.neubiorev.2015.10.003. [Epub ahead of print]

• Hellings, J.A., Jadhav, M., Jain, S., Jadhav, S., Genovese, A. (2015) Low Dose Loxapine: Neuromotor Side Effects and Tolerability in Autism Spectrum Disorders. J Child Adolesc Psychopharmacol. Oct;25(8):618-24. doi: 10.1089/cap.2014.0145.

• Masao, G., Hiroshi, I., Hiroyuki O., et al., (2015) “Gender Differences in the Behavioral Symptom Severity of Prader-Willi Syndrome,” Behavioural Neurology, vol. 2015, Article ID 294127. doi:10.1155/2015/294127

• Pujol, J., Blanco-Hinojo, L., Esteba-Castillo, S., Caixàs, A., Harrison, B.J., Bueno, M., Deus, J., Rigla, M., Macià, D., Llorente-Onaindia, J., Novell-Alsina, R. (2015) Anomalous basal ganglia connectivity and obsessive-compulsive behaviour in patients with Prader Willi syndrome. J Psychiatry Neurosci. 41(1):140338. doi: 10.1503/jpn.140338. [Epub ahead of print]

Endocrine and GH

• Alqahtani, A. R., Elahmedi, M. O., Al Qahtani, A. R., Lee, J., & Butler, M. G. (2015). Laparoscopic sleeve gastrectomy in children and adolescents with Prader-Willi syndrome: a matched-control study. Surgery for Obesity and Related Diseases. In press doi:10.1016/j.soard.2015.07.014

• Beauloye, V., Dhondt, K., Buysse, W., Nyakasane, A., Zech, F., De Schepper, J., ... & Cools, M. (2015). Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome. Orphanet journal of rare diseases, 10(1), 106.

• Bakker, N. E., Siemensma, E. P. C., van Rijn, M., Festen, D. A. M., & Hokken-Koelega, A. C. S. (2015). Beneficial Effect of Growth Hormone Treatment on Health-Related Quality of Life in Children with Prader-Willi Syndrome: A Randomized Controlled Trial and Longitudinal Study. Hormone research in paediatrics, 84(4), 231-239.

• Balikcioglu, P. G., Balikcioglu, M., Muehlbauer, M. J., Purnell, J. Q., Broadhurst, D., Freemark, M., & Haqq, A. M. (2015). Macronutrient regulation of Ghrelin and Peptide YY in Pediatric Obesity and Prader Willi Syndrome (PWS). The Journal of Clinical Endocrinology & Metabolism. 100(10):3822-31

• Corral, J. E., Kataria, R., Vickers, D., Koutouby, R., & Moshiree, B. (2015). Biofeedback therapy for chronic constipation in a patient with Prader-Willi syndrome. Annals of gastroenterology: quarterly publication of the Hellenic Society of Gastroenterology, 28(4), 502.

• Hayami, T., Kato, Y., Kamiya, H., Kondo, M., Naito, E., Sugiura, Y. & Nakamura, J. (2015). Case of ketoacidosis by a sodium‐glucose cotransporter 2 inhibitor in a diabetic patient with a low‐carbohydrate diet. Journal of Diabetes Investigation. 6: 587–590

• Hirsch, H. J., Eldar-Geva, T., Bennaroch, F., Pollak, Y., & Gross-Tsur, V. (2015). Sexual dichotomy of gonadal function in Prader–Willi syndrome from early infancy through the fourth decade. Human Reproduction. 30(11):2587-96.

• Hirsch, H. J., Gross, I., Pollak, Y., Eldar-Geva, T., & Gross-Tsur, V. (2015). Irisin and the Metabolic Phenotype of Adults with Prader-Willi Syndrome. PloS one, 10(9), e0136864.

• Johnson, L., Manzardo, A.M., Miller, J.L., Driscoll, D.J., Butler, M.G. (2015) Elevated plasma oxytocin levels in children with Prader–Willi syndrome compared with healthy unrelated siblings. Am J Med Genet Part A 9999A:1–8.

• Lazzer, S., Grugni, G., Tringali, G., & Sartorio, A. (2015). Prediction of basal metabolic rate in patients with Prader–Willi syndrome. European journal of clinical nutrition. 1-5.

• Michalik, M., Frask, A., Lech, P., Zdrojewski, M., & Doboszynska, A. (2015). The usefulness of biliopancreatic diversion/Scopinaro operation in treatment of patients with Prader-Willi syndrome. Videosurgery and Other Miniinvasive Techniques, 10(2), 324–327.

Genetics and brain imaging

• Anca, B. (2015). Comparative molecular approaches in Prader–Willi syndrome diagnosis. Gene. 575(2 Pt 1):353-8.

• Čalić, A., Peterlin, B.. (2105) Epigenetics and Bruxism: Possible Role of Epigenetics in the Etiology of Bruxism. Int J Prosthodont.;28(6):594-9. doi: 10.11607/ijp.4126.

• Falaleeva, M., Surface, J., Shen, M., de la Grange, P., & Stamm, S. (2015). SNORD116 and SNORD115 change expression of multiple genes and modify each other's activity. Gene. 57(2) 266–273.

• Glaspy, E., & Foge, J. (2015). Prader–Willi Syndrome: A Case Study and Parent Perspective. Advances in Neonatal Care, 15(4), 290-298.

• Lassi, G., Priano, L., Maggi, S., Garcia-Garcia, C., Balzani, E., El-Assawy, N., Pagani, M., Tinarelli, F., Giardino, D., Mauro, A., Peters, J., Gozzi, A., Grugni, G., Tucci, V. (2015) Deletion of the Snord116/SNORD116 Alters Sleep in Mice and Patients with Prader-Willi Syndrome. Sleep. 2015 Oct 5. pii: sp-00280-15. [Epub ahead of print]

• Liu, X., Tamada, K., Kishimoto, R., Okubo, H., Ise, S., Ohta, H., … Takumi, T. (2015). Transcriptome profiling of white adipose tissue in a mouse model for 15q duplication syndrome. Genomics Data, 5, 394–396. http://doi.org/10.1016/j.gdata.2015.06.035

• Liu, W., Zhang, R., Wei, J., Zhang, H., Yu, G., Li, Z., ... & Sun, X. (2015). Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays. Cytogenetic and genome research, 146(1), 9-18.

• Manning, K., E., & Holland, A., J. (2015). Puzzle Pieces: Neural Structure and Function in Prader-Willi Syndrome. Diseases, 3(4), 382–415.

• Matsubara, K., Murakami, N., Fukami, M., Kagami, M., Nagai, T. and Ogata, T. (2015). Risk assessment of medically assisted reproduction and advanced maternal ages in the development of Prader–Willi syndrome due to UPD(15)mat. Clinical Genetics. doi: 10.1111/cge.12691

• Mejlachowicz, D., Nolent, F., Maluenda, J., Ranjatoelina-Randrianaivo, H., Giuliano, F., Gut, I., ... & Melki, J. (2015). Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis. The American Journal of Human Genetics, 97(4), 616-620. Tauber, M., Thuilleaux, D., Bieth, É. [Prader-Willi syndrome in 2015]. [Article in French] Med Sci (Paris). 2015 Oct;31(10):853-60. doi: 10.1051/medsci/20153110011. Epub 2015 Oct 19.

• Zieba, J., Low, J. K., Purtell, L., Qi, Y., Campbell, L., Herzog, H., & Karl, T. (2015). Behavioural characteristics of the Prader–Willi syndrome related biallelic Snord116 mouse model. Neuropeptides. 53, 71–77.

Sensory and physical

• Bingeliene, A., Shapiro, C.M., Chung, S.,A. Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome. (2015) Case Rep Neurol Med.;2015:278287. Epub 2015 Nov 3.

• Giordano, L., Toma, S., Palonta, F., Teggi, R., Zucconi, M., Di Candia, S., & Bussi, M. (2015). Obstructive sleep apnea in Prader-Willi syndrome: risks and advantages of adenotonsillectomy. La Pediatria Medica e Chirurgica, 37(2).