Latest PWS Research Papers |
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Our team from Cambridge University, UK, has put together the next series of published research in the PW world. Please read, share, download, and add to your knowledge! There is a large number of papers this time; all abstracts can be downloaded from our website Scroll down to the April to June 2015 papers. The full papers can also be accessed here. |
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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.
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