Scientific publications
Articles
Bar C., Diene G., Molinas C., Bieth E., Casper C., Tauber M. Early diagnosis and care is achieved but should be improved in infants with Prader-Willi syndrome. Orphanet J Rare Dis. 2017 Jun 28;12(1):118
Cassidy, S.B., Schwartz, S., Miller, J.L., Driscoll, D.J., 2012. Prader-Willi syndrome. Genet Med. 14, 10-26.
Duis, J., van Wattum, P.J., Scheimann, A., Salehi, P., Brokamp, E., Fairbrother, L., Childers, A., Shelton, A.R., Bingham, N.C., Shoemaker, A.H., Miller, J.L., 2019. A multidisciplinary approach to the clinical management of Prader–Willi syndrome. Mol Genet Genomic Med 7, e514.
Dykens, E., Shah, B., 2003. Psychiatric disorders in Prader-Willi syndrome: epidemiology and management. CNS Drugs. 17, 167-78.
Goldstone, A.P., 2004. Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab. 15, 12-20.
Goldstone, A.P., Beales, P.L., 2008. Genetic obesity syndromes. Front Horm Res. 36, 37-60.
Gunay-Aygun, M., Schwartz, S., Heeger, S., O’Riordan, M.A., Cassidy, S.B., 2001. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics. 108, E92.
Holm, V.A., Cassidy, S.B., Butler, M.G., Hanchett, J.M., Greenswag, L.R., Whitman, B.Y., Greenberg,F., 1993. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics. 91, 398-402.
Höybye, C., Tauber, M., 2022. Approach to the Patient With Prader–Willi Syndrome. The Journal of Clinical Endocrinology & Metabolism 107, 1698–1705.
Kayadjanian, N., Schwartz, L., Farrar, E., Comtois, K.A., Strong, T.V., 2018. High levels of caregiver burden in Prader-Willi syndrome. PLoS ONE 13, e0194655.
Meade, C., Martin, R., McCrann, A., Lyons, J., Roche, E., 2021. Dietary intake and growth in children with Prader–Willi syndrome. J Hum Nutr Diet 34, 784–791.
Meziane H, Schaller F, Bauer S, et al., 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. Biological psychiatry; 78:85-94
Miller, J.L., Lynn, C.H., Driscoll, D.C., Goldstone, A.P., Gold, J.A., Kimonis, V., Dykens, E., Butler, M.G., Shuster, J.J., Driscoll, D.J., 2011. Nutritional phases in Prader-Willi syndrome. Am J Med Genet A. 155A, 1040-9.
Miller J, et al., 2012. Approach to the child with prader-willi syndrome. J Clin Endocrinol Metab. 97, 3837-44.
Muscatelli, F., Abrous, D.N., Massacrier, A., Boccaccio, I., Le Moal, M., Cau, P., Cremer, H., 2000. Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet. 9, 3101-10.
Nicholls, R.D., Knoll, J.H., Butler, M.G., Karam, S., Lalande, M., 1989. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature. 342, 281-5.
Nicholls, R.D., Knepper, J.L., 2001. Genome organization, function, and imprinting in Prader- Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2, 153-75.
Pacoricona Alfaro Dibia Liz Pacoricona, Lemoine P, Ehlinger V.2019 Causes of death in Prader-Willi syndrome: lessons from 11 years’ experience of a national reference center. Orphanet Journal of Rare Diseases (2019) 14:238
Salehi, P., Stafford, H., Glass, R., Leavitt, A., Beck, A., McAfee, A., 2017. Silent aspiration in infants with Prader-Willi Syndrome identified by videofluoroscopic swallow study. Medicine 96 :50
Schaller, F., Watrin, F., Sturny, R., Massacrier, A., Szepetowski, P., Muscatelli, F., 2010. A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene. Hum Mol Genet. 19, 4895-905.
Swaab, D.F., Purba, J.S., Hofman, M.A., 1995. Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases. J Clin Endocrinol Metab. 80, 573-9.
Tauber M., Boulanouar K., Diene G., et al., 2017. The Use of Oxytocin to Improve Feeding and Social Skills in Infants With Prader-Willi Syndrome. Pediatrics;139 (2).
Tauber M, Hoybye C. 2021. Endocrine disorders in Prader-Willi syndrome: a model to understand and treat hypothalamic dysfunction. The Lancet. DE-D-20-01059R2. S2213-8587(21)00002-4. Embargo: February 26, 2021.
Tauber M, Diene G, Fichaux-Bourin P, et al., 2026. Oxytocin in infants with Prader-Willi syndrome to improve dysphagia and disease trajectory. Orphanet Journal of Rare Diseases 21, 88.
Valette M, Diene G, Glattard M, Cortadellas J, et al. Early oxytocin treatment in infants with Prader-Willi syndrome is safe and is associated with better endocrine, metabolic and behavioral outcomes. Orphanet J Rare Dis. 2025 Mar;20(1):96.