Scientific publications


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