Bardet-Biedl syndrome 

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations 

Dollfus, H. Lilien, M.R., Maffei, P. et al 

European Journal of Human Genetics,  31 July 2024

Growth

• Read guideline on the Diagnosis and Management of Prader-Willi Syndrome

  A. P. Goldstone, A. J. Holland, B. P. Hauffa, A. C. Hokken-Koelega & M. Tauber and on behalf of speakers contributors at the Second Expert Meeting of the Comprehensive Care of Patients with PWS ( August 12, 2008)
  Journal of Clinical Endocrinology & Metabolism 2008 93:4183-4197

Obesity & Metabolism

• Read guideline on the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome

  Eggermann K, Bliek J, Brioude F, Algar E, Buiting K, Russo S, Tümer Z… & Eggermann T (2016)
  European Journal of Human Genetics, Volume 24, pages 1377–1387

Consensus Statements

Growth

• Consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome

  Cheri L Deal, Michèle Tony, Charlotte Höybye, David B. Allen, Maïthé Tauber, Jens Sandahl Christiansen, and the 2011 GH in PWS Clinical Care Guidelines Workshop Participants. (March 29, 2013)
  Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2012-3888

Obesity & Metabolism

• Diagnosis and management of Silver–Russell syndrome: first international consensus statement

  Emma L. Wakeling, Frédéric Brioude, Oluwakemi Lokulo-Sodipe, Susan M. O’Connell, Jennifer Salem, Jet Bliek, Ana P. M. Canton… & Irène Netchine (2017)
  Nature Reviews Endocrinology, Volume 13, 105–124

• Bridging the gap: metabolic and endocrine care of patients during transition

  Hokken-Koelega A, van der Lely AJ, Hauffa B, Häusler G, Johannsson G, Maghnie M, Argente J… Tauber M (November, 2016)
  Endocrine Connections, 5(6): R44–R54. doi: 10.1530/EC-16-0028