Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Autor: Muhammad Kassim Javaid, Alison Boyce, Natasha Appelman-Dijkstra, Juling Ong, Patrizia Defabianis, Amaka Offiah, Paul Arundel, Nick Shaw, Valter Dal Pos, Ann Underhil, Deanna Portero, Lisa Heral, Anne-Marie Heegaard, Laura Masi, Fergal Monsell, Robert Stanton, Pieter Durk Sander Dijkstra, Maria Luisa Brandi, Roland Chapurlat, Neveen Agnes Therese Hamdy, Michael Terrence Collins

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)

Abstract Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clin

Externí odkaz: https://doaj.org/article/bbcbbee103a0444987b518c3f8cf2459

Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium

Autor: Robert Stanton, N.A.T. Hamdy, Laura Masi, Roland Chapurlat, Patrizia Defabianis, Amaka C. Offiah, Lisa Heral, Anne-Marie Heegaard, Valter Dal Pos, Deanna Portero, Michael T. Collins, Muhammad Javaid, Paul Arunde, Juling Ong, Nick Shaw, Pieter Durk Sander Dijkstra, Fergal Monsell, Natasha M. Appelman-Dijkstra, Maria Luisa Brandi, Ann Underhil, Alison M. Boyce

Publikováno v: Javaid, M K, Boyce, A, Appelman-Dijkstra, N, Ong, J, Defabianis, P, Offiah, A, Arunde, P, Shaw, N, Dal Pos, V, Underhil, A, Portero, D, Heral, L, Heegaard, A-M, Masi, L, Monsell, F, Stanton, R, Dijkstra, P D S, Brandi, M L, Chapurlat, R, Hamdy, N A T & Collins, M T 2019, ' Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium ', Orphanet Journal of Rare Diseases, vol. 14, 139 . https://doi.org/10.1186/s13023-019-1102-9
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-17 (2019)
Javaid, M K, Boyce, A, Appelman-Dijkstra, N, Ong, J, Defabianis, P, Offiah, A, Arunde, P, Shaw, N, Pos, V D, Underhil, A, Portero, D, Heral, L, Heegaard, A M, Masi, L, Monsell, F, Stanton, R, Dijkstra, P D S, Brandi, M L, Chapurlat, R, Hamdy, N A T & Collins, M T 2019, ' Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome : A consensus statement from the FD/MAS international consortium ', Orphanet Journal of Rare Diseases, vol. 14, no. 1, 139 . https://doi.org/10.1186/s13023-019-1102-9
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 14. BMC

Fibrous Dysplasia / McCune Albright syndrome (FD/MAS) represents a wide spectrum of diseases due to somatic gain-of-function mutations of the GNAS gene. The mutation leads to overactivity in the target tissues and to a wide phenotype of clinical feat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ec3552707c3ef7c1e29215b7749f007
https://curis.ku.dk/ws/files/227749837/s13023_019_1102_9.pdf

Next-generation site-directed transgenesis in the malaria vector mosquito Anopheles gambiae: self-docking strains expressing germline-specific phiC31 integrase.

Autor: Janet M Meredith, Ann Underhill, Clare C McArthur, Paul Eggleston

Publikováno v: PLoS ONE, Vol 8, Iss 3, p e59264 (2013)

Diseases transmitted by mosquitoes have a devastating impact on global health and the situation is complicated due to difficulties with both existing control measures and the impact of climate change. Genetically modified mosquitoes that are refracto

Externí odkaz: https://doaj.org/article/db3476cd867a43c1a8f7859497371793