Zobrazeno 1 - 2
of 2
pro vyhledávání: '"coats plu"'
Autor:
Calvin Soh, Sophie Calvert, Ram L. Kumar, Isabelle Desguerre, Kevin Talbot, Evangeline Wassmer, Axel Panzer, Andrea Berger, Anna de Burca, Anu Jacob, Andrea Whitney, Andrew P. Badrock, Frances Gibbon, Shelley MacDonald, Rhys H. Thomas, Reza Maroofian, Heather Burnett, Elizabeth Jones, Thomas Blauwblomme, Francois V. Bolduc, Jamal Ghoumid, Mickaël Ferrand, Yanick J. Crow, Emma M. Jenkinson, Camilo Toro, Diana Chiang, Roseline Caumes, Gillian I. Rice, Gemma Fisher, Gopinath M. Subramanian, Edoardo Monfrini, Renaud Touraine, Hilde T. Hilmarsen, Sarju G. Mehta, Imelda Hughes, Sumit Parikh, Edward Blair, Mary O'Driscoll, Sarah Dyack, Himanshu Goel, Kristin W. Barañano, Prab Prabhakar, Luis Seabra, Roberta Battini, John H. Livingston, Russell P. Saneto, Richard J. Leventer, Katrin Õunap, Heather Marshall, Andy Cheuk Him Ng, Duccio Maria Cordelli, Natasha Demic, Daniela Neumann, Natalie Boddaert, Michael J. Noetzel, S. Richard Dunham, Ehsan Ghayoor Karimiani, Johannes A. Buckard, Frances Elmslie, Raymond T. O'Keefe, Chloe A Stutterd, Richard Sandford, Imke Metz, Francis Ramond, Liesbeth De Waele, Alessio Di Fonzo, Emma Wakeling, David B. Clifford
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding genes, and the hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f2d9de564df3de6329454df9c446972
http://hdl.handle.net/11585/786787
http://hdl.handle.net/11585/786787
Autor:
Andrea Berger, Katrin Õunap, Paul R. Kasher, Yanick J. Crow, Emma M. Jenkinson, Duccio Maria Cordelli, Emma Wakeling, Helen Stewart, Andrea Whitney, John H. Livingston, Calvin Soh, Patrick Ferreira, Christine E. G. van Mol, Staffan Lundberg, Stavros Stivaros, Josephine Mayer, Rosalind J. Jefferson, Prab Prabhakar, Jon Stone, Georg Kutschke, Gillian I. Rice, Marjo S. van der Knaap, Hilda van Esch
Publikováno v:
Livingston, J H, Mayer, J, Jenkinson, E, Kasher, P, Stivaros, S, Berger, A, Cordelli, D M, Ferreira, P, Jefferson, R, Kutschke, G, Lundberg, S, Ounap, K, Prabhakar, P, Soh, C, Stewart, H, Stone, J, van der Knaap, M S, Van Esch, H, van Mol, C, Wakeling, E, Whitney, A, Rice, G I & Crow, Y J 2014, ' Leukoencephalopathy with Calcifications and Cysts: A Purely Neurological Disorder Distinct from Coats Plus ', Neuropediatrics, vol. 45, no. 3, pp. 175-182 . https://doi.org/10.1055/s-0033-1364180
Neuropediatrics, 45(3), 175-182. Hippokrates Verlag GmbH
Neuropediatrics, 45(3), 175-182. Hippokrates Verlag GmbH
Objective With the identification of mutations in the conserved telomere maintenance component 1 (CTC1) gene as the cause of Coats plus (CP) disease, it has become evident that leukoencephalopathy with calcifications and cysts (LCC) is a distinct gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::584ac8c5189b53dc358d84437f351361
https://research.vumc.nl/en/publications/fa53c7ca-9fcf-43c2-89b3-eeaa19ef4432
https://research.vumc.nl/en/publications/fa53c7ca-9fcf-43c2-89b3-eeaa19ef4432