Phenotypic variability of CCDC103 mutation in British Pakistani children with Primary Ciliary Dyskinesia (PCD)

por Robson, E, Moya, E, Burgoyne, T, Chetcuti, P, Dixon, M, Hirst, R, Hogg, C, Mitchison, H, O'Callaghan, C, Onoufriadis, A, Patel, M, Rutman, A, Sheridan, E, Shoemark, A
Publicado 2015

Mutations in CCDC39 and CCDC40 are a major cause of primary ciliary dyskinesia with microtubule disorganisation

por Antony, D, Becker-Heck, A, Forouhan, M, Schmidts, M, Onoufriadis, A, Shoemark, A, Dixon, M, Jackson, C, Goggin, P, Olbrich, H, O’Callaghan, C, Lucas, J, Hogg, C, Chung, EMK, Omran, H, Mitchison, HM
Publicado 2012

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

por Irving, S., Dixon, M., Fassad, M. R., Frost, E., Hayward, J., Kilpin, K., Ollosson, S., Onoufriadis, A., Patel, M. P., Scully, J., Carr, S. B., Mitchison, H. M., Loebinger, M. R., Hogg, C., Shoemark, A., Bush, A.
Publicado 2018

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151

por Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H
Publicado 2015