CILIA2012: Cilia in development and disease

Por Mitchison, Hannah M, Beales, Philip L
Publicado em 2012

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models

Por Chan, Chun-Hung, Mitchison, Hannah M., Pearce, David A.
Publicado em 2008

Diagnosis and management of primary ciliary dyskinesia

Por Lucas, Jane S, Burgess, Andrea, Mitchison, Hannah M, Moya, Eduardo, Williamson, Michael, Hogg, Claire
Publicado em 2014

Primary ciliary dyskinesia (Siewert's / Kartagener's Syndrome): Respiratory symptoms and psycho-social impact

Por McManus, I Christopher, Mitchison, Hannah M, Chung, Eddie MK, Stubbings, Georgina F, Martin, Naomi
Publicado em 2003

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families

Por Reish, Orit, Slatkin, Montgomery, Chapman-Shimshoni, Daphne, Elizur, Arnon, Chioza, Barry, Castleman, Victoria, Mitchison, Hannah M.
Publicado em 2010

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3(Δex1-6) mice modelling juvenile neuronal ceroid lipofuscinosis (Batten dise...

Por Wavre-Shapton, Silène T., Calvi, Alessandra A., Turmaine, Mark, Seabra, Miguel C., Cutler, Daniel F., Futter, Clare E., Mitchison, Hannah M.
Publicado no Hum Mol Genet (2015)

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

Por Salek, Reza M., Pears, Michael R., Cooper, Jonathan D., Mitchison, Hannah M., Pearce, David A., Mortishire-Smith, Russell J., Griffin, Julian L.
Publicado em 2011

Primary ciliary dyskinesia: current state of the art

Por Bush, Andrew, Chodhari, Rahul, Collins, Nicola, Copeland, Fiona, Hall, Pippa, Harcourt, Jonny, Hariri, Mohamed, Hogg, Claire, Lucas, Jane, Mitchison, Hannah M, O'Callaghan, Christopher, Phillips, Gill
Publicado em 2007

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

Por Benmerah, Alexandre, Durand, Bénédicte, Giles, Rachel H, Harris, Tess, Kohl, Linda, Laclef, Christine, Meilhac, Sigolène M, Mitchison, Hannah M, Pedersen, Lotte B, Roepman, Ronald, Swoboda, Peter, Ueffing, Marius, Bastin, Philippe
Publicado no Cilia (2015)

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Por Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M., Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Alkuraya, Fowzan S.
Publicado no Hum Mol Genet (2015)

Genome-wide High-Density SNP-Based Linkage Analysis of Infantile Hypertrophic Pyloric Stenosis Identifies Loci on Chromosomes 11q14-q22 and Xq23

Por Everett, Kate V., Chioza, Barry A., Georgoula, Christina, Reece, Ashley, Capon, Francesca, Parker, Keith A., Cord-Udy, Cathy, McKeigue, Paul, Mitton, Sally, Pierro, Agostino, Puri, Prem, Mitchison, Hannah M., Chung, Eddie M.K., Gardiner, R. Mark
Publicado em 2008

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia

Por Bartoloni, Lucia, Blouin, Jean-Louis, Pan, Yanzhen, Gehrig, Corinne, Maiti, Amit K., Scamuffa, Nathalie, Rossier, Colette, Jorissen, Mark, Armengot, Miguel, Meeks, Maggie, Mitchison, Hannah M., Chung, Eddie M. K., Delozier-Blanchet, Celia D., Craigen, William J., Antonarakis, Stylianos E.
Publicado em 2002

Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia

Por Mitchison, Hannah M., Schmidts, Miriam, Loges, Niki T., Freshour, Judy, Dritsoula, Athina, Hirst, Rob A., O’Callaghan, Christopher, Blau, Hannah, Dabbagh, Maha Al, Olbrich, Heike, Beales, Philip L., Yagi, Toshiki, Mussaffi, Huda, Chung, Eddie M.K., Omran, Heymut, Mitchell, David R.
Publicado em 2012

Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia

Por Onoufriadis, Alexandros, Paff, Tamara, Antony, Dinu, Shoemark, Amelia, Micha, Dimitra, Kuyt, Bertus, Schmidts, Miriam, Petridi, Stavroula, Dankert-Roelse, Jeanette E., Haarman, Eric G., Daniels, Johannes M.A., Emes, Richard D., Wilson, Robert, Hogg, Claire, Scambler, Peter J., Chung, Eddie M.K., Pals, Gerard, Mitchison, Hannah M.
Publicado em 2013

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

Por McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol
Publicado em 2013

DNAI2 Mutations Cause Primary Ciliary Dyskinesia with Defects in the Outer Dynein Arm

Por Loges, Niki Tomas, Olbrich, Heike, Fenske, Lale, Mussaffi, Huda, Horvath, Judit, Fliegauf, Manfred, Kuhl, Heiner, Baktai, Gyorgy, Peterffy, Erzsebet, Chodhari, Rahul, Chung, Eddie M.K., Rutman, Andrew, O'Callaghan, Christopher, Blau, Hannah, Tiszlavicz, Laszlo, Voelkel, Katarzyna, Witt, Michal, Ziętkiewicz, Ewa, Neesen, Juergen, Reinhardt, Richard, Mitchison, Hannah M., Omran, Heymut
Publicado em 2008

Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry

Por Olbrich, Heike, Schmidts, Miriam, Werner, Claudius, Onoufriadis, Alexandros, Loges, Niki T., Raidt, Johanna, Banki, Nora Fanni, Shoemark, Amelia, Burgoyne, Tom, Al Turki, Saeed, Hurles, Matthew E., Köhler, Gabriele, Schroeder, Josef, Nürnberg, Gudrun, Nürnberg, Peter, Chung, Eddie M.K., Reinhardt, Richard, Marthin, June K., Nielsen, Kim G., Mitchison, Hannah M., Omran, Heymut
Publicado em 2012

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

Por Onoufriadis, Alexandros, Shoemark, Amelia, Munye, Mustafa M, James, Chela T, Schmidts, Miriam, Patel, Mitali, Rosser, Elisabeth M, Bacchelli, Chiara, Beales, Philip L, Scambler, Peter J, Hart, Stephen L, Danke-Roelse, Jeannette E, Sloper, John J, Hull, Sarah, Hogg, Claire, Emes, Richard D, Pals, Gerard, Moore, Anthony T, Chung, Eddie M K, Mitchison, Hannah M
Publicado em 2014

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

Por Onoufriadis, Alexandros, Shoemark, Amelia, Schmidts, Miriam, Patel, Mitali, Jimenez, Gina, Liu, Hui, Thomas, Biju, Dixon, Mellisa, Hirst, Robert A., Rutman, Andrew, Burgoyne, Thomas, Williams, Christopher, Scully, Juliet, Bolard, Florence, Lafitte, Jean-Jacques, Beales, Philip L., Hogg, Claire, Yang, Pinfen, Chung, Eddie M.K., Emes, Richard D., O'Callaghan, Christopher, Bouvagnet, Patrice, Mitchison, Hannah M.
Publicado em 2014

HEATR2 Plays a Conserved Role in Assembly of the Ciliary Motile Apparatus

Por Diggle, Christine P., Moore, Daniel J., Mali, Girish, zur Lage, Petra, Ait-Lounis, Aouatef, Schmidts, Miriam, Shoemark, Amelia, Garcia Munoz, Amaya, Halachev, Mihail R., Gautier, Philippe, Yeyati, Patricia L., Bonthron, David T., Carr, Ian M., Hayward, Bruce, Markham, Alexander F., Hope, Jilly E., von Kriegsheim, Alex, Mitchison, Hannah M., Jackson, Ian J., Durand, Bénédicte, Reith, Walter, Sheridan, Eamonn, Jarman, Andrew P., Mill, Pleasantine
Publicado em 2014