Mutations in the β-Tubulin Gene TUBB5 Cause Microcephaly with Structural Brain Abnormalities
Breuss, Martin, Heng, Julian Ik-Tsen, Poirier, Karine, Tian, Guoling, Jaglin, Xavier Hubert, Qu, Zhengdong, Braun, Andreas, Gstrein, Thomas, Ngo, Linh, Haas, Matilda, Bahi-Buisson, Nadia, Moutard, Marie-Laure, Passemard, Sandrine, Verloes, Alain, Gressens, Pierre, Xie, Yunli, Robson, Kathryn J.H., Rani, Deepa Selvi, Thangaraj, Kumarasamy, Clausen, Tim, Chelly, Jamel, Cowan, Nicholas Justin, Keays, David Anthony
Published in Cell reports (Cambridge) (27.12.2012)
Published in Cell reports (Cambridge) (27.12.2012)
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TRAP is necessary for gliding motility and infectivity of plasmodium sporozoites
Sultan, A A, Thathy, V, Frevert, U, Robson, K J, Crisanti, A, Nussenzweig, V, Nussenzweig, R S, Ménard, R
Published in Cell (08.08.1997)
Published in Cell (08.08.1997)
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The A-domain and the thrombospondin-related motif of Plasmodium falciparum TRAP are implicated in the invasion process of mosquito salivary glands
Wengelnik, Kai, Spaccapelo, Roberta, Naitza, Silvia, Robson, Kathryn J.H., Janse, Chris J., Bistoni, Francesco, Waters, Andrew P., Crisanti, Andrea
Published in The EMBO journal (01.10.1999)
Published in The EMBO journal (01.10.1999)
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Iron overload in the Asian community
Lok, Chun Yu, Merryweather-Clarke, Alison T., Viprakasit, Vip, Chinthammitr, Yingyong, Srichairatanakool, Somdet, Limwongse, Chanin, Oleesky, David, Robins, Anthony J., Hudson, John, Wai, Phyu, Premawardhena, Anuja, de Silva, H. Janaka, Dassanayake, Anuradha, McKeown, Carole, Jackson, Maurice, Gama, Rousseau, Khan, Nasaim, Newman, William, Banait, Gurvinder, Chilton, Andrew, Wilson-Morkeh, Isaac, Weatherall, David J., Robson, Kathryn J.H.
Published in Blood (02.07.2009)
Published in Blood (02.07.2009)
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A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations
Merryweather-Clarke, Alison T., Siimonsen, Henrik, Shearman, Jeremy D., Pointon, Jennifer J., Nørgaard-Pedersen, Bent, Robson, Kathryn J.H.
Published in Human mutation (1999)
Published in Human mutation (1999)
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Hemochromatosis gene ( HFE) mutations in South East Asia: a potential for iron overload
Pointon, Jennifer J, Viprakasit, Vip, Miles, Katie L, Livesey, Karen J, Steiner, Michael, O’Riordan, Sean, Hien, Tran T, Merryweather-Clarke, Alison T, Robson, Kathryn J.H
Published in Blood cells, molecules, & diseases (01.05.2003)
Published in Blood cells, molecules, & diseases (01.05.2003)
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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results
Coppin, Hélène, Totaro, Angela, Gasparini, Paolo, Worwood, Mark, Darke, Chris, Rochette, Jacques, Shearman, Jeremy D, Mosser, Annick, Elsey, Terence S, Dooley, James S, David, Véronique, Vandwalle, Jean Luc, Ryan, Eleanor, Borot, Nicolas, Roetto, Antonella, Robson, Kathryn J.H, Crowe, John, Walker, Ann P, Cox, Timothy M, Clare, Michael, Kelly, Alison, Roth, Marie-Paule, Jouanolle, Anne Marie, Bomford, Adrian, Camaschella, Clara, Wallace, Daniel F, Le Gall, Jean-Yves, Pointon, Jennifer J, Halsall, David J, Merryweather-Clarke, Alison T, Saeb-Parsy, Kasra
Published in Nature genetics (01.11.1999)
Published in Nature genetics (01.11.1999)
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Global gene expression analysis of human erythroid progenitors
Merryweather-Clarke, Alison T., Atzberger, Ann, Soneji, Shamit, Gray, Nicki, Clark, Kevin, Waugh, Craig, McGowan, Simon J., Taylor, Stephen, Nandi, Asoke K., Wood, William G., Roberts, David J., Higgs, Douglas R., Buckle, Veronica J., Robson, Kathryn J.H.
Published in Blood (31.03.2011)
Published in Blood (31.03.2011)
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Distinct gene expression program dynamics during erythropoiesis from human induced pluripotent stem cells compared with adult and cord blood progenitors
Merryweather-Clarke, Alison T, Tipping, Alex J, Lamikanra, Abigail A, Fa, Rui, Abu-Jamous, Basel, Tsang, Hoi Pat, Carpenter, Lee, Robson, Kathryn J H, Nandi, Asoke K, Roberts, David J
Published in BMC genomics (21.10.2016)
Published in BMC genomics (21.10.2016)
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Resistance to hepcidin is conferred by hemochromatosis-associated mutations of ferroportin
Drakesmith, Hal, Schimanski, Lisa M., Ormerod, Emma, Merryweather-Clarke, Alison T., Viprakasit, Vip, Edwards, Jon P., Sweetland, Emma, Bastin, Judy M., Cowley, Diana, Chinthammitr, Yingyong, Robson, Kathryn J.H., Townsend, Alain R.M.
Published in Blood (01.08.2005)
Published in Blood (01.08.2005)
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Recombinant vaccinia viruses for the characterization of Plasmodium falciparum-specific cytotoxic T lymphocytes: recognition of processed antigen despite limited re-stimulation efficacy
Aidoo, M, Lalvani, A, Whittle, H C, Hill, A V, Robson, K J
Published in International immunology (01.05.1997)
Published in International immunology (01.05.1997)
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In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations
Schimanski, Lisa M., Drakesmith, Hal, Merryweather-Clarke, Alison T., Viprakasit, Vip, Edwards, Jon P., Sweetland, Emma, Bastin, Judy M., Cowley, Diana, Chinthammitr, Yingyong, Robson, Kathryn J.H., Townsend, Alain R.M.
Published in Blood (15.05.2005)
Published in Blood (15.05.2005)
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Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis
Merryweather-Clarke, Alison T., Cadet, Estelle, Bomford, Adrian, Capron, Dominique, Viprakasit, Vip, Miller, Anne, McHugh, Paddy J., Chapman, Roger W., Pointon, Jennifer J., Wimhurst, Victoria L.C., Livesey, Karen J., Tanphaichitr, Voravarn, Rochette, Jacques, Robson, Kathryn J.H.
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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Global prevalence of putative haemochromatosis mutations
Merryweather-Clarke, A T, Pointon, J J, Shearman, J D, Robson, K J
Published in Journal of medical genetics (01.04.1997)
Published in Journal of medical genetics (01.04.1997)
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A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4?
Roetto, Antonella, Merryweather-Clarke, Alison T., Daraio, Filomena, Livesey, Karen, Pointon, Jennifer J., Barbabietola, Giuliana, Piga, Antonio, Mackie, Peter H., Robson, Kathryn J.H., Camaschella, Clara
Published in Blood (15.07.2002)
Published in Blood (15.07.2002)
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More microsatellite markers around D6S105
Pointon, Jennifer J, Stone, Caroline, Shearman, Jeremy D, Merryweather-Clarke, Alison T, Rosenberg, William M, Robson, Kathryn J.H
Published in Molecular and cellular probes (01.06.1998)
Published in Molecular and cellular probes (01.06.1998)
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