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Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E
Published in Nature genetics (01.08.2006)
Published in Nature genetics (01.08.2006)
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PMS2 Mutations in Childhood Cancer
De Vos, Michel, Hayward, Bruce E., Charlton, Ruth, Taylor, Graham R., Glaser, Adam W., Picton, Susan, Cole, Trevor R., Maher, Eamonn R., McKeown, Carole M. E., Mann, Jill R., Yates, John R., Baralle, Diana, Rankin, Julia, Bonthron, David T., Sheridan, Eamonn
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
Published in JNCI : Journal of the National Cancer Institute (01.03.2006)
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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 Germline Mutation in BLOC1S3/ Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)
Morgan, Neil V., Pasha, Shanaz, Johnson, Colin A., Ainsworth, John R., Eady, Robin A.J., Dawood, Ban, McKeown, Carole, Trembath, Richard C., Wilde, Jonathan, Watson, Steve P., Maher, Eamonn R.
Published in American journal of human genetics (01.01.2006)
Published in American journal of human genetics (01.01.2006)
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An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function
Caronia, Giuliana, Goodman, Frances R, McKeown, Carole M E, Scambler, Peter J, Zappavigna, Vincenzo
Published in Development (Cambridge) (15.04.2003)
Published in Development (Cambridge) (15.04.2003)
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Mutations in the human Delta homologue, DLL3 , cause axial skeletal defects in spondylocostal dysostosis
Bulman, Michael P, Hattersley, Andrew T, Kusumi, Kenro, Turnpenny, Peter D, Frayling, Timothy M, Lander, Eric S, Ellard, Sian, Krumlauf, Robb, McKeown, Carole, Garrett, Christine
Published in Nature genetics (01.04.2000)
Published in Nature genetics (01.04.2000)
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Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
Wallis, Yvonne L, Morton, Dion G, McKeown, Carole M, Macdonald, Fiona
Published in Journal of medical genetics (01.01.1999)
Published in Journal of medical genetics (01.01.1999)
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PPIB Mutations Cause Severe Osteogenesis Imperfecta
van Dijk, Fleur S., Nesbitt, Isabel M., Zwikstra, Eline H., Nikkels, Peter G.J., Piersma, Sander R., Fratantoni, Silvina A., Jimenez, Connie R., Huizer, Margriet, Morsman, Alice C., Cobben, Jan M., van Roij, Mirjam H.H., Elting, Mariet W., Verbeke, Jonathan I.M.L., Wijnaendts, Liliane C.D., Shaw, Nick J., Högler, Wolfgang, McKeown, Carole, Sistermans, Erik A., Dalton, Ann, Meijers-Heijboer, Hanne, Pals, Gerard
Published in American journal of human genetics (09.10.2009)
Published in American journal of human genetics (09.10.2009)
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Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
White, Kenneth E., Cabral, Jose M., Davis, Siobhan I., Fishburn, Tonya, Evans, Wayne E., Ichikawa, Shoji, Fields, Joanna, Yu, Xijie, Shaw, Nick J., McLellan, Neil J., McKeown, Carole, FitzPatrick, David, Yu, Kai, Ornitz, David M., Econs, Michael J.
Published in American journal of human genetics (01.02.2005)
Published in American journal of human genetics (01.02.2005)
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Age at Menarche and Menopause and Breast Cancer Risk in the International BRCA1/2 Carrier Cohort Study
CHANG-CLAUDE, Jenny, ANDRIEU, Nadine, LUPORSI, Elisabeth, HUIART, Laetitia, HOOGERBRUGGE, Nicoline, VAN LEEUWEN, Flora E, OSORIO, Ana, EYFJORD, Jorunn, RADICE, Paolo, GOLDGAR, David E, EASTON, Douglas F, ROOKUS, Matti, BROHET, Richard, ANTONIOU, Antonis C, PEOCK, Susan, DAVIDSON, Rosemarie, IZATT, Louise, COLE, Trevor, NOGUES, Catherine
Published in Cancer epidemiology, biomarkers & prevention (01.04.2007)
Published in Cancer epidemiology, biomarkers & prevention (01.04.2007)
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Mosaic trisomy 1q: The longest surviving case
Patel, Chirag, Hardy, Graham, Cox, Phillip, Bowdin, Sarah, McKeown, Carole, Russell, Alison Bedford
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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FG syndrome, an X-linked multiple congenital anomaly syndrome: The clinical phenotype and an algorithm for diagnostic testing
Clark, Robin Dawn, Graham, John M, Friez, Michael J, Hoo, Joe J, Jones, Kenneth Lyons, McKeown, Carole, Moeschler, John B, Raymond, F Lucy, Rogers, R Curtis, Schwartz, Charles E, Battaglia, Agatino, Lyons, Michael J, Stevenson, Roger E
Published in Genetics in medicine (01.11.2009)
Published in Genetics in medicine (01.11.2009)
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Germline E-cadherin Gene (CDH1) Mutations Predispose to Familial Gastric Cancer and Colorectal Cancer
Richards, Frances M., McKee, Shane A., Rajpar, M. Helen, Cole, Trevor R. P., Evans, D. Gareth R., Jankowski, Janusz A., McKeown, Carole, Sanders, D. Scott A., Maher, Eamonn R.
Published in Human molecular genetics (01.04.1999)
Published in Human molecular genetics (01.04.1999)
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Familial multiple pterygium syndrome (MPS) is not associated with CHRNG gene mutation
Prontera, Paolo, Vogt, Julie, McKeown, Carole, Sensi, Alberto
Published in American journal of medical genetics. Part A (15.05.2007)
Published in American journal of medical genetics. Part A (15.05.2007)
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Phenotypic Variability and Asymmetry of Rieger Syndrome Associated with PITX2 Mutations
Perveen, Rahat, Lloyd, I. Christopher, Clayton-Smith, Jill, Churchill, Amanda, van Heyningen, Veronica, Hanson, Isabel, Taylor, David, McKeown, Carole, Super, Maurice, Kerr, Bronwyn, Winter, Robin, Black, Graeme C. M
Published in Investigative ophthalmology & visual science (01.08.2000)
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Published in Investigative ophthalmology & visual science (01.08.2000)
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Peutz-Jeghers disease: most, but not all, families are compatible with linkage to 19p13.3
Olschwang, S, Markie, D, Seal, S, Neale, K, Phillips, R, Cottrell, S, Ellis, I, Hodgson, S, Zauber, P, Spigelman, A, Iwama, T, Loff, S, McKeown, C, Marchese, C, Sampson, J, Davies, S, Talbot, I, Wyke, J, Thomas, G, Bodmer, W, Hemminki, A, Avizienyte, E, de la Chapelle, A, Aaltonen, L, Tomlinson, I
Published in Journal of medical genetics (01.01.1998)
Published in Journal of medical genetics (01.01.1998)
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