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Article

Abramowicz, Iga, Carpenter, Gillian, Alfieri, Mariaevelina, Colnaghi, Rita, Outwin, Emily, Parent, Philippe, Thauvin-Robinet, Christel, Iaconis, Daniela, Franco, Brunella and O'Driscoll, Mark (2016) Oral-Facial-Digital syndrome Type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Human Molecular Genetics. ISSN 0964-6906

Stiff, Tom, Casar Tena, Teresa, O'Driscoll, Mark, Jeggo, Penny A and Philipp, Melanie (2016) ATR promotes cilia signalling: links to developmental impacts. Human Molecular Genetics, 25 (8). pp. 1574-1587. ISSN 0964-6906

Carroll, Jean, Page, Tristan K W, Chiang, Shih-Chieh, Kalmar, Bernadett, Bode, David, Greensmith, Linda, Mckinnon, Peter J, Thorpe, Julian R, Hafezparast, Majid and El-Khamisy, Sherif F (2015) Expression of a pathogenic mutation of SOD1 sensitizes aprataxin-deficient cells and mice to oxidative stress and triggers hallmarks of premature ageing. Human Molecular Genetics, 24 (3). pp. 828-40. ISSN 1460-2083

Orr, N, Dudbridge, F, Dryden, N, Maguire, S, Novo, D, Perrakis, E, Johnson, N, Ghoussaini, M, Hopper, J L, Southey, M C, Apicella, C, Stone, J, Schmidt, M K, Broeks, A, Van't Veer, L J, Hogervorst, F B, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Gibson, L, Aitken, Z, Warren, H, Sawyer, E, Tomlinson, I, Kerin, M J, Miller, N, Burwinkel, B, Marme, F, Schneeweiss, A, Sohn, C, Guénel, P, Truong, T, Cordina-Duverger, E, Sanchez, M, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Zamora, M P, Perez, J I A, Menéndez, P, Anton-Culver, H, Neuhausen, S L, Brenner, H, Dieffenbach, A K, Arndt, V, Stegmaier, C, Hamann, U, Brauch, H, Justenhoven, C, Brűning, T, Ko, Y-D, Nevanlinna, H, Aittomki, K, Blomqvist, C, Khan, S, Bogdanova, N, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J M, Chenevix-Trench, G, Beesley, J, Lambrechts, D, Moisse, M, Floris, G, Beuselinck, B, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Peissel, B, Pensotti, V, Couch, F J, Olson, J E, Slettedahl, S, Vachon, C, Giles, G G, Milne, R L, McLean, C, Haiman, C A, Henderson, B E, Schumacher, F, Le Marchand, L, Simard, J, Goldberg, M S, Labrèche, F, Dumont, M, Kristensen, V, Alnæs, G G, Nord, S, Borresen-Dale, A-L, Zheng, W, Deming-Halverson, S, Shrubsole, M, Long, J, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Grip, M, Andrulis, I L, Knight, J A, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, R A E M, Seynaeve, C M, Van Asperen, C J, Garcia-Closas, M, Figueroa, J., Chanock, S.J., Lissowska, J, Czene, K, Darabi, H, Eriksson, M, Klevebring, D, Hooning, M J, Hollestelle, A, Van Deurzen, C H M, Kriege, M, Hall, P, Li, J, Liu, J, Humphreys, K, Cox, A, Cross, S S, Reed, M, Pharoah, P D P, Dunning, A M, Shah, M, Perkins, B J, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Ashworth, A, Swerdlow, A, Jones, M, Schoemaker, M J, Meindl, A, Schmutzler, R K, Olswold, C, Slager, S, Toland, A E, Yannoukakos, D, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Matsuo, K, Ito, H, Iwata, H, Ishiguro, J, Wu, A H, Tseng, C-C, Van Den Berg, D, Stram, D O, Teo, S H, Yip, C H, Kang, P, Ikram, M K, Shu, X-O, Lu, W, Gao, Y-T, Cai, H, Kang, D, Choi, J-Y, Park, S K, Noh, D-Y, Hartman, M, Miao, H, Lim, W Y, Lee, S C, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Wu, P-E, Hou, M-F, Yu, J-C, Shen, C-Y, Blot, W., Cai, Q., Signorello, L B, Luccarini, C, Bayes, C, Ahmed, S, Maranian, M, Healey, C S, González-Neira, A, Pita, G, Rosario Alonso, M, Álvarez, N, Herrero, D, Tessier, D C, Vincent, D, Bacot, F, Hunter, D J, Lindstrom, S, Dennis, J, Michailidou, K, Bolla, M K, Easton, D F, Dos Santos Silva, I, Fletcher, O and Peto, J (2015) Fine-mapping identifies two additional breast cancer susceptibility loci at 9q31.2. Human Molecular Genetics, 24 (10). pp. 2966-2984. ISSN 0964-6906

Lin, W-Y, Camp, N J, Ghoussaini, M, Beesley, J, Michailidou, K, Hopper, J L, Apicella, C, Southey, M C, Stone, J, Schmidt, M K, Broeks, A, Van't Veer, L J, Th Rutgers, E J, Muir, K, Lophatananon, A, Stewart-Brown, S, Siriwanarangsan, P, Fasching, P A, Haeberle, L, Ekici, A B, Beckmann, M W, Peto, J, Dos-Santos-Silva, I, Fletcher, O, Johnson, N, Bolla, M K, Wang, Q, Dennis, J, Sawyer, E J, Cheng, T, Tomlinson, I, Kerin, M J, Miller, N, Marmé, F, Surowy, H M, Burwinkel, B, Guénel, P, Truong, T, Menegaux, F, Mulot, C, Bojesen, S E, Nordestgaard, B G, Nielsen, S F, Flyger, H, Benitez, J, Pilar Zamora, M, Perez, J I A, Menéndez, P, González-Neira, A, Pita, G, Rosario Alonso, M, Álvarez, N, Herrero, D, Anton-Culver, H, Brenner, H, Dieffenbach, A K, Arndt, V, Stegmaier, C, Meindl, A, Lichtner, P, Schmutzler, R K, Müller-Myhsok, B, Brauch, H, Brűning, T, Ko, Y-D, Tessier, D C, Vincent, D, Bacot, F, Nevanlinna, H, Aittomäki, K, Blomqvist, C, Khan, S, Matsuo, K, Ito, H, Iwata, H, Horio, A, Bogdanova, N V, Antonenkova, N N, Dörk, T, Lindblom, A, Margolin, S, Mannermaa, A, Kataja, V, Kosma, V-M, Hartikainen, J M, Wu, A H, Tseng, C-C, Van Den Berg, D, Stram, D O, Neven, P, Wauters, E, Wildiers, H, Lambrechts, D, Chang-Claude, J, Rudolph, A, Seibold, P, Flesch-Janys, D, Radice, P, Peterlongo, P, Manoukian, S, Bonanni, B, Couch, F J, Wang, X, Vachon, C, Purrington, K, Giles, G G, Milne, R L, Mclean, C, Haiman, C A, Henderson, B E, Schumacher, F, Marchand, L L, Simard, J, Goldberg, M S, Labrèche, F, Dumont, M, Teo, S H, Yip, C H, Hassan, N, Vithana, E N, Kristensen, V, Zheng, W, Deming-Halverson, S, Shrubsole, M J, Long, J, Winqvist, R, Pylkäs, K, Jukkola-Vuorinen, A, Kauppila, S, Andrulis, I L, Knight, J A, Glendon, G, Tchatchou, S, Devilee, P, Tollenaar, R A E M, Seynaeve, C, Van Asperen, C J, García-Closas, M, Figueroa, J, Lissowska, J, Brinton, L, Czene, K, Darabi, H, Eriksson, M, Brand, J S, Hooning, M J, Hollestelle, A, Van DenOuweland, A M W, Jager, A, Li, J, Liu, J, Humphreys, K, Shu, X-O, Lu, W, Gao, Y T, Cai, H, Cross, S S, Reed, M, Blot, W, Signorello, L B, Cai, Q, Pharoah, P D P, Perkins, B, Shah, M, Blows, F M, Kang, D, Yoo, K-Y, Noh, D-Y, Hartman, M, Miao, H, Chia, K S, Putti, T C, Hamann, U, Luccarini, C, Baynes, C, Ahmed, S, Maranian, M, Healey, C S, Jakubowska, A, Lubinski, J, Jaworska-Bieniek, K, Durda, K, Sangrajrang, S, Gaborieau, V, Brennan, P, Mckay, J, Slager, S, Toland, A E, Yannoukakos, D, Shen, C-Y, Hsiung, C-N, Wu, P-E, Ding, S-L, Ashworth, A, Jones, M, Orr, N, Swerdlow, A J, Tsimiklis, H, Makalic, E, Schmidt, D F, Bui, Q M, Chanock, S J, Hunter, D J, Hein, R, Dahmen, N, Beckmann, L, Aaltonen, K, Muranen, T A, Heikkinen, T, Irwanto, A, Rahman, N, Turnbull, C A, Waisfisz, Q, Meijers-Heijboer, H E J, Adank, M A, Van Der Luijt, R B, Hall, P, Chenevix-Trench, G, Dunning, A, Easton, D F and Cox, A (2015) Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. Human Molecular Genetics, 24 (1). pp. 285-298. ISSN 0964-6906

Legan, Kevin, Goodyear, Richard, Morin, Matias, Mencia, Angeles, Pollard, Hilary, Olavarrieta, Leticia, Korchagina, Julia Jurievna, Modiamo-Hoybjor, Silvia, Mayo, Fernando, Moreno, Felipe, Moreno-Pelayo, Miguel-Angel and Richardson, Guy (2013) Three deaf mice: mouse models for TECTA-based human hereditary deafness reveal domain-specific structural phenotypes in the tectorial membrane. Human Molecular Genetics, 23 (10). pp. 2551-2568. ISSN 0964-6906

Kerzendorfer, Claudia, Hannes, Femke, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian, Vermeesch, Joris Robert and O'Driscoll, Mark (2012) Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome. Human Molecular Genetics, 21 (10). pp. 2181-2193. ISSN 0964-6906

Kerzendorfer, C., Whibley, A., Carpenter, G., Outwin, E., Chiang, Shih-Chieh, Turner, G., Schwartz, C, El-Khamisy, S., Raymond, F.Lucy and O'Driscoll, M. (2010) Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks. Human Molecular Genetics, 19 (7). pp. 1324-1334. ISSN 0964-6906

Roux, Isabelle, Hosie, Suzanne, Johnson, Stuart L, Bahloul, Amel, Cayet, Nadège, Nouaille, Sylvie, Kros, Corné J, Petit, Christine and Safieddine, Saaid (2009) Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses. Human Molecular Genetics, 18 (23). pp. 4615-4628. ISSN 0964-6906

Morín, Matías, Bryan, Keith E, Mayo-Merino, Fernando, Goodyear, Richard, Mencía, Ángeles, Modamio-Høybjør, Silvia, del Castillo, Ignacio, Cabalka, Jessica M, Richardson, Guy, Moreno, Felipe, Rubenstein, Peter A and Moreno-Pelayo, Miguel Ángel (2009) In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Human Molecular Genetics, 18 (16). 075-3089. ISSN 0964-6906

Cohen-Woods, Sarah, Gaysina, Daria, Craddock, Nick, Farmer, Anne, Gray, Joanna, Gunasinghe, Cerisse, Hoda, Farzana, Jones, Lisa, Knight, Jo, Korszun, Ania, Owen, Michael J, Sterne, Abram, Craig, Ian W and McGuffin, Peter (2009) Depression Case Control (DeCC) Study fails to support involvement of the muscarinic acetylcholine receptor M2 (CHRM2) gene in recurrent major depressive disorder. Human Molecular Genetics, 18 (8). pp. 1504-1509. ISSN 0964-6906

Stiff, Thomas, Cerosaletti, K, Concannon, P, O'Driscoll, Mark and Jeggo, Penny (2008) Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1. Human Molecular Genetics, 17 (20). pp. 3247-3253. ISSN 09646906

Evans, Paul M, Woodbine, Lisa, Riballo, Enriquetta, Gennery, Andrew R, Hubank, Michael and Jeggo, Penny A (2006) Radiation-induced delayed cell death in a hypomorphic Artemis cell line. Human Molecular Genetics, 15 (8). pp. 1303-1311. ISSN 0964-6906

Delprat, Benjamin, Michel, Vincent, Goodyear, Richard, Yamasaki, Yasuhiro, Michalski, Nicolas, El-Amraoui, Aziz, Perfettini, Isabelle, Legrain, Pierre, Richardson, Guy, Hardelin, Jean-Pierre and Petit, Christine (2005) Myosin XVa and whirlin, two deafness gene products required for hair bundle growth, are located at the stereocilia tips and interact directly. Human Molecular Genetics, 14 (3). pp. 401-410. ISSN 0964-6906

Gissen, Paul, Johnson, Colin A, Gentle, Dean, Hurst, Laurence D, Doherty, Aidan J, O'Kane, Cahir J, Kelly, Deirdre A and Maher, Eamonn R (2005) Comparative evolutionary analysis of VPS33 homologues: genetic and functional insight. Human Molecular Genetics, 14 (10). pp. 1261-1270. ISSN 0964-6906

Gissen, Paul, Johnson, Colin A., Gentle, Dean, Hurst, Laurence D., Doherty, Aidan J., O'Kane, Cahir J., Kelly, Deirdre A. and Maher, Eamonn R. (2005) Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Human Molecular Genetics, 14 (10). pp. 1261-1270. ISSN 0964-6906

Nejentsev, Sergey, Godfrey, Lisa, Snook, Hywel, Rance, Helen, Nutland, Sarah, Walker, Neil M, Lam, Alex C, Guja, Cristian, Ionescu-Tirgoviste, Constantin, Undlien, Dag E, Rønningen, Kjersti S, Tuomilehto-Wolf, Eva, Tuomilehto, Jaakko, Newport, Melanie J, Clayton, David G and Todd, John A (2004) Comparative high-resolution analysis of linkage disequilibrium and tag single nucleotide polymorphisms between populations in the vitamin D receptor gene. Human Molecular Genetics, 13 (15). pp. 1633-9. ISSN 0964-6906

Girard, Pierre-Marie, Kysela, Boris, Harer, Christine J., Doherty, Aidan J. and Jeggo, Penny A. (2004) Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. Human Molecular Genetics, 13 (20). pp. 2369-76. ISSN 0964-6906

Girard, Pierre-Marie, Kysela, Boris, Härer, Christine J, Doherty, Aidan J and Jeggo, Penny A (2004) Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms. Human Molecular Genetics, 13 (20). pp. 2369-2376. ISSN 0964-6906

Alderton, G. K., Joenje, H., Varon, R., Borglum, A. D., Jeggo, P. A. and O'Driscoll, M. (2004) Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway. Human Molecular Genetics, 13. pp. 3127-3138. ISSN 1460-2083

Alderton, Gemma K, Joenje, Hans, Varon, Raymonda, Børglum, Anders D, Jeggo, Penny A and O'Driscoll, Mark (2004) Seckel syndrome exhibits cellular features demonstrating defects in the ATR signalling pathway. Human Molecular Genetics, 13(24). pp. 3127-3138. ISSN 0964-6906

Botta, Elena, Nardo, Tiziana, Lehmann, Alan R., Egly, Jean-Marc, Pedrini, Antonia M. and Stefanini, Miria (2002) Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Human Molecular Genetics, 11 (23). pp. 2919-2928. ISSN 0964-6906

Botta, Elena, Nardo, Tizinia, Lehmann, Alan R, Egly, Jean-Marc, Pedrini, Antonia M and Stefanini, Miria (2002) Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy. Human Molecular Genetics, 11 (23). pp. 2919-2928. ISSN 0964-6906

Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A. R. and Higgs, D. R. (2001) Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Human Molecular Genetics, 10 (24). pp. 2797-2802. ISSN 0964-6906

Viprakasit, Vip, Gibbons, Richard J, Broughton, Bernard C, Tolmie, John L, Brown, Donald, Lunt, Peter, Winter, Robin M, Marinoni, Stefano, Stefanini, Miria, Brueton, Louise, Lehmann, Alan R and Higgs, Douglas R (2001) Mutations in the general transcription factor TFIIH result in β-thalassaemia in individuals with trichothiodystrophy. Human Molecular Genetics, 10 (24). pp. 2797-2802. ISSN 0964-6906

Broughton, Bernard C, Berneburg, Mark, Fawcett, Heather, Taylor, Elaine M, Arlett, Colin F, Nardo, Tiziana, Stefanini, Miria, Menefee, Emory, Price, Vera H, Queille, Sophie, Sarasin, Alain, Bohnert, Elisabeth, Krutmann, Jean, Davidson, Rosemarie, Kraemer, Kenneth H and Lehmann, Alan R (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Human Molecular Genetics, 10 (22). pp. 2539-2547. ISSN 0964-6906

Broughton, Bernard C., Berneburg, Mark, Fawcett, Heather, Taylor, Elaine M., Arlett, Colin F., Nardo, Tiziana, Stefanini, Miria, Menefee, Emory, Price, Vera H., Queille, Sophie, Sarasin, Alain, Bohnert, Elisabeth, Krutmann, Jean, Davidson, Rosemarie, Kraemer, Kenneth H. and Lehmann, Alan R. (2001) Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Human Molecular Genetics, 10 (22). pp. 2539-2547. ISSN 0964-6906

This list was generated on Thu Mar 23 20:04:26 2017 GMT.