Items for Fawcett, Heather

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Number of items: 8.

Article

Calmels, Nadege, Botta, Elena, Jia, Nan, Fawcett, Heather, Nardo, Tiziana, Nakazawa, Yuka, Lanzafame, Manuela, Moriwaki, Shinichi, Sugita, Katsuo, Kubota, Masaya, Orbinger, Cathy, Spitz, Marie-Aude, Stefanini, Miria, Laugel, Vincent, Orioli, Donata, Ogi, Tomoo and Lehmann, Alan Robert (2018) Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Journal of Medical Genetics, 55 (5). pp. 329-343. ISSN 0022-2593

Fassihi, Hiva, Sethi, Mieran, Fawcett, Heather, Wing, Jonathan, Chandler, Natalie, Mohammed, Shehla, Craythorne, Emma, Morley, Ana M S, Lim, Rongxuan, Turner, Sally, Henshaw, Tanya, Garrood, Isabel, Giunti, Paola, Hedderly, Tammy, Abiona, Adesoji, Naik, Harsha, Harrop, Gemma, McGibbon, David, Jaspers, Nicolaas G J, Botta, Elena, Nardo, Tiziana, Stefanini, Miria, Young, Antony R, Sarkany, Robert P E and Lehmann, Alan R (2016) Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proceedings of the National Academy of Sciences, 113 (9). E1236-E1245. ISSN 1091-6490

Sethi, Mieran, Hague, Shaheen, Fawcett, Heather, Wing, Jonathan F, Chandler, Natalie, Mohammed, Shehla, Frayling, Ian M, Norris, Paul G, McGibbon, David, Young, Antony R, Sarkany, Robert P E, Lehmann, Alan R and Fassihi, Hiva (2016) [Letter] A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in Northern India/ Pakistan/ Afghanistan. Journal Of Investigative Dermatology, 136 (4). pp. 869-872. ISSN 0022-202X

Guo, Chaowan, Nakazawa, Yuka, Woodbine, Lisa, Björkman, Andrea, Shimada, Mayuko, Fawcett, Heather, Jia, Nan, Ohyama, Kaname, Li, Tao-Sheng, Nagayama, Yuji, Mitsutake, Norisato, Pan-Hammarström, Qiang, Gennery, Andrew R, Lehmann, Alan R, Jeggo, Penny A and Ogi, Tomoo (2015) XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency. Journal of Allergy and Clinical Immunology, 136 (4). pp. 1007-1017. ISSN 0091-6749

Baple, Emma L, Chambers, Helen, Cross, Harold E, Fawcett, Heather, Nakazawa, Yuka, Chioza, Barry A, Harlalka, Gaurav V, Mansour, Sahar, Sreekantan-Nair, Ajith, Patton, Michael A, Muggenthaler, Martina, Rich, Phillip, Wagner, Karin, Coblentz, Roselyn, Stein, Constance K, Last, James I, Taylor, A Malcolm R, Jackson, Andrew P, Ogi, Tomoo, Lehmann, Alan R, Green, Catherine M and Crosby, Andrew H (2014) Hypomorphic PCNA mutation underlies a novel human DNA repair disorder. Journal of Clinical Investigation, 124 (7). pp. 3137-3146. ISSN 0021-9738

Laugel, V, Dalloz, C, Durand, M, Sauvanaud, F, Kristensen, U, Vincent, M C, Pasquier, L, Odent, S, Cormier-Daire, V, Gener, B, Tobias, E S, Tolmie, J L, Martin-Coignard, D, Drouin-Garraud, V, Heron, D, Journel, H, Raffo, E, Vigneron, J, Lyonnet, S, Murday, V, Gubser-Mercati, D, Funalot, B, Sanchez del Pozo, J, Muñoz, E, Gennery, A R, Salih, M, Noruzinia, M, Prescott, K, Ramos, L, Stark, Z, Fieggen, K, Chabrol, B, Sarda, P, Edery, P, Bloch-Zupan, A, Fawcett, H, Pham, D, Egly, J M, Lehmann, A R, Sarasin, A and Dollfus, H (2010) Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Human Mutation, 31 (2). pp. 113-126. ISSN 1059-7794

Limsirichaikul, Siripan, Niimi, Atsuko, Fawcett, Heather, Lehmann, Alan, Yamashita, Shunichi and Ogi, Tomoo (2009) A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of Ethynyl deoxyuridine (EdU). Nucleic Acids Research, 37 (4). ISSN 0305-1048

Broughton, Bernard C, Cordonnier, Agnes, Kleijer, Wim J, Jaspers, Nicolaas G J, Fawcett, Heather, Raams, Heather, Garritsen, Victor H., Stary, Anne, Avril, Marie-Francoise, Boudsocq, Francois, Masutani, Chikahide, Hanaoka, Fumio, Fuchs, Robert P, Sarasin, Alain and Lehmann, Alan R (2002) Molecular analysis of mutations in DNA polymerase η in xeroderma pigmentosum-variant patients. Proceedings of the National Academy of Sciences of the United States of America, 99 (2). pp. 815-820. ISSN 1091-6490

This list was generated on Mon Aug 20 06:44:36 2018 BST.