Items where Subject is "RB127 Manifestations of disease"

Up a level
Export as [feed] RSS
Group by: Authors | Item Type
Number of items at this level: 23.

Article

Alcantara, Diana, Timms, Andrew E, Gripp, Karen, Baker, Laura, Park, Kaylee, Collins, Sarah, Cheng, Chi, Stewart, Fiona, Mehta, Sarju G, Saggar, Anand, Sztriha, László, Zombor, Melinda, Caluseriu, Oana, Mesterman, Ronit, Van Allen, Margot I, Jacquinet, Adeline, Ygberg, Sofia, Bernstein, Jonathan A, Wenger, Aaron M, Guturu, Harendra, Bejerano, Gill, Gomez-Ospina, Natalia, Lehman, Anna, Alfei, Enrico, Pantaleoni, Chiara, Conti, Valerio, Guerrini, Renzo, Moog, Ute, Graham Jr., John M, Hevner, Robert, Dobyns, William B, O'Driscoll, Mark and Mirzaa, Ghayda M (2017) Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly. Brain, 140 (10). pp. 2610-2622. ISSN 0006-8950

Clanchy, Felix I.L. and Sacre, Sandra M. (2010) Modulation of toll-like receptor function has therapeutic potential in autoimmune disease. Expert Opinion on Biological Therapy, 10 (12). pp. 1703-1716. ISSN 1471-2598

Dyment, David A, Smith, Amanda C, Alcantara, Diana, Schwartzentruber, Jeremy A, Basel-Vanagaite, Lina, Curry, Cynthia J, Temple, I Karen, Reardon, William, Mansour, Sahar, Haq, Mushfequr R, Gilbert, Rodney, Lehmann, Ordan J, Vanstone, Megan R, Beaulieu, Chandree L, FORGE Canada Consortium, , Majewski, Jacek, Bulman, Dennis E, O'Driscoll, Mark, Boycott, Kym M and Inness, A Micheil (2013) Mutations in PIK3R1 cause SHORT syndrome. American Journal of Human Genetics, 93 (1). pp. 158-166. ISSN 0002-9297

Fitzgerald, Brendan, O'Driscoll, Mark, Chong, Karen, Keating, Sarah and Shannon, Patrick (2012) Neuropathology of fetal stage Seckel syndrome: A case report providing a morphological correlate for the emerging molecular mechanisms. Brain and Development, 34 (3). pp. 238-243. ISSN 0387-7604

Ghezzi, Pietro, Floridi, Luciano, Boraschi, Diana, Cuadrado, Antonio, Manda, Gina, Levic, Snezana, D'Acquisto, Fulvio, Hamilton, Alice, Athersuch, Toby J and Selley, Liza (2018) Oxidative stress and inflammation induced by environmental and psychological stressors: a biomarker perspective. Antioxidants and Redox Signaling, 28 (9). pp. 852-872. ISSN 1523-0864

Hart, Lesley and O'Driscoll, Mark (2013) Causes and consequences of structural genomic alterations in the human genome. Encyclopedia of Life Sciences. pp. 1-10.

Karasozen, Yigit, Osbun, Joshua W, Parada, Carolina Angelica, Busald, Tina, Tatman, Philip, Gonzalez-Cuyar, Luis F, Hale, Christopher J, Alcantara, Diana, O'Driscoll, Mark, Dobyns, William B, Murray, Mitzi, Kim, Louis J, Byers, Peter, Dorschner, Michael O and Ferreira, Manuel (2019) Somatic PDGFRB activating variants in fusiform cerebral aneurysms. American Journal of Human Genetics, 104 (5). pp. 968-976. ISSN 1537-6605

Kerzendorfer, Claudia, Colnaghi, Rita, Abramowicz, Iga, Carpenter, Gillian and O'Driscoll, Mark (2013) Meier–Gorlin syndrome and Wolf–Hirschhorn syndrome: two developmental disorders highlighting the importance of efficient DNA replication for normal development and neurogenesis. DNA Repair, 12 (8). pp. 637-644. ISSN 1568-7864

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

Linke, Reinhold P, Serpell, Louise C, Lottspeich, Friedrich and Toyoda, Mitsuyasu (2017) Cathepsin K as a novel amyloid fibril protein in humans. Amyloid, 24 (1). pp. 68-69. ISSN 1350-6129

O'Driscoll, M, Macpherson, P, Xu, Y Z and Karran, P (1999) The cytotoxicity of DNA carboxymethylation and methylation by the model carboxymethylating agent azaserine in human cells. Carcinogenesis, 20 (9). pp. 1855-1862. ISSN 0143-3334

O'Driscoll, Mark (2012) Diseases associated with defective responses to DNA damage. Cold Spring Harbor Perspectives in Biology, 4 (12). :a012773. ISSN 1943-0264

O'Driscoll, Mark (2013) INK4a/ARF-dependent senescence upon persistent replication stress. Cell Cycle, 12 (13). pp. 1997-1998. ISSN 1538-4101

Payne, Felicity, Colnaghi, Rita, Rocha, Nuno, Seth, Asha, Harris, Julie, Carpenter, Gillian, Bottomley, William E, Wheeler, Eleanor, Wong, Stephen, Saudek, Vladimir, Savage, David, O'Rahilly, Stephen, Carel, Jean-Claude, Barroso, Inês, O'Driscoll, Mark and Semple, Robert (2014) Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. The Journal of Clinical Investigation, 124 (9). pp. 4028-4038. ISSN 0021-9738

Qiao, Ying, Mondal, Kajari, Trapani, Valentina, Wen, Jiadi, Carpenter, Gillian, Wildin, Robert, Price, E Magda, Gibbons, Richard J, Eichmeyer, Jennifer, Jiang, Ruby, Dupont, Barbara, Martell, Sally, Lewis, Suzanne M E, Robinson, Wendy P, O'Driscoll, Mark, Wolf, Federica I, Zwick, Michael E and Rajcan-Separovic, Evica (2014) Variant ATRX syndrome with dysfunction of ATRX and MAGT1 genes. Human mutation, 35 (1). pp. 58-62. ISSN 1098-1004

Ramos, Eliana Marisa, Carecchio, Miryam, Lemos, Roberta, Ferreira, Joana, Legati, Andrea, Sears, Renee Louise, Hsu, Sandy Chan, Panteghini, Celeste, Magistrelli, Luca, Salsano, Ettore, Esposito, Silvia, Taroni, Franco, Richard, Anne-Claire, Tranchant, Christine, Anheim, Mathieu, Ayrignac, Xavier, Goizet, Cyril, Vidailhet, Marie, Maltete, David, Wallon, David, Frebourg, Thierry, Pimentel, Lylyan, Geschwind, Daniel H, Vanakker, Olivier, Galasko, Douglas, Fogel, Brent L, Innes, A Micheil, Ross, Alison, Dobyns, William B, Alcantara, Diana, O'Driscoll, Mark, Hannequin, Didier, Campion, Dominique, The French PBC Study group, , Oliveira, João R, Garavaglia, Barbara, Coppola, Giovanni and Nicolas, Gaël (2018) Primary brain calcification: an international study reporting novel variants and associated phenotypes. European Journal of Human Genetics, 26 (10). pp. 1462-1477. ISSN 1018-4813

Stiff, Tom, Alagoz, Meryem, Alcantara, Diana, Outwin, Emily, Brunner, Han G, Bongers, Ernie M H F, O'Driscoll, Mark and Jeggo, Penny A (2013) Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of meier-gorlin syndrome. PLoS Genetics, 9 (3). e1003360. ISSN 1553-7404

Tanaka, Akio, Weinel, Sarah, Nagy, Nikoletta, O'Driscoll, Mark, Lai-Cheong, Joey E, Kulp-Shorten, Carol L, Knable, Alfred, Carpenter, Gillian, Fisher, Sheila A, Hiragun, Makiko, Yanase, Yuhki, Hide, Michihiro, Callen, Jeffrey and McGrath, John A (2012) Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome. American Journal of Human Genetics, 90 (3). pp. 511-517. ISSN 0002-9297

Thwaites, Ryan, Chamberlain, Giselle and Sacre, Sandra (2014) Emerging role of endosomal toll-like receptors in rheumatoid arthritis. Frontiers in Immunology, 5. pp. 1-8. ISSN 1664-3224

Van Esch, Hilde, Colnaghi, Rita, Freson, Kathleen, Starokadomskyy, Petro, Zankl, Andreas, Backx, Liesbeth, Abramowicz, Iga, Outwin, Emily, Rohena, Luis, Faulkner, Claire, Leong, Gary M, Newbury-Ecob, Ruth A, Challis, Rachel C, Õunap, Katrin, Jaeken, Jacques, Seuntjens, Eve, Devriendt, Koen, Burstein, Ezra, Low, Karen J and O'Driscoll, Mark (2019) Defective DNA polymerase α-primase leads to X-linked intellectual disability associated with severe growth retardation, microcephaly, and hypogonadism. American Journal of Human Genetics, 104 (5). pp. 957-967. ISSN 1537-6605

Walker, Stephen L, Middleton, Jo and Cassell, Jackie A (2019) Scabies outbreaks in care homes for the elderly – Authors' reply. Lancet Infectious Diseases, 19 (1). pp. 26-67. ISSN 1473-3099

Book Section

O'Driscoll, Mark (2016) Seckel syndrome. In: Erickson, Robert and Wynshaw-Boris, Anthony (eds.) Epstein's Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis. Oxford University Press, Oxford. ISBN 9780199934522

Conference or Workshop Item

Cassell, Jackie, Nalabanda, Ananth, Lanza, Stefania, Middleton, Jo, Head, Michael G, Bostock, Jennifer, Hewitt, Kirsty, Jones, Christopher, Darley, Charles, Karir, Simran and Walker, Stephen L (2016) A prospective study of scabies outbreaks in ten residential care facilities for the elderly in South-East England, 2014-15. In: Public Health England Annual Conference 2016, 13-14 Sept 2016, University of Warwick, UK.

This list was generated on Thu Aug 22 11:22:55 2019 BST.