Items for Colnaghi, Rita

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Number of items: 16.

Article

Abramowicz, Iga, Carpenter, Gillian, Alfieri, Mariaevelina, Colnaghi, Rita, Outwin, Emily, Parent, Philippe, Thauvin-Robinet, Christel, Iaconis, Daniela, Franco, Brunella and O'Driscoll, Mark (2017) Oral-Facial-Digital syndrome Type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network. Human Molecular Genetics, 26 (1). pp. 19-32. ISSN 0964-6906

Bagheri, Hani, Badduke, Chansonette, Qiao, Ting, Colnaghi, Rita, Abramowicz, Iga, Alcantara, Diana, Dunham, Christopher, Wen, Jladl, Wlldln, Robert S, Nowaczyk, Malgorzata J M, Elchmeyer, Jennifer, Lehman, Anna, Maranda, Bruno, Martell, Sally, Shan, Xianghong, Lewis, Suzanne M E, O'Driscoll, Mark, Gregory-Evans, Cheryl Y and Rajcan-Separovic, Evica (2016) Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. Journal of Clinical Investigation Insight, 1 (3). e85461. ISSN 2379-3708

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

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

Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The Consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer. Seminars in Cell and Developmental Biology, 22 (8). pp. 875-885. ISSN 1084-9521

Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The consequences of structural genomic alterations in humans: genomic disorders, genomic instability & cancer. Seminars in Cell & Developmental Biology, 22 (8). pp. 875-885. ISSN 10849521

Harvard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul, Qiao, Ying, Holden, Jeanette J, Lewis, Suzanne M E, O'Driscoll, Mark and Rajcan-Separovic, Evica (2011) Understanding the impact of 1q21.1 Copy Number Variant. Orphanet Journal of Rare Diseases, 6 (1 (54)).

Colnaghi, Rita, Carpenter, Gillian, Volker, Marcel and O'Driscoll, Mark (2011) The consequences of structural genomic alterations in humans: Genomic Disorders, genomic instability and cancer. Seminars in Cell & Developmental Biology.

Kerzendorfer, Claudia, Hart, Lesley, Colnaghi, Rita, Carpenter, Gillian, Alcantara, Diana, Outwin, Emily, Carr, Antony M and O'Driscoll, Mark (2011) CUL4B-deficiency in humans: Understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function. Mechanisms of Ageing and Disease.

Havard, Chansonette, Strong, Emma, Mercier, Eloi, Colnaghi, Rita, Alcantara, Diana Rita Ralha, Chow, Eva, Martell, Sally, Tyson, Christine, Hrynchak, Monica, McGillivray, Barbara, Hamilton, Sara, Marles, Sandra, Mhanni, Aziz, Dawson, Angelika J, Pavlidis, Paul and Qiao, Ying (2011) Understanding the impact of 1q21.1 copy number variant. Orphanet Journal of Rare Diseases, 6 (54). ISSN 1750-1172

Connell, Claire M., Colnaghi, Rita and Wheatley, Sally P. (2008) Nuclear survivin has reduced stability and is not cytoprotective. Journal of Biological Chemistry, 238 (6). pp. 3289-3296. ISSN 0021-9258

Connell, Claire M, Colnaghi, Rita and Wheatley, Sally P (2008) Nuclear survivin has reduced stability and is not cytoprotective. Journal of Biological Chemistry, 238 (6). pp. 3289-3296. ISSN 0021-9258

Noton, Elizabeth A, Colnaghi, Rita, Tate, Sharon, Starck, Carlene, Carvalho, Ana, Ferrigno, Paul Ko and Wheatley, Sally P (2006) Molecular analysis of survivin isoforms: evidence that alternatively spliced variants do not play a role in mitosis. Journal of Biological Chemistry, 281 (2). pp. 1286-1295. ISSN 0021-9258

Noton, E. A., Colnaghi, R., Tate, S., Starck, C., Carvalho, A., Ferrigno, P. K. and Wheatley, S. P. (2006) Molecular Analysis of Survivin Isoforms: Evidence that alternatively spliced variants do not play a role in mitosis. Journal of Biological Chemistry, 281 (2). pp. 1286-1295. ISSN 0021-9258 (Print)

Colnaghi, Rita, Connell, Claire M., Barrett, Rachel M. A. and Wheatley, Sally P. (2006) Separating the anti-apoptotic and mitotic roles of survivin. Journal of Biological Chemistry, 281 (44). pp. 33450-33456. ISSN 0021-9258

This list was generated on Tue Nov 21 22:18:18 2017 GMT.