检索结果 - Mark O’Driscoll

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  1. 1
    Diseases Associated with Defective Responses to DNA Damage

    Diseases Associated with Defective Responses to DNA Damage 由 Mark O’Driscoll

    出版 2012
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  2. 2
    Congenital microcephaly

    Congenital microcephaly 由 Diana Alcantara, Mark O’Driscoll

    出版 2014
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  3. 3
    Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling

    Cellular and Clinical Impact of Haploinsufficiency for Genes Involved in ATR Signaling 由 Mark O’Driscoll, William B. Dobyns, Johanna M. van Hagen, Penny A. Jeggo

    出版 2007
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  4. 4
    Nbs1 is required for ATR-dependent phosphorylation events

    Nbs1 is required for ATR-dependent phosphorylation events 由 Tom Stiff, Caroline Reis, Gemma Alderton, Lisa Woodbine, Mark O’Driscoll, Penny A. Jeggo

    出版 2004
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  5. 5
    ATM and DNA-PK Function Redundantly to Phosphorylate H2AX after Exposure to Ionizing Radiation

    ATM and DNA-PK Function Redundantly to Phosphorylate H2AX after Exposure to Ionizing Radiation 由 Tom Stiff, Mark O’Driscoll, Nicole Rief, Kuniyoshi Iwabuchi, Markus Löbrich, Penny A. Jeggo

    出版 2004
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  6. 6
    Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway

    Seckel syndrome exhibits cellular features demonstrating defects in the ATR-signalling pathway 由 Gemma Alderton, Hans Joenje, Raymonda Varon, Anders D. Børglum, Penny A. Jeggo, Mark O’Driscoll

    出版 2004
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  7. 7
    A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

    A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome 由 Mark O’Driscoll, Víctor L. Ruiz‐Pérez, C. Geoffrey Woods, Penny A. Jeggo, Judith A. Goodship

    出版 2003
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  8. 8
    ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling

    ATR-dependent phosphorylation and activation of ATM in response to UV treatment or replication fork stalling 由 Thomas Stiff, Sarah Walker, Karen Cerosaletti, Aaron A. Goodarzi, Eva Petermann, Patrick Concannon, Mark O’Driscoll, Penny A. Jeggo

    出版 2006
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  9. 9
    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome

    Deficiency in Origin Licensing Proteins Impairs Cilia Formation: Implications for the Aetiology of Meier-Gorlin Syndrome 由 Tom Stiff, Meryem Alagöz, Diana Alcantara, Emily Outwin, Han G. Brunner, Ernie M.H.F. Bongers, Mark O’Driscoll, Penny A. Jeggo

    出版 2013
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  10. 10
    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

    Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism 由 Ghayda Mirzaa, Benjamin Vitre, Gillian Carpenter, I Abramowiçz, Joseph G. Gleeson, Alex R. Paciorkowski, Don W. Cleveland, William B. Dobyns, Mark O’Driscoll

    出版 2014
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  11. 11
    Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks

    Mutations in Cullin 4B result in a human syndrome associated with increased camptothecin-induced topoisomerase I-dependent DNA breaks 由 Claudia Kerzendorfer, Annabel Whibley, Gillian Carpenter, Emily Outwin, Shih‐Chieh Chiang, Gillian Turner, Charles E. Schwartz, Sherif F. El‐Khamisy, F. Lucy Raymond, Mark O’Driscoll

    出版 2010
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  12. 12
    Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

    Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling 由 Elen Griffith, Sarah Walker, Carol-Anne Martin, Paola Vagnarelli, Tom Stiff, Bertrand Vernay, Nouriya Al Sanna, Anand Saggar, Ben C.J. Hamel, William C. Earnshaw, Penny A. Jeggo, Andrew P. Jackson, Mark O’Driscoll

    出版 2007
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  13. 13
    Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

    Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome 由 Akio Tanaka, Sarah Weinel, Nikoletta Nagy, Mark O’Driscoll, Joey E. Lai‐Cheong, Carol L. Kulp‐Shorten, Alfred L. Knable, Gillian Carpenter, Sheila Fisher, Makiko Hiragun, Yuhki Yanase, Michihiro Hide, Jeffrey P. Callen, John A. McGrath

    出版 2012
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  14. 14
    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes

    Genetic Defects in Human Pericentrin Are Associated With Severe Insulin Resistance and Diabetes 由 Isabel Huang‐Doran, Louise S. Bicknell, Francis Finucane, Nuno Rocha, Keith Porter, Y.C. Loraine Tung, Ferenc Szekeres, Anna Krook, John J. Nolan, Mark O’Driscoll, Michael B. Bober, Stephen O’Rahilly, Andrew P. Jackson, Robert K. Semple

    出版 2011
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  15. 15
    DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency

    DNA Ligase IV Mutations Identified in Patients Exhibiting Developmental Delay and Immunodeficiency 由 Mark O’Driscoll, Karen Cerosaletti, Pierre-M Girard, Yan Dai, Markus Stümm, Boris Kysela, Betsy Hirsch, Andrew R. Gennery, S.E. Palmer, Jörg Seidel, Richard A. Gatti, Raymonda Varon, Marjorie A. Oettinger, Heidemarie Neitzel, Penny A. Jeggo, Patrick Concannon

    出版 2001
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  16. 16
    Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance

    Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance 由 Felicity Payne, Rita Colnaghi, Nuno Rocha, Asha Seth, J. Ieuan Harris, Gillian Carpenter, William Bottomley, Eleanor Wheeler, Stephen Q. Wong, Vladimı́r Saudek, David B. Savage, Stephen O’Rahilly, Jean‐Claude Carel, Inês Barroso, Mark O’Driscoll, Robert K. Semple

    出版 2014
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  17. 17
    Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

    Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome 由 Tomoo Ogi, Sarah Walker, Tom Stiff, Emma Hobson, Siripan Limsirichaikul, Gillian Carpenter, Katrina Prescott, Mohnish Suri, Philip J. Byrd, Michiko Matsuse, Norisato Mitsutake, Yuka Nakazawa, Pradeep Vasudevan, Margaret Barrow, Grant S. Stewart, A. Malcolm R. Taylor, Mark O’Driscoll, Penny A. Jeggo

    出版 2012
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  18. 18
    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms

    Somatic PDGFRB Activating Variants in Fusiform Cerebral Aneurysms 由 Yigit Karasozen, Joshua W. Osbun, Carolina A. Parada, Tina Busald, Philip D. Tatman, Luis F. Gonzalez‐Cuyar, Christopher J. Hale, Diana Alcantara, Mark O’Driscoll, William B. Dobyns, Mitzi L. Murray, Louis J. Kim, Peter H. Byers, Michael O. Dorschner, Manuel Ferreira

    出版 2019
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  19. 19
    Mutations in PIK3R1 Cause SHORT Syndrome

    Mutations in PIK3R1 Cause SHORT Syndrome 由 David A. Dyment, Amanda Smith, Diana Alcantara, Jeremy Schwartzentruber, Lina Basel‐Vanagaite, Cynthia J. Curry, I. Karen Temple, William Reardon, Sahar Mansour, Mushfequr R. Haq, Rodney D. Gilbert, Ordan J. Lehmann, Megan R. Vanstone, Chandree L. Beaulieu, Jacek Majewski, Dennis E. Bulman, Mark O’Driscoll, Kym M. Boycott, A. Micheil Innes

    出版 2013
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  20. 20
    Understanding the impact of 1q21.1 copy number variant

    Understanding the impact of 1q21.1 copy number variant 由 Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva W. C. Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray, Sara Hamilton, Sandra L. Marles, Aziz Mhanni, Angelika J. Dawson, Paul Pavlidis, Ying Qiao, J.J.A. Holden, M. E. Suzanne Lewis, Mark O’Driscoll, Evica Rajcan‐Separovic

    出版 2011
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