G0700733/MRC_/Medical Research Council/United Kingdom[Grants and Funding] - Search Results

This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Save citations to file

Email citations

Subject: G0700733/MRC_/Medical Research Council/United Kin - PubMed

To:

From:

Selection:

Format:

MeSH and other data

Add to Collections

Add to My Bibliography

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Email: (change)

Frequency:

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Results by year

Year	Number of Results
2008	2
2009	4
2010	1
2011	8
2012	1
2024	0

15 results

Page of 2

Results by year

Page 1

Increased RPA1 gene dosage affects genomic stability potentially contributing to 17p13.3 duplication syndrome.

Outwin E, Carpenter G, Bi W, Withers MA, Lupski JR, O'Driscoll M. Outwin E, et al. PLoS Genet. 2011 Aug;7(8):e1002247. doi: 10.1371/journal.pgen.1002247. Epub 2011 Aug 25. PLoS Genet. 2011. PMID: 21901111 Free PMC article.

Understanding the impact of 1q21.1 copy number variant.

Harvard C, Strong E, Mercier E, Colnaghi R, Alcantara D, Chow E, Martell S, Tyson C, Hrynchak M, McGillivray B, Hamilton S, Marles S, Mhanni A, Dawson AJ, Pavlidis P, Qiao Y, Holden JJ, Lewis SM, O'Driscoll M, Rajcan-Separovic E. Harvard C, et al. Orphanet J Rare Dis. 2011 Aug 8;6:54. doi: 10.1186/1750-1172-6-54. Orphanet J Rare Dis. 2011. PMID: 21824431 Free PMC article.

The consequences of structural genomic alterations in humans: genomic disorders, genomic instability and cancer.

Colnaghi R, Carpenter G, Volker M, O'Driscoll M. Colnaghi R, et al. Semin Cell Dev Biol. 2011 Oct;22(8):875-85. doi: 10.1016/j.semcdb.2011.07.010. Epub 2011 Jul 23. Semin Cell Dev Biol. 2011. PMID: 21802523 Review.

Neuropathology of fetal stage Seckel syndrome: a case report providing a morphological correlate for the emerging molecular mechanisms.

Fitzgerald B, O'Driscoll M, Chong K, Keating S, Shannon P. Fitzgerald B, et al. Brain Dev. 2012 Mar;34(3):238-43. doi: 10.1016/j.braindev.2011.05.007. Epub 2011 Jun 12. Brain Dev. 2012. PMID: 21669506

Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome.

Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA. Bicknell LS, et al. Nat Genet. 2011 Feb 27;43(4):350-5. doi: 10.1038/ng.776. Nat Genet. 2011. PMID: 21358633

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function.

Kerzendorfer C, Hart L, Colnaghi R, Carpenter G, Alcantara D, Outwin E, Carr AM, O'Driscoll M. Kerzendorfer C, et al. Mech Ageing Dev. 2011 Aug;132(8-9):366-73. doi: 10.1016/j.mad.2011.02.003. Epub 2011 Feb 23. Mech Ageing Dev. 2011. PMID: 21352845 Review.

Genetic defects in human pericentrin are associated with severe insulin resistance and diabetes.

Huang-Doran I, Bicknell LS, Finucane FM, Rocha N, Porter KM, Tung YC, Szekeres F, Krook A, Nolan JJ, O'Driscoll M, Bober M, O'Rahilly S, Jackson AP, Semple RK; Majewski Osteodysplastic Primordial Dwarfism Study Group. Huang-Doran I, et al. Diabetes. 2011 Mar;60(3):925-35. doi: 10.2337/db10-1334. Epub 2011 Jan 26. Diabetes. 2011. PMID: 21270239 Free PMC article.

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient.

Raffan E, Hurst LA, Turki SA, Carpenter G, Scott C, Daly A, Coffey A, Bhaskar S, Howard E, Khan N, Kingston H, Palotie A, Savage DB, O'Driscoll M, Smith C, O'Rahilly S, Barroso I, Semple RK. Raffan E, et al. Front Endocrinol (Lausanne). 2011 Mar 29;2:8. doi: 10.3389/fendo.2011.00008. eCollection 2011. Front Endocrinol (Lausanne). 2011. PMID: 22654791 Free PMC article.

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

Kerzendorfer C, Whibley A, Carpenter G, Outwin E, Chiang SC, Turner G, Schwartz C, El-Khamisy S, Raymond FL, O'Driscoll M. Kerzendorfer C, et al. Hum Mol Genet. 2010 Apr 1;19(7):1324-34. doi: 10.1093/hmg/ddq008. Epub 2010 Jan 11. Hum Mol Genet. 2010. PMID: 20064923 Free PMC article.

Mouse models for ATR deficiency.

O'Driscoll M. O'Driscoll M. DNA Repair (Amst). 2009 Nov 2;8(11):1333-7. doi: 10.1016/j.dnarep.2009.09.001. Epub 2009 Sep 25. DNA Repair (Amst). 2009. PMID: 19782648 Review.

15 results

Page of 2

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

15 results

Results by year

Search Page

Filters

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

Search Results

15 results

Results by year