Chuzhanova N - Search Results

1

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics.

Cooper DN, Chen JM, Ball EV, Howells K, Mort M, Phillips AD, Chuzhanova N, Krawczak M, Kehrer-Sawatzki H, Stenson PD. Cooper DN, et al. Among authors: chuzhanova n. Hum Mutat. 2010 Jun;31(6):631-55. doi: 10.1002/humu.21260. Hum Mutat. 2010. PMID: 20506564 Review.

2

Translocation and gross deletion breakpoints in human inherited disease and cancer II: Potential involvement of repetitive sequence elements in secondary structure formation between DNA ends.

Chuzhanova N, Abeysinghe SS, Krawczak M, Cooper DN. Chuzhanova N, et al. Hum Mutat. 2003 Sep;22(3):245-51. doi: 10.1002/humu.10253. Hum Mutat. 2003. PMID: 12938089

3

Gene conversion causing human inherited disease: evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair.

Chuzhanova N, Chen JM, Bacolla A, Patrinos GP, Férec C, Wells RD, Cooper DN. Chuzhanova N, et al. Hum Mutat. 2009 Aug;30(8):1189-98. doi: 10.1002/humu.21020. Hum Mutat. 2009. PMID: 19431182 Free PMC article.

4

Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes.

Ivanov D, Hamby SE, Stenson PD, Phillips AD, Kehrer-Sawatzki H, Cooper DN, Chuzhanova N. Ivanov D, et al. Among authors: chuzhanova n. Hum Mutat. 2011 Jun;32(6):620-32. doi: 10.1002/humu.21483. Epub 2011 Mar 22. Hum Mutat. 2011. PMID: 21432943

5

A Role for Non-B DNA Forming Sequences in Mediating Microlesions Causing Human Inherited Disease.

Kamat MA, Bacolla A, Cooper DN, Chuzhanova N. Kamat MA, et al. Among authors: chuzhanova n. Hum Mutat. 2016 Jan;37(1):65-73. doi: 10.1002/humu.22917. Epub 2015 Nov 2. Hum Mutat. 2016. PMID: 26466920

6

Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs.

Abeysinghe SS, Chuzhanova N, Krawczak M, Ball EV, Cooper DN. Abeysinghe SS, et al. Among authors: chuzhanova n. Hum Mutat. 2003 Sep;22(3):229-44. doi: 10.1002/humu.10254. Hum Mutat. 2003. PMID: 12938088

7

Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity.

Chuzhanova NA, Anassis EJ, Ball EV, Krawczak M, Cooper DN. Chuzhanova NA, et al. Hum Mutat. 2003 Jan;21(1):28-44. doi: 10.1002/humu.10146. Hum Mutat. 2003. PMID: 12497629

8

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Ball EV, Stenson PD, Abeysinghe SS, Krawczak M, Cooper DN, Chuzhanova NA. Ball EV, et al. Among authors: chuzhanova na. Hum Mutat. 2005 Sep;26(3):205-13. doi: 10.1002/humu.20212. Hum Mutat. 2005. PMID: 16086312

9

In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity.

Khan IA, Mort M, Buckland PR, O'Donovan MC, Cooper DN, Chuzhanova NA. Khan IA, et al. Among authors: chuzhanova na. In Silico Biol. 2006;6(1-2):23-34. In Silico Biol. 2006. PMID: 16789908

10

A meta-analysis of nonsense mutations causing human genetic disease.

Mort M, Ivanov D, Cooper DN, Chuzhanova NA. Mort M, et al. Among authors: chuzhanova na. Hum Mutat. 2008 Aug;29(8):1037-47. doi: 10.1002/humu.20763. Hum Mutat. 2008. PMID: 18454449

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

83 results

Search Page

Filters