Chuzhanova NA - Search Results

1

Identification of an intronic regulatory element in the human protein C (PROC) gene.

Shamsher MK, Chuzhanova NA, Friedman B, Scopes DA, Alhaq A, Millar DS, Cooper DN, Berg LP. Shamsher MK, et al. Among authors: chuzhanova na. Hum Genet. 2000 Nov;107(5):458-65. doi: 10.1007/s004390000391. Hum Genet. 2000. PMID: 11140943

2

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

Millar DS, Horan M, Chuzhanova NA, Cooper DN. Millar DS, et al. Among authors: chuzhanova na. Hum Genomics. 2010 Jun;4(5):289-301. doi: 10.1186/1479-7364-4-5-289. Hum Genomics. 2010. PMID: 20650818 Free PMC article.

3

Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions.

Krawczak M, Chuzhanova NA, Stenson PD, Johansen BN, Ball EV, Cooper DN. Krawczak M, et al. Among authors: chuzhanova na. Hum Genet. 2000 Oct;107(4):362-5. doi: 10.1007/s004390000393. Hum Genet. 2000. PMID: 11129336

4

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.

Millar DS, Tysoe C, Lazarou LP, Pilz DT, Mohammed S, Anderson K, Chuzhanova N, Cooper DN, Butler R. Millar DS, et al. Hum Genomics. 2010 Aug;4(6):384-93. doi: 10.1186/1479-7364-4-6-384. Hum Genomics. 2010. PMID: 20846927 Free PMC article.

5

Screening in silico predicted remotely acting NF1 gene regulatory elements for mutations in patients with neurofibromatosis type 1.

Hamby SE, Reviriego P, Cooper DN, Upadhyaya M, Chuzhanova N. Hamby SE, et al. Hum Genomics. 2013 Aug 15;7(1):18. doi: 10.1186/1479-7364-7-18. Hum Genomics. 2013. PMID: 23947441 Free PMC article.

6

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Mayes MB, Morgan T, Winston J, Buxton DS, Kamat MA, Smith D, Williams M, Martin RL, Kleinjan DA, Cooper DN, Upadhyaya M, Chuzhanova N. Mayes MB, et al. Hum Genomics. 2015 Oct 7;9:25. doi: 10.1186/s40246-015-0047-x. Hum Genomics. 2015. PMID: 26446085 Free PMC article.

7

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

8

Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage.

Chen JM, Chuzhanova N, Stenson PD, Férec C, Cooper DN. Chen JM, et al. Hum Mutat. 2005 Feb;25(2):207-21. doi: 10.1002/humu.20133. Hum Mutat. 2005. PMID: 15643617

9

Molecular characterisation of the pericentric inversion that distinguishes human chromosome 5 from the homologous chimpanzee chromosome.

Szamalek JM, Goidts V, Chuzhanova N, Hameister H, Cooper DN, Kehrer-Sawatzki H. Szamalek JM, et al. Hum Genet. 2005 Jul;117(2-3):168-76. doi: 10.1007/s00439-005-1287-y. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883840

10

A gene conversion hotspot in the human growth hormone (GH1) gene promoter.

Wolf A, Millar DS, Caliebe A, Horan M, Newsway V, Kumpf D, Steinmann K, Chee IS, Lee YH, Mutirangura A, Pepe G, Rickards O, Schmidtke J, Schempp W, Chuzhanova N, Kehrer-Sawatzki H, Krawczak M, Cooper DN. Wolf A, et al. Hum Mutat. 2009 Feb;30(2):239-47. doi: 10.1002/humu.20850. Hum Mutat. 2009. PMID: 18800374

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