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Items: 28

1.

Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitution in human cells.

Bacolla A, Wang G, Jain A, Chuzhanova NA, Cer RZ, Collins JR, Cooper DN, Bohr VA, Vasquez KM.

J Biol Chem. 2011 Mar 25;286(12):10017-26. doi: 10.1074/jbc.M110.176636. Epub 2011 Feb 1.

3.

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340.

PMID:
20725927
4.

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

Millar DS, Horan M, Chuzhanova NA, Cooper DN.

Hum Genomics. 2010 Jun;4(5):289-301.

5.

A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2.

Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2010 Jun;31(6):742-51. doi: 10.1002/humu.21254.

PMID:
20506354
6.

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

Tappino B, Chuzhanova NA, Regis S, Dardis A, Corsolini F, Stroppiano M, Tonoli E, Beccari T, Rosano C, Mucha J, Blanco M, Szlago M, Di Rocco M, Cooper DN, Filocamo M.

Hum Mutat. 2009 Nov;30(11):E956-73. doi: 10.1002/humu.21099.

PMID:
19634183
7.

Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes.

Kolb J, Chuzhanova NA, Högel J, Vasquez KM, Cooper DN, Bacolla A, Kehrer-Sawatzki H.

Chromosome Res. 2009;17(4):469-83. doi: 10.1007/s10577-009-9039-9. Epub 2009 May 28.

PMID:
19475482
8.

Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma.

Persichetti E, Chuzhanova NA, Dardis A, Tappino B, Pohl S, Thomas NS, Rosano C, Balducci C, Paciotti S, Dominissini S, Montalvo AL, Sibilio M, Parini R, Rigoldi M, Di Rocco M, Parenti G, Orlacchio A, Bembi B, Cooper DN, Filocamo M, Beccari T.

Hum Mutat. 2009 Jun;30(6):978-84. doi: 10.1002/humu.20959.

PMID:
19370764
9.

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

Mort M, Ivanov D, Cooper DN, Chuzhanova NA.

Hum Mutat. 2008 Aug;29(8):1037-47. doi: 10.1002/humu.20763.

PMID:
18454449
10.

The Human Gene Mutation Database (HGMD) and its exploitation in the study of mutational mechanisms.

Cooper DN, Stenson PD, Chuzhanova NA.

Curr Protoc Bioinformatics. 2006 Jan;Chapter 1:Unit 1.13. doi: 10.1002/0471250953.bi0113s12.

PMID:
18428754
11.

Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination.

Steinmann K, Cooper DN, Kluwe L, Chuzhanova NA, Senger C, Serra E, Lazaro C, Gilaberte M, Wimmer K, Mautner VF, Kehrer-Sawatzki H.

Am J Hum Genet. 2007 Dec;81(6):1201-20. Epub 2007 Oct 31.

12.

Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes.

Weeks KE, Chuzhanova NA, Donnison IS, Scott IM.

BMC Evol Biol. 2007 Apr 2;7:51.

13.

New screening software shows that most recent large 16S rRNA gene clone libraries contain chimeras.

Ashelford KE, Chuzhanova NA, Fry JC, Jones AJ, Weightman AJ.

Appl Environ Microbiol. 2006 Sep;72(9):5734-41.

14.
15.

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, Boëlle PY, Elion J, Jeanpierre M, Feingold J, Couderc R, Bahuau M.

Am J Med Genet A. 2006 Jan 1;140(1):62-9.

PMID:
16333843
16.

At least 1 in 20 16S rRNA sequence records currently held in public repositories is estimated to contain substantial anomalies.

Ashelford KE, Chuzhanova NA, Fry JC, Jones AJ, Weightman AJ.

Appl Environ Microbiol. 2005 Dec;71(12):7724-36.

17.

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.

Hum Mutat. 2005 Sep;26(3):205-13.

PMID:
16086312
18.

Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis.

Le Maréchal C, Chen JM, Le Gall C, Plessis G, Chipponi J, Chuzhanova NA, Raguénès O, Férec C.

Hum Mutat. 2004 Feb;23(2):205.

PMID:
14722925
19.

Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer.

Turner C, Killoran C, Thomas NS, Rosenberg M, Chuzhanova NA, Johnston J, Kemel Y, Cooper DN, Biesecker LG.

Hum Genet. 2003 Mar;112(3):303-9. Epub 2003 Jan 25.

PMID:
12545275
20.

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.

Hum Mutat. 2003 Jan;21(1):28-44.

PMID:
12497629
21.

The evolution of the vertebrate beta-globin gene promoter.

Chuzhanova NA, Krawczak M, Thomas N, Nemytikova LA, Gusev VD, Cooper DN.

Evolution. 2002 Feb;56(2):224-32.

PMID:
11926491
22.

[A rapid method for detecting interconnections between functionally and/or evolutionary close biological sequences].

Gusev VD, Nemytikova LA, Chuzhanova NA.

Mol Biol (Mosk). 2001 Nov-Dec;35(6):1015-22. Russian.

PMID:
11771125
23.

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.

Hum Genet. 2000 Nov;107(5):458-65.

PMID:
11140943
24.

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.

Hum Genet. 2000 Oct;107(4):362-5.

PMID:
11129336
25.

Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene.

Chuzhanova NA, Krawczak M, Nemytikova LA, Gusev VD, Cooper DN.

Gene. 2000 Aug 22;254(1-2):9-18.

PMID:
10974531
26.

On the complexity measures of genetic sequences.

Gusev VD, Nemytikova LA, Chuzhanova NA.

Bioinformatics. 1999 Dec;15(12):994-9.

PMID:
10745989
27.

Evolution of the proximal promoter region of the mammalian growth hormone gene.

Krawczak M, Chuzhanova NA, Cooper DN.

Gene. 1999 Sep 3;237(1):143-51.

PMID:
10524245
28.

Feature selection for genetic sequence classification.

Chuzhanova NA, Jones AJ, Margetts S.

Bioinformatics. 1998;14(2):139-43.

PMID:
9545445

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