Items where Author is "Chuzhanova, NA"

TAYLOR, T., DINEEN, R.A., GARDINER, D.C., BUSS, C.H., HOWATSON, A., CHUZHANOVA, N.A. and PACE, N.L., 2012. Computed tomography (CT) angiography for confirmation of the clinical diagnosis of brain death [protocol]. Cochrane Database of Systematic Reviews (3).

BACOLLA, A., WANG, G., JAIN, A., CHUZHANOVA, N.A., COOPER, D.N., BOHR, V.A. and VASQUEZ, K.M., 2011. Non-B DNA-forming sequences and WRN deficiency independently increase the frequency of base substitutions in human cells. Journal of Biological Chemistry, 286, pp. 10017-10026.

MILLAR, D.S., HORAN, M., CHUZHANOVA, N.A. and COOPER, D.N., 2010. Characterization of a functional intronic polymorphism in the human growth hormone (GH1) gene. Human Genomics, 4, pp. 289-301.

ROEHL, A.C., VOGT, J., MUSSOTTER, T., ZICKER, A.N., SPÖRI, H., HÖGEL, J., CHUZHANOVA, N.A., WIMMER, K., KLUWE, L., MAUTNER, V., COOPER, D.N. and KEHRER-SAWATZKI, H., 2010. Intrachromosomal mitotic non-allelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions. Human Mutation, 31, pp. 1163-1173.

COOPER, D.N., MORT, M., STENSON, P.D., BALL, E.V. and CHUZHANOVA, N.A., 2010. Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides as well as in CpG dinucleotides. Human Genomics, 4, pp. 406-410.

BENGESSER, K., COOPER, D.N., STEINMANN, K., KLUWE, L., CHUZHANOVA, N.A., WIMMER, K., TINSCHERT, S., MAUTNER, V. and KEHRER-SAWATZKI, H., 2010. A novel third type of recurrent NF1 microdeletion mediated by non-allelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. Human Mutation, 31, pp. 742-751.

KOLB, J., CHUZHANOVA, N.A., HÖGEL, J., COOPER, D.N., BACOLLA, A. and KEHRER-SAWATZKI, H., 2009. Cruciform-forming inverted repeats mediated many microinversions that distinguish the human and chimpanzee genomes. Chromosome Research, 17, pp. 469-483.

PERSICHETTI, E., CHUZHANOVA, N.A., DARDIS, A., TAPPINO, B., POHL, S., THOMAS, N.S.T., ROSANO, C., BALDUCCI, C., PACIOTTI, S., DOMINISSINI, S., MONTALVO, A.L., SIBILIO, M., PARINI, R., RIGOLDI, M., DI, R., PARENTI, G., ORLACCHIO, A., BEMBI, B. and COOPER, D.N., 2009. 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. Human Mutation, 30, pp. 978-984.

TAPPINO, B., CHUZHANOVA, N.A., REGIS, S., DARDIS, A., CORSOLINI, F., STROPPIANO, M., TONOLI, E., ROSANO, C., MUCHA, J., BLANCO, M., BECCARI, T., SZLAGO, M., DI, R., COOPER, D.N. and FILOCAMO, M., 2009. Molecular Characterization of 22 Novel UDP-N-acetylglucosamine-1-phosphate transferase á- and â-subunit (GNPTAB) Gene Mutations Causing Mucolipidosis Types IIá/â and IIIá/â in 46 Patients. Human Mutation, 30 (11).

MORT, M., IVANOV, D., COOPER, D.N. and CHUZHANOVA, N.A., 2008. A meta-analysis of nonsense mutations causing human genetic disease. Human Mutation, 29 (8), pp. 1037-1047. ISSN 1059-7794

WEEKS, K., CHUZHANOVA, N.A., DONNISON, I.S. and SCOTT, I.M., 2007. Phylogenetic hierarchies of conserved blocks in 5' noncoding sequences of dicot rbcs genes. BMC Evolutionary Biology, 7, p. 51.

STEINMANN, K., COOPER, D.N., KLUWE, L., CHUZHANOVA, N.A., SENGER, C., SERRA, E., LAZARO, C., WIMMER, K., MAUTNER, V. and KEHRER-SAWATZKI, H., 2007. 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. American Journal of Human Genetics, 81, pp. 1201-1220.

ABEYSINGHE, S.S., CHUZHANOVA, N.A. and COOPER, D.N., 2006. Gross deletions and translocations in human genetic disease. In: Genome and disease. Karger, pp. 17-36.

COOPER, D.N., STENSON, P.D. and CHUZHANOVA, N.A., 2006. The Human Gene Mutation Database (HGMD®) and its exploitation in the study of mutational mechanisms. Current Protocols in Bioinformatics, 1 (13), pp. 1-20.

KHAN, I., MORT, M., BUCKLAND, P.R., COOPER, D.N., O'DONAVAN, M.C. and CHUZHANOVA, N.A., 2006. In silico discrimination of single nucleotide polymorphisms and pathological mutations in human gene promoter regions by means of local DNA sequence context and regularity. In Silico Biology, 6, pp. 23-34.

ASHELFORD, K.E., CHUZHANOVA, N.A., FRY, J.C., JONES, J.J. and WEIGHTMAN, A.J., 2006. New screening software shows most 16S rRNA clone libraries published in 2005 contain chimeras. Applied and Environmental Microbiology, 72, pp. 5734-5741.

TREDANO, M., COOPER, D.N., STUHRMANN, M., CHRISTODOULOU, J., CHUZHANOVA, N.A., ROUDOT-THORAVAL, F., BOËLLE, P., ELION, J., JEANPIERRE, M., FEINGOLD, J., RÉMY, C. and BAHUAU, M., 2006. Origin of the prevalent SFTPB indel g.1549C>GAA (121ins2) mutation causing surfactant proteinB (SPB) deficiency. American Journal of Medical Genetics - A, 140, pp. 62-69.

ASHELFORD, K.E., CHUZHANOVA, N.A., FRY, J.C., JONES, A.J. and WEIGHTMAN, A.J., 2005. At least one in twenty 16S rRNA sequence records currently held in public repositories estimated to contain substantial anomalies. Applied and Environmental Microbiology, 72, pp. 7724-7736.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Complex gene rearrangements caused by serial replication slippage. Human Mutation, 26, pp. 125-134.

GOIDTS, V., SZAMALEK, J.M., DE, J., COOPER, D.N., CHUZHANOVA, N.A., HAMEISTER, H. and KEHRER-SAWATZKI, H., 2005. Independent intra-chromosomal recombination events underlie the pericentric inversions of chimpanzee and gorilla chromosomes homologous to human chromosome 16. Genome Research, 15, pp. 1232-1242.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Human Mutation, 26, pp. 362-374.

CHEN, J.M., CHUZHANOVA, N.A., STENSON, P.D., FÉREC, C. and COOPER, D.N., 2005. Meta-analysis of gross insertions causing human genetic disease: novel mutational mechanisms and the role of replication slippage. Human Mutation, 25, pp. 207-221.

BACOLLA, A., JAWORSKI, A., LARSON, J.E., JAKUPCIAK, J.P., CHUZHANOVA, N.A., ABEYSINGHE, S.S., O'CONNELL, C.D., COOPER, D.N. and WELLS, R.D., 2004. Breakpoints of gross deletions coincide with non-B DNA conformations. Proceedings of the National Academy of Sciences of the United Statesof America (PNAS), 101, pp. 14162-14167.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2004. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. Human Mutation (Mutation in Brief) (683).

CHUZHANOVA, N.A. and COOPER, D.N., 2004. Using change in local DNA sequence complexity as a pointer to the mechanism of mutagenesis in inherited disease. In: N. KOLCHANOV and R. HOFESTAEDT, eds., Bioinformatics of genome regulation and structure. Kluwer, pp. 13-20.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 2003. Adaptive algorithm of pattern matching in symbolic sequences. In: Proceedings of OGRW-6-2003 Workshop.

CHUZHANOVA, N.A., ANASSIS, E.J., BALL, E., KRAWCZAK, M. and COOPER, D.N., 2003. Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity. Human Mutation, 21, pp. 28-44.

LE, M., CHEN, J.M., LE, G., PLESSIS, G., CHIPPONI, J., CHUZHANOVA, N.A., RAGUÉNÈS, O. and FÉREC, C., 2003. Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial or/and hereditary pancreatitis. American Journal of Human Genetics, 73 (5), p. 565.

CHUZHANOVA, N.A. and COOPER, D.N., 2002. Mechanisms of mutagenesis and the role of local DNA sequence complexity. In: Proceedings of the 3rd International Conference on Bioinformatics of Genome Regulation and Structure (BGRS'2000), Novosibirsk, Russia.

CHUZHANOVA, N.A., KRAWCZAK, M., THOMAS, N., NEMYTIKOVA, L.A., GUSEV, V.D. and COOPER, D.N., 2002. The evolution of the vertebrate â-globin gene promoter. Evolution, 56, pp. 154-162.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 2001. A fast method for identification of interconnections between functionally and/or evolutionarily related genetic sequences. Molecular biology, 35, pp. 867-873.

KRAWCZAK, M., CHUZHANOVA, N.A., STENSON, P., JOHANSEN, B., BALL, E. and COOPER, D.N., 2000. Changes in primary DNA sequence complexity influence the phenotypic consequences of mutations in human gene regulatory regions. Human Genetics, 107, pp. 362-365.

SHAMSHER, M.K., CHUZHANOVA, N.A., FRIEDMAN, B., SCOPES, D.A., ALHAQ, A., MILLAR, D.S., COOPER, D.N. and BERG, L., 2000. Identification of an intronic regulatory element in the human protein C (PROC) gene. Human Genetics, 107, pp. 458-465.

CHUZHANOVA, N.A., KRAWCZAK, M., GUSEV, V.D., NEMYTIKOVA, L.A. and COOPER, D.N., 2000. Promoter shuffling has occurred during the evolution of the vertebrate growth hormone gene. Gene, 254, pp. 9-18.

KRAWCZAK, M., CHUZHANOVA, N.A. and COOPER, D.N., 1999. Evolution of the proximal promoter region of the mammalian growth hormone gene. Gene, 237, pp. 143-151.

GUSEV, V.D., NEMYTIKOVA, L.A. and CHUZHANOVA, N.A., 1999. On the complexity measures of genetic sequences. Bioinformatics, 15, pp. 994-999.

CHUZHANOVA, N.A., JONES, A.J. and MARGETTS, S., 1998. Feature selection for genetic sequence classification. Bioinformatics, 14, pp. 139-143.