Search the collection

48 results for Chuzhanova,+Nadia

Sort by:

Sort by

Limit results to:

20 per page

48 results for Chuzhanova,+Nadia

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Gene conversion: mechanisms, evolution and human disease
Author / Creator:Chen, Jian-Min ; Cooper, David N. ; Chuzhanova, Nadia ; Férec, Claude ; Patrinos, George P.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2007-10, Vol.8 (10), p.762-775
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
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
Author / Creator:Cooper, David N ; Mort, Matthew ; Stenson, Peter D ; Ball, Edward V ; Chuzhanova, Nadia A
Publisher:England: BioMed Central
Journal title:Human genomics, 2010-08, Vol.4 (6), p.406-410
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species
Author / Creator:Joseph, Susan ; Desai, Prerak ; Ji, Yongmei ; Cummings, Craig A. ; Shih, Rita ; Degoricija, Lovorka ; Rico, Alain ; Brzoska, Pius ; Hamby, Stephen E. ; Masood, Naqash ; Hariri, Sumyya ; Sonbol, Hana ; Chuzhanova, Nadia ; McClelland, Michael ; Furtado, Manohar R. ; Forsythe, Stephen J.
Publisher:United States: Public Library of Science
Journal title:PloS one, 2012-11, Vol.7 (11), p.e49455-e49455
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?
Author / Creator:Alkindy, Adila ; Chuzhanova, Nadia ; Kini, Usha ; Cooper, David N ; Upadhyaya, Meena
Publisher:England: BioMed Central Ltd
Journal title:Human genomics, 2012-08, Vol.6 (1), p.12-12
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs
Author / Creator:Abeysinghe, Shaun S. ; Chuzhanova, Nadia ; Krawczak, Michael ; Ball, Edward V. ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-09, Vol.22 (3), p.229-244
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
Author / Creator:Ball, Edward V. ; Stenson, Peter D. ; Abeysinghe, Shaun S. ; Krawczak, Michael ; Cooper, David N. ; Chuzhanova, Nadia A.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-09, Vol.26 (3), p.205-213
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene
Author / Creator:Millar, David S ; Horan, Martin ; Chuzhanova, Nadia A ; Cooper, David N
Publisher:England: BioMed Central
Journal title:Human genomics, 2010-06, Vol.4 (5), p.289-301
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Breakpoints of Gross Deletions Coincide with Non-B DNA Conformations
Author / Creator:Bacolla, Albino ; Jaworski, Adam ; Larson, Jacquelynn E. ; Jakupciak, John P. ; Chuzhanova, Nadia ; Abeysinghe, Shaun S. ; O'Connell, Catherine D. ; Cooper, David N. ; Wells, Robert D. ; Modrich, Paul L.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2004-09, Vol.101 (39), p.14162-14167
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
Author / Creator:Vogt, Guillaume ; Chapgier, Ariane ; Yang, Kun ; Chuzhanova, Nadia ; Feinberg, Jacqueline ; Fieschi, Claire ; Boisson-Dupuis, Stéphanie ; Alcais, Alexandre ; Filipe-Santos, Orchidée ; Bustamante, Jacinta ; de Beaucoudrey, Ludovic ; Al-Mohsen, Ibrahim ; Al-Hajjar, Sami ; Al-Ghonaium, Abdulaziz ; Adimi, Parisa ; Mirsaeidi, Mehdi ; Khalilzadeh, Soheila ; Rosenzweig, Sergio ; de la Calle Martin, Oscar ; Bauer, Thomas R ; Puck, Jennifer M ; Ochs, Hans D ; Furthner, Dieter ; Engelhorn, Carolin ; Belohradsky, Bernd ; Mansouri, Davood ; Holland, Steven M ; Schreiber, Robert D ; Abel, Laurent ; Cooper, David N ; Soudais, Claire ; Casanova, Jean-Laurent
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2005-07, Vol.37 (7), p.692-700
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage
Author / Creator:Chen, Jian-Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-02, Vol.25 (2), p.207-221
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity
Author / Creator:Hamby, Stephen E ; Joseph, Susan ; Forsythe, Stephen J ; Chuzhanova, Nadia
Publisher:England: BioMed Central Ltd
Journal title:BMC microbiology, 2011-09, Vol.11 (1), p.204-204
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity
Author / Creator:Chuzhanova, Nadia A. ; Anassis, Emmanuel J. ; Ball, Edward V. ; Krawczak, Michael ; Cooper, David N.
Publisher:New York: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2003-01, Vol.21 (1), p.28-44
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease
Author / Creator:Hamby, Stephen E ; Thomas, Nick ST ; Cooper, David N ; Chuzhanova, Nadia
Publisher:England: BioMed Central
Journal title:Human genomics, 2011-05, Vol.5 (4), p.241-264
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer
Author / Creator:Turner, Clesson ; Killoran, Christina ; Thomas, Nick S. T. ; Rosenberg, Marjorie ; Chuzhanova, Nadia A. ; Johnston, Jennifer ; Kemel, Yelena ; Cooper, David N. ; Biesecker, Leslie G.
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2003-03, Vol.112 (3), p.303-309
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the...
Author / Creator:Férec, Claude ; Casals, Teresa ; Chuzhanova, Nadia ; Macek, Milan ; Bienvenu, Thierry ; Holubova, Andrea ; King, Caitriona ; McDevitt, Trudi ; Castellani, Carlo ; Farrell, Philip M ; Sheridan, Molly ; Pantaleo, Sarah-Jane ; Loumi, Ourida ; Messaoud, Taieb ; Cuppens, Harry ; Torricelli, Francesca ; Cutting, Garry R ; Williamson, Robert ; Ramos, Maria Jesus Alonso ; Pignatti, Pier Franco ; Raguénès, Odile ; Cooper, David N ; Audrézet, Marie-Pierre ; Chen, Jian-Min
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2006-05, Vol.14 (5), p.567-576
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Cruciform-forming inverted repeats appear to have mediated many of the microinversions that distinguish the human and chimpanzee genomes
Author / Creator:Kolb, Jessica ; Chuzhanova, Nadia A ; Högel, Josef ; Vasquez, Karen M ; Cooper, David N ; Bacolla, Albino ; Kehrer-Sawatzki, Hildegard
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Chromosome research, 2009-05, Vol.17 (4), p.469-483
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Evolutionary hierarchies of conserved blocks in 5'-noncoding sequences of dicot rbcS genes
Author / Creator:Weeks, Katie E ; Chuzhanova, Nadia A ; Donnison, Iain S ; Scott, Ian M
Publisher:England: BioMed Central Ltd
Journal title:BMC evolutionary biology, 2007-04, Vol.7 (1), p.51-51, Article 51
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Complex gene rearrangements caused by serial replication slippage
Author / Creator:Chen, Jian-Min ; Chuzhanova, Nadia ; Stenson, Peter D. ; Férec, Claude ; Cooper, David N.
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2005-08, Vol.26 (2), p.125-134
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
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
Author / Creator:Millar, David S ; Tysoe, Carolyn ; Lazarou, Lazarus P ; Pilz, Daniela T ; Mohammed, Shehla ; Anderson, Katharine ; Chuzhanova, Nadia ; Cooper, David N ; Butler, Rachel
Publisher:England: BioMed Central
Journal title:Human genomics, 2010-08, Vol.4 (6), p.384-393
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Towards IIn Silico/I Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia
Author / Creator:Batten, Declan J ; Crofts, Jonathan J ; Chuzhanova, Nadia
Publisher:MDPI AG
Journal title:Genes, 2023-09, Vol.14 (9)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 48 results

Export record to excel

Export this record

Export record to excel

Gene conversion: mechanisms, evolution and human disease

Export this record

Export record to excel

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

Export this record

Export record to excel

Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species

Export this record

Export record to excel

Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Breakpoints of Gross Deletions Coincide with Non-B DNA Conformations

Export this record

Export record to excel

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Export this record

Export record to excel

Meta-Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

Export this record

Export record to excel

In Silico identification of pathogenic strains of Cronobacter from Biochemical data reveals association of inositol fermentation with pathogenicity

Export this record

Export record to excel

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

Export this record

Export record to excel

A meta-analysis of single base-pair substitutions in translational termination codons ('nonstop' mutations) that cause human inherited disease

Export this record

Export record to excel

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

Export this record

Export record to excel

Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes and meta-analysis of the...

Export this record

Export record to excel

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

Export this record

Export record to excel

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

Export this record

Export record to excel

Complex gene rearrangements caused by serial replication slippage

Export this record

Export record to excel

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

Export this record

Export record to excel

Towards IIn Silico/I Identification of Genes Contributing to Similarity of Patients’ Multi-Omics Profiles: A Case Study of Acute Myeloid Leukemia

Refine your search