Risultati della ricerca - Nadia Chuzhanova

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  1. 1
    Feature selection for genetic sequence classification.

    Feature selection for genetic sequence classification. di Nadia Chuzhanova, Alan J. Jones, Steve Margetts

    Pubblicazione 1998
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  2. 2
    Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs

    Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs di Shaun S. Abeysinghe, Nadia Chuzhanova, Michael Krawczak, Edward V. Ball, D.N. Cooper

    Pubblicazione 2003
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  3. 3
    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations?

    Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1splice-site mutations? di Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya

    Pubblicazione 2012
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  4. 4
    Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity

    Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity di Nadia Chuzhanova, Emmanuel J. Anassis, Edward V. Ball, Michael Krawczak, D.N. Cooper

    Pubblicazione 2002
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  5. 5
    Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage

    Meta‐Analysis of gross insertions causing human genetic disease: Novel mutational mechanisms and the role of replication slippage di Jian‐Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec, D.N. Cooper

    Pubblicazione 2005
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  6. 6
    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

    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 di D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova

    Pubblicazione 2010
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  7. 7
    Complex gene rearrangements caused by serial replication slippage

    Complex gene rearrangements caused by serial replication slippage di Jian‐Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec, D.N. Cooper

    Pubblicazione 2005
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  8. 8
    New Screening Software Shows that Most Recent Large 16S rRNA Gene Clone Libraries Contain Chimeras

    New Screening Software Shows that Most Recent Large 16S rRNA Gene Clone Libraries Contain Chimeras di Kevin E. Ashelford, Nadia Chuzhanova, John C. Fry, Antonia J. Jones, Andrew J. Weightman

    Pubblicazione 2006
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  9. 9
    At Least 1 in 20 16S rRNA Sequence Records Currently Held in Public Repositories Is Estimated To Contain Substantial Anomalies

    At Least 1 in 20 16S rRNA Sequence Records Currently Held in Public Repositories Is Estimated To Contain Substantial Anomalies di Kevin E. Ashelford, Nadia Chuzhanova, John C. Fry, Antonia J. Jones, Andrew J. Weightman

    Pubblicazione 2005
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  10. 10
    Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity

    Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity di Edward V. Ball, Peter D. Stenson, Shaun S. Abeysinghe, Michael Krawczak, D.N. Cooper, Nadia Chuzhanova

    Pubblicazione 2005
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  11. 11
    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis

    Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene ( <i>SPINK1</i> ) cause familial and/or hereditary pancreatitis di Cédric Le Maréchal, Jian‐Min Chen, C. Gall, Ghislaine Plessis, J Chipponi, Nadia Chuzhanova, Odile Raguénès, Claude Férec

    Pubblicazione 2004
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  12. 12
    Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair

    Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair di Nadia Chuzhanova, Jian‐Min Chen, Albino Bacolla, George P. Patrinos, Claude Férec, Robert D. Wells, D.N. Cooper

    Pubblicazione 2009
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  13. 13
    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype

    SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype di Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya

    Pubblicazione 2009
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  14. 14
    Breakpoints of gross deletions coincide with non-B DNA conformations

    Breakpoints of gross deletions coincide with non-B DNA conformations di Albino Bacolla, Adam Jaworski, Jacquelynn E. Larson, John P. Jakupciak, Nadia Chuzhanova, Shaun S. Abeysinghe, Catherine D. O’Connell, D.N. Cooper, Robert D. Wells

    Pubblicazione 2004
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  15. 15
    High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization

    High-Resolution DNA Copy Number Profiling of Malignant Peripheral Nerve Sheath Tumors Using Targeted Microarray-Based Comparative Genomic Hybridization di Kiran K. Mantripragada, Gillian Spurlock, Lan Kluwe, Nadia Chuzhanova, Rosalie E. Ferner, Ian M. Frayling, Jan P. Dumanski, Abhijit Guha, Victor Mautner, Meena Upadhyaya

    Pubblicazione 2008
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  16. 16
    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

    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 di Katharina Steinmann, D.N. Cooper, Lan Kluwe, Nadia Chuzhanova, Cornelia Senger, Eduard Serra, Conxi Lázaro, Montserrat Gilaberte, Katharina Wimmer, Viktor-Felix Mautner, Hildegard Kehrer‐Sawatzki

    Pubblicazione 2007
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  17. 17
    Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

    Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics di D.N. Cooper, Jian‐Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer‐Sawatzki, Peter D. Stenson

    Pubblicazione 2010
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  18. 18
    Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species

    Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species di Susan Joseph, Prerak Desai, Yongmei Ji, Craig Cummings, Rita Shih, Lovorka Degoricija, Alain Rico, Pius Brzoska, Stephen E. Hamby, Naqash Masood, Sumyya Hariri, Hana Sonbol, Nadia Chuzhanova, Michael McClelland, Manohar R. Furtado, Stephen Forsythe

    Pubblicazione 2012
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  19. 19
    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 underlying mechanisms

    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 m... di Claude Férec, Teresa Casals, Nadia Chuzhanova, Milan Maçek, Thierry Bienvenu, A. Holubová, Caitriona King, Trudi McDevitt, Carlo Castellani, Philip M. Farrell, Molly B. Sheridan, Sarah‐Jane Pantaleo, Ourida Loumi, Taïeb Messaoud, Harry Cuppens, Francesca Torricelli, Garry R. Cutting, Robert Williamson, Maria Jesus Alonso Ramos, Pier Franco Pignatti, Odile Raguénès, D.N. Cooper, Marie‐Pierre Audrézet, Jian‐Min Chen

    Pubblicazione 2006
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  20. 20
    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phenotype Correlation

    An Absence of Cutaneous Neurofibromas Associated with a 3-bp Inframe Deletion in Exon 17 of the NF1 Gene (c.2970-2972 delAAT): Evidence of a Clinically Significant NF1 Genotype-Phe... di Meena Upadhyaya, Susan Huson, D. M. Davies, N S Thomas, Nadia Chuzhanova, Sara Giovannini, D. Gareth Evans, Elizabeth Howard, Bronwyn Kerr, S. W. Griffiths, Claudia Consoli, Lucy Side, Darius J. Adams, Mary Ella Pierpont, Rachel K. Hachen, Angela Barnicoat, H. Li, P L Wallace, J.P. Van Biervliet, David A. Stevenson, David Viskochil, Diana Baralle, Eric Haan, Vincent M. Riccardi, Peter D. Turnpenny, Conxi Lázaro, Ludwine Messiaen

    Pubblicazione 2006
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