Результаты поиска - Nadia Chuzhanova

  • Отображение 1 - 20 результаты of 20
Отмена результатов
  1. 1
    Feature selection for genetic sequence classification.

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

    Опубликовано 1998
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Shaun S. Abeysinghe, Nadia Chuzhanova, Michael Krawczak, Edward V. Ball, D.N. Cooper

    Опубликовано 2003
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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? по Adila Al‐Kindy, Nadia Chuzhanova, Usha Kini, D.N. Cooper, Meena Upadhyaya

    Опубликовано 2012
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Nadia Chuzhanova, Emmanuel J. Anassis, Edward V. Ball, Michael Krawczak, D.N. Cooper

    Опубликовано 2002
    Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  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 по Jian‐Min Chen, Nadia Chuzhanova, Peter D. Stenson, Claude Férec, D.N. Cooper

    Опубликовано 2005
    Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  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 по D.N. Cooper, Matthew Mort, Peter D. Stenson, Edward V. Ball, Nadia Chuzhanova

    Опубликовано 2010
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  7. 7
    Complex gene rearrangements caused by serial replication slippage

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

    Опубликовано 2005
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Kevin E. Ashelford, Nadia Chuzhanova, John C. Fry, Antonia J. Jones, Andrew J. Weightman

    Опубликовано 2006
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Kevin E. Ashelford, Nadia Chuzhanova, John C. Fry, Antonia J. Jones, Andrew J. Weightman

    Опубликовано 2005
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Edward V. Ball, Peter D. Stenson, Shaun S. Abeysinghe, Michael Krawczak, D.N. Cooper, Nadia Chuzhanova

    Опубликовано 2005
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Cédric Le Maréchal, Jian‐Min Chen, C. Gall, Ghislaine Plessis, J Chipponi, Nadia Chuzhanova, Odile Raguénès, Claude Férec

    Опубликовано 2004
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Nadia Chuzhanova, Jian‐Min Chen, Albino Bacolla, George P. Patrinos, Claude Férec, Robert D. Wells, D.N. Cooper

    Опубликовано 2009
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya

    Опубликовано 2009
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  14. 14
    Breakpoints of gross deletions coincide with non-B DNA conformations

    Breakpoints of gross deletions coincide with non-B DNA conformations по 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

    Опубликовано 2004
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по Kiran K. Mantripragada, Gillian Spurlock, Lan Kluwe, Nadia Chuzhanova, Rosalie E. Ferner, Ian M. Frayling, Jan P. Dumanski, Abhijit Guha, Victor Mautner, Meena Upadhyaya

    Опубликовано 2008
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по 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

    Опубликовано 2007
    Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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 по 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

    Опубликовано 2010
    Полный текст
    Revisão
    Добавить в Избранное
    Сохранить в:
  18. 18
    Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species

    Comparative Analysis of Genome Sequences Covering the Seven Cronobacter Species по 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

    Опубликовано 2012
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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... по 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

    Опубликовано 2006
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:
  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... по 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

    Опубликовано 2006
    Полный текст Полный текст
    Artigo
    Добавить в Избранное
    Сохранить в:

Инструменты поиска: