Human Mutation

Cover image for Human Mutation

September 2003

Volume 22, Issue 3

Pages 181–259

  1. Editorial

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. You have free access to this content
      Standardizing mutation nomenclature: Why bother? (pages 181–182)

      Johan T. den Dunnen and Mark H. Paalman

      Version of Record online: 24 JUL 2003 | DOI: 10.1002/humu.10262

  2. Mutation Update

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
  3. Databases

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database (pages 199–208)

      Gwenaëlle Collod-Béroud, Saga Le Bourdelles, Lesley Ades, Leena Ala-Kokko, Patrick Booms, Maureen Boxer, Anne Child, Paolo Comeglio, Anne De Paepe, James C. Hyland, Katerine Holman, Ilkka Kaitila, Bart Loeys, Gabor Matyas, Lieve Nuytinck, Leena Peltonen, Terhi Rantamaki, Peter Robinson, Beat Steinmann, Claudine Junien, Christophe Béroud and Catherine Boileau

      Version of Record online: 29 JUL 2003 | DOI: 10.1002/humu.10249

    2. Trimethylaminuria and a human FMO3 mutation database (pages 209–213)

      Diana Hernandez, Sarah Addou, David Lee, Christine Orengo, Elizabeth A. Shephard and Ian R. Phillips

      Version of Record online: 24 JUL 2003 | DOI: 10.1002/humu.10252

  4. Methods

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. Genotyping African haplotypes in ATM using a co-spotted single-base extension assay (pages 214–221)

      Maneesh Jain, Yvonne R. Thorstenson, David M. Faulkner, Nader Pourmand, Ted Jones, Melinda Au, Peter J. Oefner, Kevin P. White and Ronald W. Davis

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/humu.10250

  5. Research Articles

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. Comparative analysis of the FOXL2 gene and characterization of mutations in BPES patients (pages 222–228)

      Nitin Udar, Vivek Yellore, Meenal Chalukya, Svetlana Yelchits, Rosamaria Silva-Garcia and Kent Small

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/humu.10251

    2. Translocation and gross deletion breakpoints in human inherited disease and cancer I: Nucleotide composition and recombination-associated motifs (pages 229–244)

      Shaun S. Abeysinghe, Nadia Chuzhanova, Michael Krawczak, Edward V. Ball and David N. Cooper

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/humu.10254

  6. Letter to the Editors

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. Negligible validation rate for public domain stop-codon SNPs (pages 252–254)

      Sarah L. Sawyer, Linda C. Berglind and Anthony J. Brookes

      Version of Record online: 29 JUL 2003 | DOI: 10.1002/humu.10256

  7. Erratum

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. Spectrum of sequence variation in the FANCG gene: An International Fanconi Anemia Registry (IFAR) study (page 255)

      Arleen D. Auerbach, Jason Greenbaum, Kanan Pujara, Sat Dev Batish, Marco A. Bitencourt, Indira Kokemohr, Hildegard Schneider, Stephan Lobitz, Ricardo Pasquini, Philip F. Giampietro, Helmut Hanenberg and Orna Levran

      Version of Record online: 29 JUL 2003 | DOI: 10.1002/humu.10266

    2. ATM gene alterations in childhood acute lymphoblastic leukemias (page 256)

      Fabienne Gumy Pause, Pierre Wacker, Philippe Maillet, David Betts and André-Pascal Sappino

      Version of Record online: 31 JUL 2003 | DOI: 10.1002/humu.10267

  8. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Databases
    5. Methods
    6. Research Articles
    7. Letter to the Editors
    8. Erratum
    9. Mutations in Brief
    1. You have free access to this content
      Association analysis of novel TBX21 variants with asthma phenotypes (page 257)

      Hun Taek Chung, Lyoung Hyo Kim, Byung Lae Park, June Hyuk Lee, Hae-Sim Park, Byoung Whui Choi, Soo-Jong Hong, Soo Cheon Chae, Jeong Joong Kim, Choon-Sik Park and Hyoung Doo Shin

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9169

    2. You have free access to this content
      Identification of novel variants in transforming growth factor-beta 1 (TGFB1) gene and association analysis with bone mineral density (pages 257–258)

      Byung Lae Park, In Kwon Han, Ho Sa Lee, Lyoung Hyo Kim, Sa Jin Kim and Hyoung Doo Shin

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9170

    3. You have free access to this content
    4. You have free access to this content
      Molecular analysis in Fabry disease in Spain: Fifteen novel GLA mutations and identification of a homozygous female (page 258)

      Adriana Rodríguez-Marí, M. José Coll and Amparo Chabás

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9172

    5. You have free access to this content
      CFTR mutations in patients from Colombia: Implications for local and regional molecular diagnosis programs (page 259)

      Genoveva Keyeux, Clemencia Rodas, Thierry Bienvenu, Pilar Garavito, Dominique Vidaud, Dora Sanchez, Jean-Claude Kaplan and Gustavo Aristizábal

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9173

    6. You have free access to this content
      Twenty-three novel BRCA1 and BRCA2 sequence alterations in breast and/or ovarian cancer families in Southern Germany (page 259)

      Peter Meyer, Theda Voigtlaender, Claus R. Bartram and Ruediger Klaes

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9174

    7. You have free access to this content
      Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect (page 259)

      Carina M. Rivolta, Sebastián A. Esperante, Laura Gruñeiro-Papendieck, Ana Chiesa, Christian M. Moya, Sabina Domené, Viviana Varela and Héctor M. Targovnik

      Version of Record online: 14 AUG 2003 | DOI: 10.1002/humu.9175

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