Human Mutation

Cover image for Human Mutation

January 2009

Volume 30, Issue 1

Pages v–vii, 1–133

  1. Publisher's Note

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. You have free access to this content
  2. In This Issue

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. You have free access to this content
      MITOMASTER: A model for Locus-Specific Mutation Databases (page vii)

      Richard G.H. Cotton

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20963

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      Steps toward restoring functional dystrophin expression (page vii)

      Michel Goossens

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20964

    3. You have free access to this content
  3. Databases

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. You have free access to this content
      MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences (pages 1–6)

      Marty C. Brandon, Eduardo Ruiz-Pesini, Dan Mishmar, Vincent Procaccio, Marie T. Lott, Kevin Cuong Nguyen, Syawal Spolim, Upen Patil, Pierre Baldi and Douglas C. Wallace

      Article first published online: 19 JUN 2008 | DOI: 10.1002/humu.20801

  4. Rapid Communication

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. You have free access to this content
      IDH1 mutations at residue p.R132 (IDH1R132) occur frequently in high-grade gliomas but not in other solid tumors (pages 7–11)

      Fonnet E. Bleeker, Simona Lamba, Sieger Leenstra, Dirk Troost, Theo Hulsebos, W. Peter Vandertop, Milo Frattini, Francesca Molinari, Margaret Knowles, Aniello Cerrato, Monica Rodolfo, Aldo Scarpa, Lara Felicioni, Fiamma Buttitta, Sara Malatesta, Antonio Marchetti and Alberto Bardelli

      Article first published online: 31 DEC 2008 | DOI: 10.1002/humu.20937

  5. Research Articles

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk (pages 12–21)

      M. Mitui, S.A. Nahas, L.T. Du, Z. Yang, C.H. Lai, K. Nakamura, S. Arroyo, S. Scott, A. Purayidom, P. Concannon, M. Lavin and R.A. Gatti

      Article first published online: 16 JUL 2008 | DOI: 10.1002/humu.20805

    2. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations (pages 29–38)

      W. Edward Visser, Jurgen Jansen, Edith C.H. Friesema, Monique H.A. Kester, Edna Mancilla, Johan Lundgren, Marjo S. van der Knaap, Roelineke J. Lunsing, Oebele F. Brouwer and Theo J. Visser

      Article first published online: 17 JUL 2008 | DOI: 10.1002/humu.20808

    3. Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif (pages 39–48)

      Nick M. Makridakis, Lúcio Fábio Caldas Ferraz and Juergen K.V. Reichardt

      Article first published online: 11 JUL 2008 | DOI: 10.1002/humu.20810

    4. Lipoprotein lipase variants associated with an endophenotype of hypertension: hypertension combined with elevated triglycerides (pages 49–55)

      Pei Chen, Yuh-Shan Jou, Cathy SJ Fann, Jaw-Wen Chen, Chia-Min Chung, Chin-Yu Lin, Sheng-Yeu Wu, Mei-Jyh Kang, Ying-Chuang Chen, Yuh-Shiun Jong, Huey-Ming Lo, Chih-Sen Kang, Chien-Chung Chen, Huan-Cheng Chang, Nai-Kuei Huang, Yi-Lin Wu and Wen-Harn Pan

      Article first published online: 22 JUL 2008 | DOI: 10.1002/humu.20812

    5. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases (pages 56–60)

      Sabrina Mitchell, Clint Ellingson, Thomas Coyne, Lynn Hall, Meaghan Neill, Natalie Christian, Catherine Higham, Steven F. Dobrowolski, Mendel Tuchman and Marshall Summar

      Article first published online: 29 JUL 2008 | DOI: 10.1002/humu.20813

    6. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation (pages 61–68)

      Vera M. Kalscheuer, Luciana Musante, Cheng Fang, Kirsten Hoffmann, Celine Fuchs, Eloisa Carta, Emma Deas, Kanamarlapudi Venkateswarlu, Corinna Menzel, Reinhard Ullmann, Niels Tommerup, Leda Dalprà, Andreas Tzschach, Angelo Selicorni, Bernhard Lüscher, Hans-Hilger Ropers, Kirsten Harvey and Robert J. Harvey

      Article first published online: 9 JUL 2008 | DOI: 10.1002/humu.20814

    7. Ancestry informative marker sets for determining continental origin and admixture proportions in common populations in America (pages 69–78)

      Roman Kosoy, Rami Nassir, Chao Tian, Phoebe A. White, Lesley M. Butler, Gabriel Silva, Rick Kittles, Marta E. Alarcon-Riquelme, Peter K. Gregersen, John W. Belmont, Francisco M. De La Vega and Michael F. Seldin

      Article first published online: 6 AUG 2008 | DOI: 10.1002/humu.20822

    8. Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women (pages 79–84)

      Zhibin Hu, Jie Liang, Zhanwei Wang, Tian Tian, Xiaoyi Zhou, Jiaping Chen, Ruifen Miao, Yan Wang, Xinru Wang and Hongbing Shen

      Article first published online: 16 JUL 2008 | DOI: 10.1002/humu.20837

    9. Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines (pages 93–98)

      Merel S. Ebberink, Petra A.W. Mooyer, Janet Koster, Conny J.M. Dekker, François J.M. Eyskens, Carlo Dionisi-Vici, Peter T. Clayton, Peter G. Barth, Ronald J.A. Wanders and Hans R. Waterham

      Article first published online: 19 AUG 2008 | DOI: 10.1002/humu.20833

  6. Methods

    1. Top of page
    2. Publisher's Note
    3. In This Issue
    4. Databases
    5. Rapid Communication
    6. Research Articles
    7. Methods
    1. You have free access to this content
      Intronic variants in BRCA1 and BRCA2 that affect RNA splicing can be reliably selected by splice-site prediction programs (pages 107–114)

      Maaike P.G. Vreeswijk, Jaennelle N. Kraan, Heleen M. van der Klift, Geraldine R. Vink, Cees J. Cornelisse, Juul T. Wijnen, Egbert Bakker, Christi J. van Asperen and Peter Devilee

      Article first published online: 8 AUG 2008 | DOI: 10.1002/humu.20811

    2. Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes (pages 115–122)

      Anne Hartmann, Marian Thieme, Lahiri K. Nanduri, Thomas Stempfl, Christoph Moehle, Toomas Kivisild and Peter J. Oefner

      Article first published online: 11 JUL 2008 | DOI: 10.1002/humu.20816

    3. A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significance (pages 123–133)

      Maria Adelaide Caligo, Fabrizia Bonatti, Lucia Guidugli, Paolo Aretini and Alvaro Galli

      Article first published online: 4 AUG 2008 | DOI: 10.1002/humu.20817

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