Human Mutation

Cover image for Human Mutation

September 2006

Volume 27, Issue 9

Pages 833–976

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Major affective disorders and schizophrenia: a common molecular signature? (pages 833–853)

      Ann Van Den Bogaert, Jurgen Del-Favero and Christine Van Broeckhoven

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.20369

  2. Mutation Updates

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
  3. Databases

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
  4. Rapid Communications

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment (pages 888–896)

      J. Theuns, E. Marjaux, M. Vandenbulcke, K. Van Laere, S. Kumar-Singh, G. Bormans, N. Brouwers, M. Van den Broeck, K. Vennekens, E. Corsmit, M. Cruts, B. De Strooper, C. Van Broeckhoven and R. Vandenberghe

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.20402

  5. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Variable pathogenic potentials of mutations located in the desmin alpha-helical domain (pages 906–913)

      Bertrand Goudeau, Fernando Rodrigues-Lima, Dirk Fischer, Monique Casteras-Simon, Nyamkhishig Sambuughin, Marianne de Visser, Pascal Laforet, Xavier Ferrer, Françoise Chapon, Gunnar Sjöberg, Anna Kostareva, Thomas Sejersen, Marinos C. Dalakas, Lev G. Goldfarb and Patrick Vicart

      Article first published online: 24 JUL 2006 | DOI: 10.1002/humu.20351

    2. Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients (pages 914–920)

      Arvid Suls, Kristl G. Claeys, Dirk Goossens, Boris Harding, Rob Van Luijk, Stefaan Scheers, Liesbet Deprez, Dominique Audenaert, Tine Van Dyck, Sabine Beeckmans, Iris Smouts, Berten Ceulemans, Lieven Lagae, Gunnar Buyse, Nina Barisic, Jean-Paul Misson, Jan Wauters, Jurgen Del-Favero, Peter De Jonghe and Lieve R.F. Claes

      Article first published online: 24 JUL 2006 | DOI: 10.1002/humu.20350

    3. Ethnic variation in AMD-associated complement factor H polymorphism p.Tyr402His (pages 921–925)

      Michael A. Grassi, John H. Fingert, Todd E. Scheetz, Benjamin R. Roos, Robert Ritch, Sheila K. West, Kazuhide Kawase, Abdirashid M. Shire, Robert F. Mullins and Edwin M. Stone

      Article first published online: 24 JUL 2006 | DOI: 10.1002/humu.20359

    4. Structural assessment of single amino acid mutations: application to TP53 function (pages 926–937)

      Yum L. Yip, Vincent Zoete, Holger Scheib and Olivier Michielin

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.20379

    5. Duplications in the DMD gene (pages 938–945)

      S.J. White, A. Aartsma-Rus, K.M. Flanigan, R.B. Weiss, A.L.J. Kneppers, T. Lalic, A.A.M. Janson, H.B. Ginjaar, M.H. Breuning and J.T. den Dunnen

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.20367

    6. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy (pages 946–956)

      Vilma-Lotta Lehtokari, Katarina Pelin, Maria Sandbacka, Salla Ranta, Kati Donner, Francesco Muntoni, Caroline Sewry, Corrado Angelini, Kate Bushby, Peter Van den Bergh, Susan Iannaccone, Nigel G. Laing and Carina Wallgren-Pettersson

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.20370

  6. Methods

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. An automated procedure to identify biomedical articles that contain cancer-associated gene variants (pages 957–964)

      Ryan McDonald, R. Scott Winters, Claire K. Ankuda, Joan A. Murphy, Amy E. Rogers, Fernando Pereira, Marc S. Greenblatt and Peter S. White

      Article first published online: 24 JUL 2006 | DOI: 10.1002/humu.20363

    2. Human mtDNA site-specific variability values can act as haplogroup markers (pages 965–974)

      Matteo Accetturo, Monica Santamaria, Daniela Lascaro, Francesco Rubino, Alessandro Achilli, Antonio Torroni, Mila Tommaseo-Ponzetta and Marcella Attimonelli

      Article first published online: 24 JUL 2006 | DOI: 10.1002/humu.20365

  7. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene (page 975)

      B.C. Murphy, C.R. Scriver and S.M. Singh

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.9447

    2. You have free access to this content
      Population distribution of the functional caspase-12 allele (page 975)

      Kritika Kachapati, Thomas R. O'Brien, Julie Bergeron, Mingdong Zhang and Michael Dean

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.9448

    3. You have free access to this content
      Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations (pages 975–976)

      Wiktor Borozdin, Ana M. Bravo Ferrer Acosta, Michael J. Bamshad, Elke M. Botzenhart, Ursula G. Froster, Johannes Lemke, Albert Schinzel, Stephanie Spranger, Julie McGaughran, Dorothea Wand, Krystyna H. Chrzanowska and Jürgen Kohlhase

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.9449

    4. You have free access to this content
      Three novel thiopurine S-methyltransferase allelic variants (TPMT*20, *21, *22) – association with decreased enzyme function (page 976)

      Elke Schaeffeler, Michel Eichelbaum, Walter Reinisch, Ulrich M. Zanger and Matthias Schwab

      Article first published online: 17 AUG 2006 | DOI: 10.1002/humu.9450

SEARCH

SEARCH BY CITATION