Human Mutation

Cover image for Human Mutation

June 2008

Volume 29, Issue 6

Pages 771–890, E1–E67

  1. Publisher's Note

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
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  2. Special Article

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
  3. Review Article

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
    1. Genetic polymorphisms for the study of multifactorial stroke (pages 776–795)

      A. Bersano, E. Ballabio, N. Bresolin and L. Candelise

      Version of Record online: 17 APR 2008 | DOI: 10.1002/humu.20666

  4. Mutation Update

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
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      Mutations in the chromatin-associated protein ATRX (pages 796–802)

      Richard J. Gibbons, Takahito Wada, Christopher A. Fisher, Nicola Malik, Matthew J. Mitson, David P. Steensma, Alan Fryer, David R. Goudie, Ian D. Krantz and Joanne Traeger-Synodinos

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20734

  5. Databases

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
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      The infevers autoinflammatory mutation online registry: update with new genes and functions (pages 803–808)

      Florian Milhavet, Laurence Cuisset, Hal M. Hoffman, Rima Slim, Hatem El-Shanti, Ivona Aksentijevich, Suzanne Lesage, Hans Waterham, Carol Wise, Cyril Sarrauste de Menthiere and Isabelle Touitou

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20720

  6. Research Articles

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
    1. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance (pages 809–822)

      A.K. Lampe, Y. Zou, D. Sudano, K.K. O'Brien, D. Hicks, S.H. Laval, R. Charlton, C. Jimenez-Mallebrera, R.-Z. Zhang, R.S. Finkel, G. Tennekoon, G. Schreiber, M.S. van der Knaap, H. Marks, V. Straub, K.M. Flanigan, M.-L. Chu, F. Muntoni, K.M.D. Bushby and C.G. Bönnemann

      Version of Record online: 25 MAR 2008 | DOI: 10.1002/humu.20704

    2. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy (pages 823–831)

      Montserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Medá, Carlos Curet, Christiane Völter, Manuel Sainz-Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedín, Janine Smith, M. Cruz Tapia, Laura Cavallé, Nancy Gelvez, Paola Primignani, Elena Gómez-Rosas, Mirta Martín, Miguel A. Moreno-Pelayo, Martalucía Tamayo, José Moreno-Barral, Felipe Moreno and Ignacio del Castillo

      Version of Record online: 31 MAR 2008 | DOI: 10.1002/humu.20708

    3. Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease (pages 832–840)

      Veerle Bogaerts, Karen Nuytemans, Joke Reumers, Philippe Pals, Sebastiaan Engelborghs, Barbara Pickut, Ellen Corsmit, Karin Peeters, Joost Schymkowitz, Peter Paul De Deyn, Patrick Cras, Frederic Rousseau, Jessie Theuns and Christine Van Broeckhoven

      Version of Record online: 9 APR 2008 | DOI: 10.1002/humu.20713

    4. Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis (pages 841–851)

      Vera Hintze, Andrzej Steplewski, Hidetoshi Ito, Deborah A. Jensen, Ulrich Rodeck and Andrzej Fertala

      Version of Record online: 27 MAR 2008 | DOI: 10.1002/humu.20736

    5. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms–mismatch repair (MAPP-MMR) (pages 852–860)

      Elizabeth C. Chao, Jonathan L. Velasquez, Mavee S.L. Witherspoon, Laura S. Rozek, David Peel, Pauline Ng, Stephen B. Gruber, Patrice Watson, Gad Rennert, Hoda Anton-Culver, Henry Lynch and Steven M. Lipkin

      Version of Record online: 27 MAR 2008 | DOI: 10.1002/humu.20735

    6. A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency (pages 861–868)

      Eduardo Lopez-Granados, Jeffrey E. Keenan, Matthew C. Kinney, Harvey Leo, Neal Jain, Chi A. Ma, Ralph Quinones, Erwin W. Gelfand and Ashish Jain

      Version of Record online: 15 APR 2008 | DOI: 10.1002/humu.20740

    7. Transcriptional expression of cis-acting and trans-acting splicing mutations cause autosomal dominant retinitis pigmentosa (pages 869–878)

      María José Gamundi, Imma Hernan, Marta Muntanyola, Miquel Maseras, Pedro López-Romero, Rebeca Álvarez, Ana Dopazo, Salud Borrego and Miguel Carballo

      Version of Record online: 15 APR 2008 | DOI: 10.1002/humu.20747

  7. Methods

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
    1. A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy (pages 879–885)

      Siv Fokstuen, Robert Lyle, Analia Munoz, Corinne Gehrig, René Lerch, Andreas Perrot, Karl Josef Osterziel, Christian Geier, Maurice Beghetti, François Mach, Juan Sztajzel, Ulrich Sigwart, Stylianos E. Antonarakis and Jean-Louis Blouin

      Version of Record online: 11 APR 2008 | DOI: 10.1002/humu.20749

  8. Meeting Report

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
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  9. Mutations in Brief

    1. Top of page
    2. Publisher's Note
    3. Special Article
    4. Review Article
    5. Mutation Update
    6. Databases
    7. Research Articles
    8. Methods
    9. Meeting Report
    10. Mutations in Brief
    1. You have free access to this content
      Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin (pages E1–E12)

      Shweta Singh, Parthasarathy Satishchandra, Susarla Krishna Shankar and Subramaniam Ganesh

      Version of Record online: 29 FEB 2008 | DOI: 10.1002/humu.20737

    2. You have free access to this content
      Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating (pages E13–E26)

      Marian Kroos, Robert J. Pomponio, Laura van Vliet, Rachel E. Palmer, Michael Phipps, Robert Van der Helm, Dicky Halley and Arnold Reuser

      Version of Record online: 18 APR 2008 | DOI: 10.1002/humu.20745

    3. You have free access to this content
      Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease (pages E27–E36)

      MG Pittis, M Donnarumma, ALE Montalvo, S Dominissini, M Kroos, C Rosano, M Stroppiano, MG Bianco, MA Donati, G Parenti, A D'Amico, G Ciana, M Di Rocco, A Reuser, B Bembi and M Filocamo

      Version of Record online: 21 APR 2008 | DOI: 10.1002/humu.20753

    4. You have free access to this content
      Mutation profile of the CDH23 gene in 56 probands with Usher syndrome type I (pages E37–E46)

      A. Oshima, T. Jaijo, E. Aller, J.M. Millan, C. Carney, S. Usami, C. Moller and W.J. Kimberling

      Version of Record online: 21 APR 2008 | DOI: 10.1002/humu.20761

    5. You have free access to this content
      Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency (pages E47–E57)

      Lisa M. Bailey, Ruby A. Ivanov, Sarawut Jitrapakdee, Callum J. Wilson, John C. Wallace and Steven W. Polyak

      Version of Record online: 21 APR 2008 | DOI: 10.1002/humu.20766

    6. You have free access to this content
      Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele (pages E58–E67)

      Raül Santamaria, Helen Michelakakis, Marina Moraitou, Evangelia Dimitriou, Silvia Dominissini, Serena Grossi, Gessamí Sánchez-Ollé, Amparo Chabás, María Gabriela Pittis, Mirella Filocamo, Lluïsa Vilageliu and Daniel Grinberg

      Version of Record online: 21 APR 2008 | DOI: 10.1002/humu.20776

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