Human Mutation

Cover image for Human Mutation

January 2007

Volume 28, Issue 1

Pages 1–98

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings (pages 1–12)

      Iris Ahronowitz, Winnie Xin, Rosemary Kiely, Katherine Sims, Mia MacCollin and Fabio P. Nunes

      Version of Record online: 18 SEP 2006 | DOI: 10.1002/humu.20393

  2. Databases

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. The Italian XLMR bank: a clinical and molecular database (pages 13–18)

      C. Pescucci, R. Caselli, F. Mari, C. Speciale, F. Ariani, M. Bruttini, K. Sampieri, M.A. Mencarelli, E. Scala, I. Longo, R. Artuso, A. Renieri and I. Meloni

      Version of Record online: 18 SEP 2006 | DOI: 10.1002/humu.20411

  3. Rapid Communications

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. You have free access to this content
      Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene (pages 19–26)

      Barbara Plecko, Karl Paul, Eduard Paschke, Sylvia Stoeckler-Ipsiroglu, Eduard Struys, Cornelis Jakobs, Hans Hartmann, Thomas Luecke, Matteo di Capua, Christoph Korenke, Christiane Hikel, Elke Reutershahn, Michael Freilinger, Fritz Baumeister, Friedrich Bosch and Wolfgang Erwa

      Version of Record online: 26 OCT 2006 | DOI: 10.1002/humu.20433

    2. Deletion of the parkin and PACRG gene promoter in early-onset parkinsonism (pages 27–32)

      Suzanne Lesage, Periquet Magali, Ebba Lohmann, Lucette Lacomblez, Helio Teive, Sabine Janin, Pierre-Yves Cousin, Alexandra Dürr and Alexis Brice

      Version of Record online: 26 OCT 2006 | DOI: 10.1002/humu.20436

  4. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. Mineralocorticoid receptor mutations are the principal cause of renal type 1 pseudohypoaldosteronism (pages 33–40)

      Lucie Pujo, Jérôme Fagart, Françoise Gary, Dimitris T. Papadimitriou, Aurélie Claës, Xavier Jeunemaître and Maria-Christina Zennaro

      Version of Record online: 13 SEP 2006 | DOI: 10.1002/humu.20371

    2. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia (pages 41–53)

      El Chérif Ibrahim, Matthew M. Hims, Noam Shomron, Christopher B. Burge, Susan A. Slaugenhaupt and Robin Reed

      Version of Record online: 8 SEP 2006 | DOI: 10.1002/humu.20401

    3. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A (pages 54–60)

      Nadja Bogdanova, Arseni Markoff, Roswith Eisert, Cornelia Wermes, Hartmut Pollmann, Albena Todorova, Marcin Chlystun, Ulrike Nowak-Göttl and Jürgen Horst

      Version of Record online: 13 SEP 2006 | DOI: 10.1002/humu.20403

    4. Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation–contraction (EC) coupling by distinct mechanisms (pages 61–68)

      Alla D. Lyfenko, Sylvie Ducreux, Ying Wang, Le Xu, Francesco Zorzato, Ana Ferreiro, Gerhard Meissner, Susan Treves and Robert T. Dirksen

      Version of Record online: 6 SEP 2006 | DOI: 10.1002/humu.20409

    5. Somatic microindels: analysis in mouse soma and comparison with the human germline (pages 69–80)

      Kelly D. Gonzalez, Kathleen A. Hill, Kai Li, Wenyan Li, William A. Scaringe, Ji-Cheng Wang, Dongqing Gu and Steve S. Sommer

      Version of Record online: 14 SEP 2006 | DOI: 10.1002/humu.20416

    6. You have free access to this content
      Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling (pages 81–91)

      Valérie Pelletier, Marguerite Jambou, Nathalie Delphin, Elena Zinovieva, Morgane Stum, Nadine Gigarel, Hélène Dollfus, Christian Hamel, Annick Toutain, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Jean-Paul Bonnefont, Josseline Kaplan and Jean-Michel Rozet

      Version of Record online: 12 SEP 2006 | DOI: 10.1002/humu.20417

    7. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships (pages 92–96)

      Elena Botta, Judith Offman, Tiziana Nardo, Roberta Ricotti, Giovanna Zambruno, Daniela Sansone, Paolo Balestri, Anja Raams, Wim J. Kleijer, Nicolaas G.J. Jaspers, Alain Sarasin, Alan R. Lehmann and Miria Stefanini

      Version of Record online: 14 SEP 2006 | DOI: 10.1002/humu.20419

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Mutations in Brief
    1. You have free access to this content
    2. You have free access to this content
      Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis (pages 97–98)

      Catherine Dodé, Corinne Fouveaut, Geert Mortier, Sandra Janssens, Jérôme Bertherat, Jacques Mahoudeau, Marie-Laure Kottler, Christine Chabrolle, Antoine Gancel, Inge François, Koen Devriendt, Slawomir Wolczynski, Michel Pugeat, Alfons Pineiro-Garcia, Arnaud Murat, Philippe Bouchard, Jacques Young, Marc Delpech and Jean-Pierre Hardelin

      Version of Record online: 8 DEC 2006 | DOI: 10.1002/humu.9470

    3. You have free access to this content
      Microsatellite in the 3′ untranslated region of human fibroblast growth factor 9 (FGF9) gene exhibits pleiotropic effect on modulating FGF9 protein expression (page 98)

      Tsung-Ming Chen, Pao-Lin Kuo, Chien-Hui Hsu, Shaw-Jenq Tsai, Mong-Jen Chen, Chieh-Wei Lin and H. Sunny Sun

      Version of Record online: 8 DEC 2006 | DOI: 10.1002/humu.9471

    4. You have free access to this content
      Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum (page 98)

      Roberta Marongiu, Francesco Brancati, Angelo Antonini, Tamara Ialongo, Caterina Ceccarini, Oronzo Scarciolla, Anna Capalbo, Riccardo Benti, Gianni Pezzoli, Bruno Dallapiccola, Stefano Goldwurm and Enza Maria Valente

      Version of Record online: 8 DEC 2006 | DOI: 10.1002/humu.9472

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