Human Mutation

Cover image for Human Mutation

January 2005

Volume 25, Issue 1

Pages 1–100

  1. Databases

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. HAEdb: A novel interactive, locus-specific mutation database for the C1 inhibitor gene (pages 1–5)

      Lajos Kalmár, Tamás Hegedüs, Henriette Farkas, Melinda Nagy and Attila Tordai

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20112

  2. Rapid Communications

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. Variations in human HM74 (GPR109B) and HM74A (GPR109A) niacin receptors (pages 18–21)

      Christian Zellner, Clive R. Pullinger, Bradley E. Aouizerat, Philip H. Frost, Pui-Yan Kwok, Mary J. Malloy and John P. Kane

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20121

    2. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes (pages 22–27)

      Ornella Massa, Dario Iafusco, Elena D'Amato, Anna L. Gloyn, Andrew T. Hattersley, Bruno Pasquino, Giorgio Tonini, Francesco Dammacco, Giorgio Zanette, Franco Meschi, Ottavia Porzio, Gianfranco Bottazzo, Antonino Crinó, Renata Lorini, Franco Cerutti, Maurizio Vanelli and Fabrizio Barbetti

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20124

  3. Research Articles

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients (pages 28–37)

      Fransiska Malfait, Paul Coucke, Sofie Symoens, Bart Loeys, Lieve Nuytinck and Anne De Paepe

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20107

    2. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations (pages 38–44)

      Patrick Frosk, Cheryl R. Greenberg, Alysa A.P. Tennese, Ryan Lamont, Edward Nylen, Cheryl Hirst, Danielle Frappier, Nicole M. Roslin, Michaela Zaik, Kate Bushby, Volker Straub, Mayana Zatz, Flavia de Paula, Kenneth Morgan, T. Mary Fujiwara and Klaus Wrogemann

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20110

    3. Breakpoint analysis of the pericentric inversion distinguishing human chromosome 4 from the homologous chromosome in the chimpanzee (Pan troglodytes) (pages 45–55)

      Hildegard Kehrer-Sawatzki, Catharina Sandig, Nadia Chuzhanova, Violaine Goidts, Justyna M. Szamalek, Simone Tänzer, Stefan Müller, Matthias Platzer, David N. Cooper and Horst Hameister

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20116

    4. DNMT3B mutations and DNA methylation defect define two types of ICF syndrome (pages 56–63)

      Y.L. Jiang, M. Rigolet, D. Bourc'his, F. Nigon, I. Bokesoy, J.P. Fryns, M. Hultén, P. Jonveaux, P. Maraschio, A. Mégarbané, A. Moncla and E. Viegas-Péquignot

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20113

    5. Molecular and functional analysis of intragenic SMN1 mutations in patients with spinal muscular atrophy (pages 64–71)

      Y. Sun, M. Grimmler, V. Schwarzer, F. Schoenen, U. Fischer and B. Wirth

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20111

    6. Molecular and muscle pathology in a series of caveolinopathy patients (pages 82–89)

      Luigi Fulizio, Anna Chiara Nascimbeni, Marina Fanin, Giulio Piluso, Luisa Politano, Vincenzo Nigro and Corrado Angelini

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20119

    7. Phenotology of disease-linked proteins (pages 90–97)

      Jeffrey K. Myers, Lauren A. Beihoffer and Charles R. Sanders

      Version of Record online: 3 DEC 2004 | DOI: 10.1002/humu.20118

  4. Mutations in Brief

    1. Top of page
    2. Databases
    3. Rapid Communications
    4. Research Articles
    5. Mutations in Brief
    1. You have free access to this content
      The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) (page 98)

      Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg and Frank Rutsch

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9297

    2. You have free access to this content
      Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 (KAL2) (pages 98–99)

      Juliette Albuisson, Chistophe Pêcheux, Jean-Claude Carel, Didier Lacombe, Bruno Leheup, Pablo Lapuzina, Philippe Bouchard, Eric Legius, Gert Matthijs, Malgorzata Wasniewska, Marc Delpech, Jacques Young, Jean-Pierre Hardelin and Catherine Dodé

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9298

    3. You have free access to this content
      Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients (page 99)

      Javier Alonso, Helena Frayle, Ibis Menéndez, Andrés López, Purificación García-Miguel, José Abelairas, Enric Sarret, M. Teresa Vendrell, Aurora Navajas, Mercé Artigas, José M. Indiano, Ana Carbone, Christian Torrenteras, Itziar Palacios and Angel Pestaña

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9299

    4. You have free access to this content
      Wolfram syndrome in French population: Characterization of novel mutations and polymorphisms in the WFS1 gene (pages 99–100)

      Fabienne Giuliano, Sylvie Bannwarth, Sophie Monnot, Aline Cano, Brigitte Chabrol, Bernard Vialettes, Bruno Delobel and Veronique Paquis-Flucklinger

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9300

    5. You have free access to this content
      Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1 (page 100)

      Snježana Miočić, Mirella Filocamo, Silvia Dominissini, Anna Lisa E. Montalvo, Kristian Vlahoviček, Marta Deganuto, Raffaella Mazzotti, Roberta Cariati, Bruno Bembi and Maria Gabriela Pittis

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9301

    6. You have free access to this content
      Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree (page 100)

      Christian G. Meyer, Nagla M. Gasmelseed, Adil Mergani, Mubarak M.A. Magzoub, Birgit Muntau, Thorsten Thye and Rolf D. Horstmann

      Version of Record online: 16 DEC 2004 | DOI: 10.1002/humu.9302

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