Human Mutation

Cover image for Human Mutation

April 2007

Volume 28, Issue 4

Pages 313–416

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Research Articles
    5. Letters to the Editor
    6. Mutations in Brief
    1. ZFHX1B mutations in patients with Mowat-Wilson syndrome (pages 313–321)

      Florence Dastot-Le Moal, Meredith Wilson, David Mowat, Nathalie Collot, Florence Niel and Michel Goossens

      Version of Record online: 3 JAN 2007 | DOI: 10.1002/humu.20452

    2. RPGR mutation analysis and disease: an update (pages 322–328)

      Xinhua Shu, Graeme C. Black, Jacqueline M. Rice, Niki Hart-Holden, Alison Jones, Anna O'Grady, Simon Ramsden and Alan F. Wright

      Version of Record online: 28 DEC 2006 | DOI: 10.1002/humu.20461

  2. Databases

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Research Articles
    5. Letters to the Editor
    6. Mutations in Brief
    1. You have free access to this content
      Italian Rett database and biobank (pages 329–335)

      Katia Sampieri, Ilaria Meloni, Elisa Scala, Francesca Ariani, Rossella Caselli, Chiara Pescucci, Ilaria Longo, Rosangela Artuso, Mirella Bruttini, Maria Antonietta Mencarelli, Caterina Speciale, Vincenza Causarano, Giuseppe Hayek, Michele Zappella, Alessandra Renieri and Francesca Mari

      Version of Record online: 21 DEC 2006 | DOI: 10.1002/humu.20453

  3. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Research Articles
    5. Letters to the Editor
    6. Mutations in Brief
    1. Novel mutations in the small leucine-rich repeat protein/proteoglycan (SLRP) genes in high myopia (pages 336–344)

      Marja Majava, Paul N. Bishop, Pasi Hägg, Paul G. Scott, Aine Rice, Chris Inglehearn, Christopher J. Hammond, Tim D. Spector, Leena Ala-Kokko and Minna Männikkö

      Version of Record online: 20 NOV 2006 | DOI: 10.1002/humu.20444

    2. Identification and computationally-based structural interpretation of naturally occurring variants of human protein C (pages 345–355)

      Ermanna Rovida, Giuliana Merati, Pasqualina D'Ursi, Sara Zanardelli, Francesca Marino, Gessica Fontana, Giancarlo Castaman and Elena M. Faioni

      Version of Record online: 6 DEC 2006 | DOI: 10.1002/humu.20445

    3. Truncation of NHEJ1 in a patient with polymicrogyria (pages 356–364)

      Vincent Cantagrel, Anne-Marie Lossi, Steven Lisgo, Chantal Missirian, Ana Borges, Nicole Philip, Carla Fernandez, Carlos Cardoso, Dominique Figarella-Branger, Anne Moncla, Susan Lindsay, William B. Dobyns and Laurent Villard

      Version of Record online: 26 DEC 2006 | DOI: 10.1002/humu.20450

    4. Quantitated transcript haplotypes (QTH) of AGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits (pages 365–373)

      Mohammad R. Abdollahi, Rohan M. Lewis, Tom R. Gaunt, Debbie V.E. Cumming, Santiago Rodriguez, Matthew Rose-Zerilli, Andrew R. Collins, Holly E. Syddall, William M. Howell, Cyrus Cooper, Keith M. Godfrey, Iain T. Cameron and Ian N.M. Day

      Version of Record online: 8 JAN 2007 | DOI: 10.1002/humu.20454

    5. Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies (pages 374–386)

      Harald Bär, Bertrand Goudeau, Sarah Wälde, Monique Casteras-Simon, Norbert Mücke, Alexey Shatunov, Y. Paul Goldberg, Charles Clarke, Janice L. Holton, Bruno Eymard, Hugo A. Katus, Michel Fardeau, Lev Goldfarb, Patrick Vicart and Harald Herrmann

      Version of Record online: 12 JAN 2007 | DOI: 10.1002/humu.20459

    6. Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood (pages 387–395)

      Fransiska Malfait, Sofie Symoens, Julie De Backer, Trinh Hermanns-Lê, Natzi Sakalihasan, Charles M. Lapière, Paul Coucke and Anne De Paepe

      Version of Record online: 8 JAN 2007 | DOI: 10.1002/humu.20455

    7. Y-position cysteine substitution in type I collagen (α1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype (pages 396–405)

      Wayne A. Cabral, Elena Makareeva, Anne D. Letocha, Nina Scribanu, Andrzej Fertala, Andrzej Steplewski, Douglas R. Keene, Anton V. Persikov, Sergey Leikin and Joan C. Marini

      Version of Record online: 5 JAN 2007 | DOI: 10.1002/humu.20456

    8. Case–control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD) (pages 406–413)

      Sheila A. Fisher, Andrea Rivera, Lars G. Fritsche, Claudia N. Keilhauer, Peter Lichtner, Thomas Meitinger, Günther Rudolph and Bernhard H.F. Weber

      Version of Record online: 10 JAN 2007 | DOI: 10.1002/humu.20464

  4. Letters to the Editor

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Research Articles
    5. Letters to the Editor
    6. Mutations in Brief
    1. Getting rid of the PMS2 pseudogenes: mission impossible? (page 414)

      Renée C. Niessen, Jan H. Kleibeuker, Paul O.J. Jager, Rolf H. Sijmons and Robert M.W. Hofstra

      Version of Record online: 30 NOV 2006 | DOI: 10.1002/humu.20447

    2. Response to: getting rid of the PMS2 pseudogenes: mission impossible? (page 415)

      Mark Clendenning and Albert de la Chapelle

      Version of Record online: 4 DEC 2006 | DOI: 10.1002/humu.20446

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Databases
    4. Research Articles
    5. Letters to the Editor
    6. Mutations in Brief
    1. You have free access to this content
      Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia (page 416)

      Julie van der Zee, Isabelle Le Ber, Sebastian Maurer-Stroh, Sebastiaan Engelborghs, Ilse Gijselinck, Agnès Camuzat, Nathalie Brouwers, Rik Vandenberghe, Kristel Sleegers, Didier Hannequin, Bart Dermaut, Joost Schymkowitz, Dominique Campion, Patrick Santens, Jean-Jacques Martin, Lucette Lacomblez, Tim De Pooter, Karin Peeters, Maria Mattheijssens, Martine Vercelletto, Marleen Van den Broeck, Marc Cruts, Peter P. De Deyn, Frederic Rousseau, Alexis Brice and Christine Van Broeckhoven

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/humu.9484

    2. You have free access to this content
      Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype (page 416)

      Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich, Josseline Kaplan and Jean-Michel Rozet

      Version of Record online: 7 MAR 2007 | DOI: 10.1002/humu.9485

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