Human Mutation

Cover image for Human Mutation

January 2006

Volume 27, Issue 1

Pages 1–120

  1. Review Article

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
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      Functional polymorphisms in dopamine and serotonin pathway genes (pages 1–13)

      Ursula M. D'Souza and Ian W. Craig

      Article first published online: 30 NOV 2005 | DOI: 10.1002/humu.20278

  2. Databases

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
    1. The UMD TP53 database and website: update and revisions (pages 14–20)

      Dalil Hamroun, Shunsuke Kato, Chikashi Ishioka, Mireille Claustres, Christophe Béroud and Thierry Soussi

      Article first published online: 8 NOV 2005 | DOI: 10.1002/humu.20269

  3. Research Articles

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
    1. Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype (pages 31–43)

      Lisa C. Worgan, Kirsten Niles, Jamie C. Tirone, Adam Hofmann, Andrei Verner, Alya'a Sammak, Terrence Kucic, Pierre Lepage and David S. Rosenblatt

      Article first published online: 9 NOV 2005 | DOI: 10.1002/humu.20258

    2. Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15 (pages 44–54)

      Kathy King, Mohammed F. Sheikh, Andrew P. Cuthbert, Sheila A. Fisher, Clive M. Onnie, Muddassar M. Mirza, Reenal C. Pattni, Jeremy Sanderson, Alastair Forbes, John Mansfield, Cathryn M. Lewis, Roland G. Roberts and Christopher G. Mathew

      Article first published online: 8 NOV 2005 | DOI: 10.1002/humu.20264

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      Preferential occurrence of 1–2 microindels (pages 55–61)

      Kathleen A. Hill, Kelly D. Gonzalez, William A. Scaringe, Ji-Cheng Wang and Steve S. Sommer

      Article first published online: 9 NOV 2005 | DOI: 10.1002/humu.20260

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      Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A (pages 62–68)

      Udo Zur Stadt, Karin Beutel, Susanne Kolberg, Reinhard Schneppenheim, Hartmut Kabisch, Gritta Janka and Hans Christian Hennies

      Article first published online: 8 NOV 2005 | DOI: 10.1002/humu.20274

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      Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes (pages 69–77)

      Grace M. Hobson, Zhong Huang, Karen Sperle, Erik Sistermans, Peter K. Rogan, James Y. Garbern, Edwin Kolodny, Sakkubai Naidu and Franca Cambi

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20276

  4. Research Article

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
    1. Fates of Cdh23/CDH23 with mutations affecting the cytoplasmic region (pages 88–97)

      Satoshi Yonezawa, Norio Yoshizaki, Takashi Kageyama, Takayuki Takahashi, Mamoru Sano, Yoshihito Tokita, Shigeo Masaki, Yutaka Inaguma, Atsuko Hanai, Nobuhiko Sakurai, Atsushi Yoshiki, Moriaki Kusakabe, Akihiko Moriyama and Atsuo Nakayama

      Article first published online: 9 NOV 2005 | DOI: 10.1002/humu.20266

  5. Research Articles

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
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      Germline mutations of the MSR1 gene in prostate cancer families from Germany (pages 98–102)

      Christiane Maier, Zorica Vesovic, Natascha Bachmann, Kathleen Herkommer, Anja K. Braun, Harald M. Surowy, Guenter Assum, Thomas Paiss and Walther Vogel

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20271

    2. Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease (pages 103–109)

      Sally Chappell, Leslie Daly, Kevin Morgan, Tamar Guetta Baranes, Josep Roca, Roberto Rabinovich, Ann Millar, Seamas C. Donnelly, Vera Keatings, William MacNee, Jan Stolk, Pieter Hiemstra, Massimo Miniati, Simonetta Monti, Clare M. O'Connor and Noor Kalsheker

      Article first published online: 8 NOV 2005 | DOI: 10.1002/humu.20275

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      Genetic polymorphisms in cell cycle regulatory genes MDM2 and TP53 are associated with susceptibility to lung cancer (pages 110–117)

      Xuemei Zhang, Xiaoping Miao, Yongli Guo, Wen Tan, Yifeng Zhou, Tong Sun, Yonggang Wang and Dongxin Lin

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20277

  6. Mutations in Brief

    1. Top of page
    2. Review Article
    3. Databases
    4. Research Articles
    5. Research Article
    6. Research Articles
    7. Mutations in Brief
    1. You have free access to this content
      Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus (page 118)

      Christina L. Liquori, Michel J. Berg, Ferdinando Squitieri, Monica Ottenbacher, Marielle Sorlie, Tracey P. Leedom, Milena Cannella, Vittorio Maglione, Louis Ptacek, Eric W. Johnson and Douglas A. Marchuk

      Article first published online: 2 DEC 2005 | DOI: 10.1002/humu.9389

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      HEY2 mutations in malformed hearts (page 118)

      Stella Marie Reamon-Buettner and Juergen Borlak

      Article first published online: 2 DEC 2005 | DOI: 10.1002/humu.9390

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      Characterization of two novel GBA mutations causing Gaucher disease that lead to aberrant RNA species by using functional splicing assays (page 119)

      Silvia Dominissini, Emanuele Buratti, Bruno Bembi, Marco Baralle and Maria Gabriela Pittis

      Article first published online: 2 DEC 2005 | DOI: 10.1002/humu.9391

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      Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption (page 119)

      Petra Sander, Marwan Alfalah, Markus Keiser, Ilma Korponay-Szabo, Judit B. Kovács, Tosso Leeb and Hassan Y. Naim

      Article first published online: 2 DEC 2005 | DOI: 10.1002/humu.9392

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      ALys amyloidosis caused by compound heterozygosity in Exon 2 (Thr70Asn) and Exon 4 (Trp112Arg) of the lysozyme gene (pages 119–120)

      Christoph Röcken, Konrad Becker, Marcus Fändrich, Volker Schroeckh, Barbara Stix, Thomas Rath, Thilo Kähne, Jutta Dierkes, Albert Roessner and Franz Werner Albert

      Article first published online: 2 DEC 2005 | DOI: 10.1002/humu.9393

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