Human Mutation

Cover image for Vol. 32 Issue 10

October 2011

Volume 32, Issue 10

Pages iv–iv, 1073–1196, E2259–E2293

  1. In this issue

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
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    2. You have free access to this content
  2. Editorial

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
    1. You have free access to this content
  3. Review

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
  4. Databases

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
    1. The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations (pages 1100–1107)

      Peter C. van den Akker, Marcel F. Jonkman, Trebor Rengaw, Leena Bruckner-Tuderman, Cristina Has, Johann W. Bauer, Alfred Klausegger, Giovanna Zambruno, Daniele Castiglia, Jemima E. Mellerio, John A. McGrath, Anthonie J. van Essen, Robert M.W. Hofstra and Morris A. Swertz

      Article first published online: 9 SEP 2011 | DOI: 10.1002/humu.21551

  5. Rapid Communication

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
  6. Brief Report

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
    1. Mutations in NOTCH2 in families with Hajdu-Cheney syndrome (pages 1114–1117)

      Jacek Majewski, Jeremy A. Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean-Pierre Fryns, Kym M. Boycott, Louis-Georges Ste-Marie, Fergus E. McKiernan, Ivo Marik, Hilde Van Esch, FORGE Canada Consortium, Jacques L. Michaud and Mark E. Samuels

      Article first published online: 9 SEP 2011 | DOI: 10.1002/humu.21546

  7. Research Articles

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
    1. REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction (pages 1118–1127)

      Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Didier Hannequin, Perrine Charles, Imed Feki, Jean-François Pinel, Anne-Marie Ouvrard-Hernandez, Stanislas Lyonnet, Elisabeth Ollagnon-Roman, Jacqueline Yaouanq, Annick Toutain, Christelle Dussert, Bertrand Fontaine, Eric Leguern, Didier Lacombe, Alexandra Durr, Rodrigue Rossignol, Alexis Brice and Giovanni Stevanin

      Article first published online: 9 SEP 2011 | DOI: 10.1002/humu.21542

    2. A cis-acting regulatory variation of the estrogen receptor α (ESR1) gene is associated with hepatitis B virus-related liver cirrhosis (pages 1128–1136)

      Zehui Yan, Wenting Tan, Baoyan Xu, Yunjie Dan, Wenli Zhao, Chunqing Deng, Wen Chen, Shun Tan, Qing Mao, Yuming Wang and Guohong Deng

      Article first published online: 9 SEP 2011 | DOI: 10.1002/humu.21544

    3. Single base-pair substitutions at the translation initiation sites of human genes as a cause of inherited disease (pages 1137–1143)

      Andreas Wolf, Amke Caliebe, Nick S.T. Thomas, Edward V. Ball, Matthew Mort, Peter D. Stenson, Michael Krawczak and David N. Cooper

      Article first published online: 8 SEP 2011 | DOI: 10.1002/humu.21547

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      Digenic inheritance of mutations in FOXC1 and PITX2 : Correlating transcription factor function and axenfeld-rieger disease severity (pages 1144–1152)

      Daniel Kelberman, Lily Islam, Susan E. Holder, Thomas S. Jacques, Patrick Calvas, Raoul C. Hennekam, Ken K. Nischal and Jane C. Sowden

      Article first published online: 8 SEP 2011 | DOI: 10.1002/humu.21550

    5. New insights into the pathogenesis of beckwith–wiedemann and silver–russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects (pages 1171–1182)

      Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El-Osta and Christine Gicquel

      Article first published online: 8 SEP 2011 | DOI: 10.1002/humu.21558

    6. Prediction of functional regulatory SNPs in monogenic and complex disease (pages 1183–1190)

      Yiqiang Zhao, Wyatt T. Clark, Matthew Mort, David N. Cooper, Predrag Radivojac and Sean D. Mooney

      Article first published online: 9 SEP 2011 | DOI: 10.1002/humu.21559

  8. Erratum

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
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      A Severe Form of Abetalipoproteinemia Caused by New Splicing Mutations of Microsomal Triglyceride Transfer Protein (pages 1191–1196)

      Véronique Pons, Corinne Rolland, Michel Nauze, Marie Danjoux, Gérald Gaibelet, Anne Durandy, Agnès Sassolas, Emile Lévy, François Tercé, Xavier Collet and Emmanuel Mas

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21594

      This article corrects:
  9. Database in Brief

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
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      DRUMS: A human disease related unique gene mutation search engine (pages E2259–E2265)

      Zuofeng Li, Xingnan Liu, Jingran Wen, Ye Xu, Xin Zhao, Xuan Li, Lei Liu and Xiaoyan Zhang

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21556

  10. Mutation In Brief

    1. Top of page
    2. In this issue
    3. Editorial
    4. Review
    5. Databases
    6. Rapid Communication
    7. Brief Report
    8. Research Articles
    9. Erratum
    10. Database in Brief
    11. Mutation In Brief
    1. You have free access to this content
    2. You have free access to this content
      Temperature and pharmacological rescue of a folding-defective, dominantl-negative KV7.2 mutation associated with neonatal seizures (pages E2283–E2293)

      Snezana Maljevic, Georgios Naros, Özlem Yalçin, Dragica Blazevic, Heidi Loeffler, Hande Çağlayan, Ortrud K. Steinlein and Holger Lerche

      Article first published online: 19 SEP 2011 | DOI: 10.1002/humu.21554

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