Human Mutation

Cover image for Vol. 32 Issue 11

November 2011

Volume 32, Issue 11

Pages v–vi, 1197–1333, E2294–E2307

  1. In this issue

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
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    2. You have free access to this content
    3. You have free access to this content
  2. Special Articles

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. You have free access to this content
      Mutation nomenclature in practice: Findings and recommendations from the cystic fibrosis external quality assessment scheme (pages 1197–1203)

      Sarah Berwouts, Michael A. Morris, Emmanuelle Girodon, Martin Schwarz, Manfred Stuhrmann and Elisabeth Dequeker

      Version of Record online: 17 AUG 2011 | DOI: 10.1002/humu.21569

  3. Mutation Update

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history (pages 1204–1212)

      Cristina Has, Daniele Castiglia, Marcela del Rio, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno and Leena Bruckner-Tuderman

      Version of Record online: 20 SEP 2011 | DOI: 10.1002/humu.21576

  4. Databases

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. DYT6 dystonia: Review of the literature and creation of the UMD locus-specific database (LSDB) for mutations in the THAP1 gene (pages 1213–1224)

      Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

      Version of Record online: 15 SEP 2011 | DOI: 10.1002/humu.21564

  5. Rapid Communication

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy (pages 1225–1231)

      Louise Galmiche, Valérie Serre, Marine Beinat, Zahra Assouline, Anne-Sophie Lebre, Dominique Chretien, Patrick Nietschke, Vladimir Benes, Nathalie Boddaert, Daniel Sidi, Francis Brunelle, Marlène Rio, Arnold Munnich and Agnès Rötig

      Version of Record online: 14 SEP 2011 | DOI: 10.1002/humu.21562

  6. Rapid Communications

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. A mutation in SCARB2 is a modifier in gaucher disease (pages 1232–1238)

      Arash Velayati, John DePaolo, Nidhi Gupta, Jae H. Choi, Nima Moaven, Wendy Westbroek, Ozlem Goker-Alpan, Ehud Goldin, Barbara K. Stubblefield, Edwin Kolodny, Nahid Tayebi and Ellen Sidransky

      Version of Record online: 15 SEP 2011 | DOI: 10.1002/humu.21566

  7. Brief Reports

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2 (pages 1239–1242)

      Bertrand Isidor, Martine Le Merrer, G. Ulrich Exner, Olivier Pichon, Gaelle Thierry, Anne Guiochon-Mantel, Albert David, Valérie Cormier-Daire and Cédric Le Caignec

      Version of Record online: 12 SEP 2011 | DOI: 10.1002/humu.21563

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  8. Research Articles

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. Functional consequences and structural interpretation of mutations of human choline acetyltransferase (pages 1259–1267)

      Xin-Ming Shen, Thomas O. Crawford, Joan Brengman, Gyula Acsadi, Susan Iannaconne, Emin Karaca, Chaouky Khoury, Jean K. Mah, Shimon Edvardson, Zeljko Bajzer, David Rodgers and Andrew G. Engel

      Version of Record online: 23 SEP 2011 | DOI: 10.1002/humu.21560

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      FAS mRNA editing in human systemic lupus erythematosus (pages 1268–1277)

      Jianming Wu, Fenglong Xie, Kun Qian, Andrew W. Gibson, Jeffrey C. Edberg and Robert P. Kimberly

      Version of Record online: 11 AUG 2011 | DOI: 10.1002/humu.21565

    3. Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients (pages 1278–1289)

      Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Bruno Marino, Bruno Dallapiccola, Courtney Carpenter, Xin Zheng, Jacob Johnson, Jonathan Chung, Anne Marie Higgins, Nicole Philip, Tony J. Simon, Karlene Coleman, Damian Heine-Suner, Jordi Rosell, Wendy Kates, Marcella Devoto, Elizabeth Goldmuntz, Elaine Zackai, Tao Wang, Robert Shprintzen, Beverly Emanuel, Bernice Morrow and The International Chromosome 22q11.2 Consortium

      Version of Record online: 16 SEP 2011 | DOI: 10.1002/humu.21568

    4. High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in the Netherlands: Identification and characterization of eight novel mutations (pages 1290–1298)

      Adriaan G. Holleboom, Jan A. Kuivenhoven, Frank Peelman, Alinda W. Schimmel, Jorge Peter, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh, Erik S. Stroes and Mohammad Mahdi Motazacker

      Version of Record online: 23 SEP 2011 | DOI: 10.1002/humu.21578

    5. The polymorphism and haplotypes of PIN1 gene are associated with the risk of lung cancer in southern and eastern chinese populations (pages 1299–1308)

      Jiachun Lu, Lei Yang, Hongjun Zhao, Bin Liu, Yinyan Li, Hongxia Wu, Qingchu Li, Bohang Zeng, Yunnan Wang, Weidong Ji and Yifeng Zhou

      Version of Record online: 19 SEP 2011 | DOI: 10.1002/humu.21574

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      A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations (pages 1319–1325)

      John W. Yarham, Mazhor Al-Dosary, Emma L. Blakely, Charlotte L. Alston, Robert W. Taylor, Joanna L. Elson and Robert McFarland

      Version of Record online: 19 SEP 2011 | DOI: 10.1002/humu.21575

    7. A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema (pages 1326–1331)

      Amy L. Cilia La Corte, Angela M. Carter, Gillian I. Rice, Qing Ling Duan, Guy A Rouleau, Albert Adam, Peter J. Grant and Nigel M. Hooper

      Version of Record online: 12 SEP 2011 | DOI: 10.1002/humu.21579

  9. Letter to the Editors

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
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      GLI3 is rarely implicated in OFD syndromes with midline abnormalities (pages 1332–1333)

      M. Avila, N. Gigot, B. Aral, P. Callier, E. Gautier, J. Thevenon, L. Pasquier, E. Lopez, L. Gueneau, L. Duplomb, A. Goldenberg, C. Baumann, V. Cormier, S. Marlin, A. Masurel-Paulet, F. Huet, T. Attié-Bitach, L. Faivre and C. Thauvin-Robinet

      Version of Record online: 19 SEP 2011 | DOI: 10.1002/humu.21570

  10. Mutation In Brief

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Update
    5. Databases
    6. Rapid Communication
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Letter to the Editors
    11. Mutation In Brief
    1. You have free access to this content
      Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family (pages E2294–E2307)

      Filomena Pirozzi, Francesca Romana Di Raimo, Ginevra Zanni, Enrico Bertini, Pierre Billuart, Tommaso Tartaglione, Elisabetta Tabolacci, Andrea Brancaccio, Giovanni Neri and Pietro Chiurazzi

      Version of Record online: 14 SEP 2011 | DOI: 10.1002/humu.21567

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