Human Mutation

Cover image for Human Mutation

September 2009

Volume 30, Issue 9

Pages v–v, 1245–1367, E831–E890

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
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    2. You have free access to this content
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      SNP-chips versus CNV patterns: Thinking outside the box (page v)

      Daniel W. Nebert

      Version of Record online: 26 AUG 2009 | DOI: 10.1002/humu.21104

  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. Molecular pathology of the fibroblast growth factor family (pages 1245–1255)

      Pavel Krejci, Jirina Prochazkova, Vitezslav Bryja, Alois Kozubik and William R. Wilcox

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21067

  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
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      The genetic basis of Brugada syndrome: A mutation update (pages 1256–1266)

      Paula L. Hedley, Poul Jørgensen, Sarah Schlamowitz, Johanna Moolman-Smook, Jørgen K. Kanters, Valerie A. Corfield and Michael Christiansen

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21066

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      Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1) (pages 1267–1277)

      Nigel G. Laing, Danielle E. Dye, Carina Wallgren-Pettersson, Gabriele Richard, Nicole Monnier, Suzanne Lillis, Thomas L. Winder, Hanns Lochmüller, Claudio Graziano, Stella Mitrani-Rosenbaum, Darren Twomey, John C. Sparrow, Alan H. Beggs and Kristen J. Nowak

      Version of Record online: 9 JUN 2009 | DOI: 10.1002/humu.21059

  4. Databases

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
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      A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy (pages 1278–1283)

      Paul A. van der Zwaag, Jan D.H. Jongbloed, Maarten P. van den Berg, Jasper J. van der Smagt, Roselie Jongbloed, Hennie Bikker, Robert M.W. Hofstra and J. Peter van Tintelen

      Version of Record online: 9 JUN 2009 | DOI: 10.1002/humu.21064

  5. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with incontinentia pigmenti (pages 1284–1291)

      Fusco Francesca, Paciolla Mariateresa, Pescatore Alessandra, Lioi Maria Brigida, Ayuso Carmen, Faravelli Francesca, Gentile Mattia, Zollino Marcella, D'Urso Michele, Miano Maria Giuseppina and Ursini Matilde Valeria

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21069

    2. Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene (pages 1292–1298)

      Paola Bianchi, Elisa Fermo, Cristina Vercellati, Carla Boschetti, Wilma Barcellini, Alessandra Iurlo, Anna Paola Marcello, Pier Giorgio Righetti and Alberto Zanella

      Version of Record online: 26 JUN 2009 | DOI: 10.1002/humu.21077

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. Measurement of admixture proportions and description of admixture structure in different U.S. populations (pages 1299–1309)

      Indrani Halder, Bao-Zhu Yang, Henry R. Kranzler, Murray B. Stein, Mark D. Shriver and Joel Gelernter

      Version of Record online: 12 MAY 2009 | DOI: 10.1002/humu.21045

    2. Functional FEN1 polymorphisms are associated with DNA damage levels and lung cancer risk (pages 1320–1328)

      Ming Yang, Huan Guo, Chen Wu, Yuefeng He, Dianke Yu, Li Zhou, Fang Wang, Jian Xu, Wen Tan, Guanghai Wang, Binghui Shen, Jing Yuan, Tangchun Wu and Dongxin Lin

      Version of Record online: 9 JUN 2009 | DOI: 10.1002/humu.21060

    3. Sequence contexts that determine the pathogenicity of base substitutions at position +3 of donor splice-sites (pages 1329–1339)

      Sandie Le Guédard-Méreuze, Christel Vaché, Nicolas Molinari, Julie Vaudaine, Mireille Claustres, Anne-Françoise Roux and Sylvie Tuffery-Giraud

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21070

    4. A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance (pages 1340–1347)

      Thomas Rio Frio, Terri L. McGee, Nicholas M. Wade, Christian Iseli, Jacques S. Beckmann, Eliot L. Berson and Carlo Rivolta

      Version of Record online: 23 JUN 2009 | DOI: 10.1002/humu.21071

    5. A survey of ABCA1 sequence variation confirms association with dementia (pages 1348–1354)

      Chandra A. Reynolds, Mun-Gwan Hong, Ulrika K. Eriksson, Kaj Blennow, Anna M. Bennet, Boo Johansson, Bo Malmberg, Stig Berg, Fredrik Wiklund, Margaret Gatz, Nancy L. Pedersen and Jonathan A. Prince

      Version of Record online: 26 JUN 2009 | DOI: 10.1002/humu.21076

  7. Methods

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes (pages 1355–1364)

      István Magyar, Dvora Colman, Eliane Arnold, Daniela Baumgartner, Armand Bottani, Siv Fokstuen, Marie-Claude Addor, Wolfgang Berger, Thierry Carrel, Beat Steinmann and Gábor Mátyás

      Version of Record online: 22 MAY 2009 | DOI: 10.1002/humu.21058

  8. Letter to the Editors

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. Extremely low risk of pheochromocytomas in complete VHL gene deletion cases (pages 1365–1366)

      Ramūnas Janavičius, Robertas Adomaitis, Feliksas Jankevičius and Laimonas Griškevičius

      Version of Record online: 20 JUL 2009 | DOI: 10.1002/humu.21050

    2. Response to: Extremely low risk of pheochromocytomas in complete VHL gene deletion cases (page 1367)

      Gerlind Franke, Gerd Scherer and Hartmut P.H. Neumann

      Version of Record online: 20 JUL 2009 | DOI: 10.1002/humu.21049

  9. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
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      Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H (pages E831–E844)

      Kristian Borg, Rolf Stucka, Matthew Locke, Eva Melin, Gabrielle Åhlberg, Ursula Klutzny, Maja von der Hagen, Angela Huebner, Hanns Lochmüller, Klaus Wrogemann, Lars-Eric Thornell, Derek J. Blake and Benedikt Schoser

      Version of Record online: 2 JUN 2009 | DOI: 10.1002/humu.21063

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      Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome (pages E845–E854)

      I. Balikova, A-E. Lehesjoki, T.J.L. de Ravel, B. Thienpont, K.E. Chandler, J. Clayton-Smith, A-L. Träskelin, J-P. Fryns and J.R. Vermeesch

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21065

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      A splice site mutation combined with a novel missense mutation of LHCGR cause male pseudohermaphroditism (pages E855–E865)

      Jie Qiao, Bing Han, Bing-Li Liu, Xia Chen, Ying Ru, Kai-Xiang Cheng, Fu-Guo Chen, Shuang-Xia Zhao, Jun Liang, Ying-Li Lu, Jin-Feng Tang, Yi-Xin Wu, Wan-Ling Wu, Jia-Lun Chen, Ming-Dao Chen and Huai-Dong Song

      Version of Record online: 23 JUN 2009 | DOI: 10.1002/humu.21072

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      Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls (pages E866–E879)

      Periklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, Alexandre Reymond, Samuel Deutsch, Roderic Guigó, France Denoeud, Jorg Drenkow, Colette Rossier, Francesca Ariani, Valeria Capra, Laurent Excoffier, Alessandra Renieri, Thomas R Gingeras and Stylianos E Antonarakis

      Version of Record online: 26 JUN 2009 | DOI: 10.1002/humu.21073

  10. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Methods
    9. Letter to the Editors
    10. Mutations in Brief
    11. Databases in Brief
    1. You have free access to this content
      The folliculin mutation database: An online database of mutations associated with Birt-Hogg-Dubé syndrome (pages E880–E890)

      Ming-Hui Wei, Patrick W. Blake, Julia Shevchenko and Jorge R. Toro

      Version of Record online: 26 JUN 2009 | DOI: 10.1002/humu.21075

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