Human Mutation

Cover image for Human Mutation

January 2010

Volume 31, Issue 1

Pages v–v, 1–111, E1021–E1125

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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      Identifying functional promoter SNPs using allelic imbalance (page v)

      William S. Oetting

      Version of Record online: 18 DEC 2009 | DOI: 10.1002/humu.21174

  2. Editorials

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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      Database overkill (page 1)

      Richard G.H. Cotton

      Version of Record online: 18 DEC 2009 | DOI: 10.1002/humu.21164

  3. Commentaries

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
  4. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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    2. You have free access to this content
      ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura (pages 11–19)

      Luca A. Lotta, Isabella Garagiola, Roberta Palla, Andrea Cairo and Flora Peyvandi

      Version of Record online: 21 OCT 2009 | DOI: 10.1002/humu.21143

  5. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels (pages 20–26)

      Celine Huber, Mélanie Fradin, Thomas Edouard, Martine Le Merrer, Yasemin Alanay, Daniela Bezerra Da Silva, Albert David, Hanan Hamamy, Liselotte van Hest, Allan M. Lund, Jacques Michaud, Christine Oley, Chirag Patel, Anna Rajab, David L. Skidmore, Helen Stewart, Maité Tauber, Arnold Munnich and Valerie Cormier-Daire

      Version of Record online: 29 OCT 2009 | DOI: 10.1002/humu.21150

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. Analysis of human CYP1A1 and CYP1A2 genes and their shared bidirectional promoter in eight world populations (pages 27–40)

      Lucia F. Jorge-Nebert, Zhengwen Jiang, Ranajit Chakraborty, Joanna Watson, Li Jin, Stephen T. McGarvey, Ranjan Deka and Daniel W. Nebert

      Version of Record online: 2 OCT 2009 | DOI: 10.1002/humu.21132

    2. Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD (pages 41–51)

      Christopher J. Ricketts, Julia R. Forman, Eleanor Rattenberry, Nicola Bradshaw, Fiona Lalloo, Louise Izatt, Trevor R. Cole, Ruth Armstrong, V.K. Ajith Kumar, Patrick J. Morrison, A. Brew Atkinson, Fiona Douglas, Steve G. Ball, Jackie Cook, Umasuthan Srirangalingam, Pip Killick, Gail Kirby, Simon Aylwin, Emma R. Woodward, D. Gareth R. Evans, Shirley V. Hodgson, Vicky Murday, Shern L. Chew, John M. Connell, Tom L. Blundell, Fiona MacDonald and Eamonn R. Maher

      Version of Record online: 2 OCT 2009 | DOI: 10.1002/humu.21136

    3. Identification of a DMBT1 polymorphism associated with increased breast cancer risk and decreased promoter activity (pages 60–66)

      Sandrine Tchatchou, Angela Riedel, Stefan Lyer, Julia Schmutzhard, Olga Strobel-Freidekind, Sabine Gronert-Sum, Carola Mietag, Mauro D'Amato, Bettina Schlehe, Kari Hemminki, Christian Sutter, Nina Ditsch, Anneke Blackburn, Linda Zhai Hill, D. Joseph Jerry, Peter Bugert, Bernhard H. F. Weber, Dieter Niederacher, Norbert Arnold, Raymonda Varon-Mateeva, Barbara Wappenschmidt, Rita K. Schmutzler, Christoph Engel, Alfons Meindl, Claus R. Bartram, Jan Mollenhauer and Barbara Burwinkel

      Version of Record online: 14 OCT 2009 | DOI: 10.1002/humu.21134

    4. Single nucleotide differences (SNDs) in the dbSNP database may lead to errors in genotyping and haplotyping studies (pages 67–73)

      Lucia Musumeci, Jonathan W. Arthur, Florence S. G. Cheung, Ashraful Hoque, Scott Lippman and Juergen K. V. Reichardt

      Version of Record online: 29 OCT 2009 | DOI: 10.1002/humu.21137

    5. Identification of novel truncated androgen receptor (AR) mutants including unreported pre-mRNA splicing variants in the 22Rv1 hormone-refractory prostate cancer (PCa) cell line (pages 74–80)

      Gemma Marcias, Eva Erdmann, Gaëlle Lapouge, Christelle Siebert, Philippe Barthélémy, Brigitte Duclos, Jean-Pierre Bergerat, Jocelyn Céraline and Jean-Emmanuel Kurtz

      Version of Record online: 14 OCT 2009 | DOI: 10.1002/humu.21138

    6. A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb (pages 81–89)

      Dagmar Wieczorek, Barbara Pawlik, Yun Li, Nurten A. Akarsu, Almuth Caliebe, Klaus J.W. May, Bernd Schweiger, Fernando R. Vargas, Sevim Balci, Gabriele Gillessen-Kaesbach and Bernd Wollnik

      Version of Record online: 21 OCT 2009 | DOI: 10.1002/humu.21142

    7. Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exon (pages 90–98)

      Luciana Musante, Stella-Amrei Kunde, Tina O. Sulistio, Ute Fischer, Astrid Grimme, Suzanna G.M. Frints, Charles E. Schwartz, Francisco Martínez, Corrado Romano, Hans-Hilger Ropers and Vera M. Kalscheuer

      Version of Record online: 21 OCT 2009 | DOI: 10.1002/humu.21146

    8. Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15 (pages 99–107)

      Chang Sun, Catherine Southard, David B. Witonsky, Olufunmilayo I. Olopade and Anna Di Rienzo

      Version of Record online: 21 OCT 2009 | DOI: 10.1002/humu.21145

  7. Letter to the Editors

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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    2. You have free access to this content
  8. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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      Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domains (pages E1021–E1042)

      Philippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, Corinne Baudoin, Aurélie Plancke, Nicolas Chassaing, Patrick Collignon, Valérie Drouin-Garraud, Alain Hovnanian, Dominique Martin-Coignard, Gwenaëlle Collod-Béroud, Christophe Béroud, Anne-Françoise Roux and Mireille Claustres

      Version of Record online: 2 OCT 2009 | DOI: 10.1002/humu.21131

  9. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
      A new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene (pages E1043–E1051)

      Derek H.K. Lim, Pauline K. Rehal, Michael S. Nahorski, Fiona Macdonald, Tijs Claessens, Michel Van Geel, Lieke Gijezen, Johan J.P. Gille, Sophie Giraud, Stephane Richard, Maurice van Steensel, Fred H. Menko and Eamonn R. Maher

      Version of Record online: 2 OCT 2009 | DOI: 10.1002/humu.21130

  10. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
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      Evaluation of SNPs in miR-146a, miR196a2 and miR-499 as low-penetrance alleles in German and Italian familial breast cancer cases (pages E1052–E1057)

      Irene Catucci, Rongxi Yang, Paolo Verderio, Sara Pizzamiglio, Ludwig Heesen, Kari Hemminki, Christian Sutter, Barbara Wappenschmidt, Michelle Dick, Norbert Arnold, Peter Bugert, Dieter Niederacher, Alfons Meindl, Rita K. Schmutzler, Claus C. Bartram, Filomena Ficarazzi, Laura Tizzoni, Daniela Zaffaroni, Siranoush Manoukian, Monica Barile, Marco A. Pierotti, Paolo Radice, Barbara Burwinkel and Paolo Peterlongo

      Version of Record online: 21 OCT 2009 | DOI: 10.1002/humu.21141

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      Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients (pages E1058–E1070)

      Merel S. Ebberink, Janet Kofster, Ronald J.A. Wanders and Hans R. Waterham

      Version of Record online: 29 OCT 2009 | DOI: 10.1002/humu.21153

    3. You have free access to this content
      Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations (pages E1071–E1080)

      Alessandra Pangrazio, Michael Pusch, Elena Caldana, Annalisa Frattini, Edoardo Lanino, Parag M Tamhankar, Shubha Phadke, Antonio Gonzalez Meneses Lopez, Paul Orchard, Ercan Mihci, Mario Abinun, Michael Wright, Kim Vettenranta, Ivo Bariæ, Daniela Melis, Ilhan Tezcan, Clarisse Baumann, Franco Locatelli, Marco Zecca, Edwin Horwitz, Lamia Sfaihi Ben Mansour, Mirjam Van Roij, Paolo Vezzoni, Anna Villa and Cristina Sobacchi

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21167

  11. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
      RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases (pages E1081–E1088)

      Thoralf Töpel, Dagmar Scheible, Friedrich Trefz and Ralf Hofestädt

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21169

  12. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
      Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1) (pages E1089–E1101)

      Jeremy J. O. Turner, Paul T. Christie, Simon H. S. Pearce, Peter D. Turnpenny and Rajesh V. Thakker

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21170

  13. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
      An updated and upgraded L1CAM mutation database (pages E1102–E1109)

      Yvonne J. Vos and Robert M.W. Hofstra

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21172

  14. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Commentaries
    5. Mutation Updates
    6. Rapid Communications
    7. Research Articles
    8. Letter to the Editors
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    12. Databases in Brief
    13. Mutations in Brief
    14. Databases in Brief
    15. Mutations in Brief
    1. You have free access to this content
      A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy (pages E1110–E1125)

      Myriam Vezain, Pascale Saugier-Veber, Elisa Goina, Renaud Touraine, Véronique Manel, Annick Toutain, Séverine Fehrenbach, Thierry Frébourg, Franco Pagani, Mario Tosi and Alexandra Martins

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21173

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