Human Mutation

Cover image for Human Mutation

December 2009

Volume 30, Issue 12

Pages v–v, 1591–1714, E1002–E1020

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Linkage exclusion mapping: rare diseases get SAMPLE'd (page v)

      Shawn K. Westaway

      Article first published online: 22 NOV 2009 | DOI: 10.1002/humu.21161

    2. You have free access to this content
      Toward understanding the molecular basis of ovarian cancer (page v)

      Logan C. Walker

      Article first published online: 22 NOV 2009 | DOI: 10.1002/humu.21162

  2. Review Articles

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Structural aspects of therapeutic enzymes to treat metabolic disorders (pages 1591–1610)

      Tse Siang Kang and Raymond C. Stevens

      Article first published online: 29 SEP 2009 | DOI: 10.1002/humu.21111

  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria (pages 1611–1619)

      Thierry Vilboux, Michael Kayser, Wendy Introne, Pim Suwannarat, Isa Bernardini, Roxanne Fischer, Kevin O'Brien, Robert Kleta, Marjan Huizing and William A. Gahl

      Article first published online: 4 SEP 2009 | DOI: 10.1002/humu.21120

    2. You have free access to this content
      Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb) (pages 1620–1627)

      Ivy Jennes, Elena Pedrini, Monia Zuntini, Marina Mordenti, Sahila Balkassmi, Carla G. Asteggiano, Brett Casey, Bert Bakker, Luca Sangiorgi and Wim Wuyts

      Article first published online: 6 OCT 2009 | DOI: 10.1002/humu.21123

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  4. Informatics

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Shadow autozygosity mapping by linkage exclusion (SAMPLE): a simple strategy to identify the genetic basis of lethal autosomal recessive disorders (pages 1642–1649)

      Ian M. Carr, Katarzyna Szymanska, Eamonn Sheridan, Alexander F. Markham, David T. Bonthron and Colin A. Johnson

      Article first published online: 14 AUG 2009 | DOI: 10.1002/humu.21105

  5. Research Articles

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency (pages 1650–1656)

      Anne Parle-McDermott, Faith Pangilinan, Kirsty K. O'Brien, James L. Mills, Alan M. Magee, James Troendle, Marie Sutton, John M. Scott, Peadar N. Kirke, Anne M. Molloy and Lawrence C. Brody

      Article first published online: 23 SEP 2009 | DOI: 10.1002/humu.21109

    2. Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (pages 1657–1666)

      Kevin M. Flanigan, Diane M. Dunn, Andrew von Niederhausern, Payam Soltanzadeh, Eduard Gappmaier, Michael T. Howard, Jacinda B. Sampson, Jerry R. Mendell, Cheryl Wall, Wendy M. King, Alan Pestronk, Julaine M. Florence, Anne M. Connolly, Katherine D. Mathews, Carrie M. Stephan, Karla S. Laubenthal, Brenda L. Wong, Paula J. Morehart, Amy Meyer, Richard S. Finkel, Carsten G. Bonnemann, Livija Medne, John W. Day, Joline C. Dalton, Marcia K. Margolis, Veronica J. Hinton and Robert B. Weiss

      Article first published online: 30 AUG 2009 | DOI: 10.1002/humu.21114

    3. Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts hedgehog signaling (pages 1667–1675)

      Maria Valencia, Pablo Lapunzina, Derek Lim, Raffaella Zannolli, Deborah Bartholdi, Bernd Wollnik, Othman Al-Ajlouni, Suhair S. Eid, Helen Cox, Sabrina Buoni, Joseph Hayek, Maria L. Martinez-Frias, Perez-Aytes Antonio, Samia Temtamy, Mona Aglan, Judith A. Goodship and Victor L. Ruiz-Perez

      Article first published online: 2 SEP 2009 | DOI: 10.1002/humu.21117

    4. Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria) (pages 1676–1682)

      B. Pérez, A. Rincón, A. Jorge-Finnigan, E. Richard, B. Merinero, M. Ugarte and L.R. Desviat

      Article first published online: 2 SEP 2009 | DOI: 10.1002/humu.21118

    5. The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase (pages 1683–1692)

      John J. Flanagan, Barbara Rossi, Katherine Tang, Xiaoyang Wu, Kirsten Mascioli, Francesca Donaudy, Maria Rosaria Tuzzi, Federica Fontana, Maria Vittoria Cubellis, Caterina Porto, Elfrida Benjamin, David J. Lockhart, Kenneth J. Valenzano, Generoso Andria, Giancarlo Parenti and Hung V. Do

      Article first published online: 4 SEP 2009 | DOI: 10.1002/humu.21121

    6. Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathways (pages 1693–1702)

      Karin Leunen, Olivier Gevaert, Anneleen Daemen, Vanessa Vanspauwen, Geneviève Michils, Bart De Moor, Philippe Moerman, Ignace Vergote and Eric Legius

      Article first published online: 2 OCT 2009 | DOI: 10.1002/humu.21135

  6. Methods

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. Deep sequencing to reveal new variants in pooled DNA samples (pages 1703–1712)

      Astrid A. Out, Ivonne J.H.M. van Minderhout, Jelle J. Goeman, Yavuz Ariyurek, Stephan Ossowski, Korbinian Schneeberger, Detlef Weigel, Michiel van Galen, Peter E.M. Taschner, Carli M.J. Tops, Martijn H. Breuning, Gert-Jan B. van Ommen, Johan T. den Dunnen, Peter Devilee and Frederik J. Hes

      Article first published online: 4 SEP 2009 | DOI: 10.1002/humu.21122

  7. Errata

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Identifying sequence variants in the human mitochondrial genome using high resolution melt (HRM) profiling (page 1713)

      Steven F. Dobrowolski, Alexandra T.M. Hendrickx, Bianca J.C. van den Bosch, Hubert J.M. Smeets, Jesse Gray, Trent Miller and Mitch Sears

      Article first published online: 22 NOV 2009 | DOI: 10.1002/humu.21144

    2. You have free access to this content
      BAK1 gene variation and abdominal aortic aneurysms (page 1714)

      Bruce Gottlieb, Lorraine E. Chalifour, Benjamin Mitmaker, Nathan Sheiner, Daniel Obrand, Cherrie Abraham, Melissa Meilleur, Tomoko Sugahara, Ghassan Bkaily and Morris Schweitzer

      Article first published online: 22 NOV 2009 | DOI: 10.1002/humu.21163

  8. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      Novel missense mutations in the FOXC2 gene alter transcriptional activity (pages E1002–E1009)

      M.A.M. van Steensel, R.J. Damstra, M. Heitink, R.S. Bladergroen, J. Veraart, Peter M. Steijlen and M. van Geel

      Article first published online: 16 SEP 2009 | DOI: 10.1002/humu.21127

  9. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Review Articles
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    1. You have free access to this content
      ssSNPTarget: genome-wide splice-site single nucleotide polymorphism database (pages E1010–E1020)

      Jin Ok Yang, Woo-Yeon Kim and Jong Bhak

      Article first published online: 16 SEP 2009 | DOI: 10.1002/humu.21128

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