Human Mutation

Cover image for Human Mutation

October 2006

Volume 27, Issue 10

Pages 977–1064

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. Mutations in RYR1 in malignant hyperthermia and central core disease (pages 977–989)

      Rachel Robinson, Danielle Carpenter, Marie-Anne Shaw, Jane Halsall and Philip Hopkins

      Version of Record online: 17 AUG 2006 | DOI: 10.1002/humu.20356

  2. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. Common variations in the IL4R gene affect splicing and influence natural expression of the soluble isoform (pages 990–998)

      Ann-Marie Bergin, Barbro Balder, Shivendra Kishore, Kajsa Swärd, Mirjana Hahn-Zoric, Olle Löwhagen, Lars Å. Hanson and Leonid Padyukov

      Version of Record online: 17 AUG 2006 | DOI: 10.1002/humu.20364

    2. Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II (pages 999–1006)

      A.L.E. Montalvo, B. Bembi, M. Donnarumma, M. Filocamo, G. Parenti, M. Rossi, L. Merlini, E. Buratti, P. De Filippi, A. Dardis, M. Stroppiano, G. Ciana and M.G. Pittis

      Version of Record online: 17 AUG 2006 | DOI: 10.1002/humu.20374

    3. KCNQ4: a gene for age-related hearing impairment? (pages 1007–1016)

      E. Van Eyken, L. Van Laer, E. Fransen, V. Topsakal, N. Lemkens, W. Laureys, N. Nelissen, A. Vandevelde, T. Wienker, P. Van De Heyning and G. Van Camp

      Version of Record online: 17 AUG 2006 | DOI: 10.1002/humu.20375

    4. Genetic evidence for ubiquitin-specific proteases USP24 and USP40 as candidate genes for late-onset Parkinson disease (pages 1017–1023)

      Yonghong Li, Steven Schrodi, Charles Rowland, Kristina Tacey, Joseph Catanese and Andrew Grupe

      Version of Record online: 17 AUG 2006 | DOI: 10.1002/humu.20382

    5. The 185delAG mutation (c.68_69delAG) in the BRCA1 gene triggers translation reinitiation at a downstream AUG codon (pages 1024–1029)

      Monique Buisson, Olga Anczuków, Almoutassem B. Zetoune, Mark D. Ware and Sylvie Mazoyer

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.20384

    6. Comprehensive NF1 screening on cultured Schwann cells from neurofibromas (pages 1030–1040)

      Ophélia Maertens, Hilde Brems, Jo Vandesompele, Thomas De Raedt, Ine Heyns, Thorsten Rosenbaum, Sofie De Schepper, Anne De Paepe, Geert Mortier, Sandra Janssens, Frank Speleman, Eric Legius and Ludwine Messiaen

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.20389

  3. Methods

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families (pages 1041–1046)

      Ian M. Carr, Kimberley J. Flintoff, Graham R. Taylor, Alexander F. Markham and David T. Bonthron

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.20383

    2. You have free access to this content
      Combined use of MLPA and nonfluorescent multiplex PCR analysis by high performance liquid chromatography for the detection of genomic rearrangements (pages 1047–1056)

      Laura De Lellis, Maria Cristina Curia, Teresa Catalano, Simona De Toffol, Chiara Bassi, Cristina Mareni, Lucio Bertario, Pasquale Battista, Renato Mariani-Costantini, Paolo Radice and Alessandro Cama

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.20386

  4. Letters to the Editor

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. Visualization of MAPT inversion on stretched chromosomes of tau-negative frontotemporal dementia patients (pages 1057–1059)

      Ilse Gijselinck, Veerle Bogaerts, Rosa Rademakers, Julie van der Zee, Christine Van Broeckhoven and Marc Cruts

      Version of Record online: 11 AUG 2006 | DOI: 10.1002/humu.20391

  5. Mutations in Brief

    1. Top of page
    2. Mutation Updates
    3. Research Articles
    4. Methods
    5. Letters to the Editor
    6. Mutations in Brief
    1. You have free access to this content
      Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: possible common origin for the prevalent p.R59H mutation among gypsies (page 1060)

      Raül Santamaria, Amparo Chabás, Maria Josep Coll, Clara Sa Miranda, Lluïsa Vilageliu and Daniel Grinberg

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9451

    2. You have free access to this content
      Somatic mutations of GUCY2F, EPHA3, and NTRK3 in human cancers (pages 1060–1061)

      Laura D. Wood, Eric S. Calhoun, Natalie Silliman, Janine Ptak, Steve Szabo, Steve M. Powell, Gregory J. Riggins, Tian-Li Wang, Hai Yan, Adi Gazdar, Scott E. Kern, Len Pennacchio, Kenneth W. Kinzler, Bert Vogelstein and Victor E. Velculescu

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9452

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      A two-tier approach to mutation detection in the COL4A5 gene for Alport syndrome (page 1061)

      Kathy King, Frances A. Flinter and Peter M. Green

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9453

    4. You have free access to this content
      ATM mutations in Italian families with ataxia telangiectasia include two distinct large genomic deletions (page 1061)

      Simona Cavalieri, Ada Funaro, Paola Porcedda, Valentina Turinetto, Nicola Migone, Richard A. Gatti and Alfredo Brusco

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9454

    5. You have free access to this content
      Identification of the microdeletion breakpoint in a GLRA1null allele of Turkish hyperekplexia patients (pages 1061–1062)

      Kristina Becker, Carsten Hohoff, Bernhard Schmitt, Hans-Jürgen Christen, Bernd A. Neubauer, Torsten Sandrieser and Cord-Michael Becker

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9455

    6. You have free access to this content
      PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands (page 1062)

      Sara Benito-Sanz, Darya Gorbenko Del Blanco, Miriam Aza-Carmona, Luis F. Magano, Pablo Lapunzina, Jesús Argente, Ángel Campos-Barros and Karen E. Heath

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9456

    7. You have free access to this content
      Unique substitution of CHEK2 and TP53 mutations implicated in primary prostate tumors and cancer cell lines (pages 1062–1063)

      Li Zheng, Fengwei Wang, Chiping Qian, Roxann M. Neumann, John C. Cheville, Donald J. Tindall and Wanguo Liu

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9457

    8. You have free access to this content
      Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques (page 1063)

      Cecile Dumanchin, Isabelle Tournier, Cosette Martin, Mira Didic, Serge Belliard, Bertrand Carlander, François Rouhart, Charles Duyckaerts, Jean-François Pellissier, Jean Baptiste Latouche, Didier Hannequin, Thierry Frebourg, Mario Tosi and Dominique Campion

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9458

    9. You have free access to this content
      The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy (pages 1063–1064)

      Michael Linnebank, Alexander Semmler, Wim J. Kleijer, Marianne L.T. van der Sterre, Jutta Gärtner, Klaus Fliessbach, Piotr Sokolowski, Wolfgang Köhler, Uwe Schlegel, Thomas Klockgether, Ronald J.A. Wanders, Stephan Schmidt, Ullrich Wüllner and Stephan Kemp

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9459

    10. You have free access to this content
      Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis (page 1064)

      Sophie Lejeune, François Guillemot, Jean-Pierre Triboulet, Stéphane Cattan, Christine Mouton, Nicole Porchet, Sylvie Manouvrier and Marie-Pierre Buisine

      Version of Record online: 28 AUG 2006 | DOI: 10.1002/humu.9460

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