Human Mutation

Cover image for Human Mutation

April 2010

Volume 31, Issue 4

Pages V–V, 369–503, E1251–E1319

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
    2. You have free access to this content
  2. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
      Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update (pages 369–379)

      Anélia Horvath, Jérôme Bertherat, Lionel Groussin, Marine Guillaud-Bataille, Kitman Tsang, Laure Cazabat, Rosella Libé, Elaine Remmers, Fernande René-Corail, Fabio Rueda Faucz, Eric Clauser, Alain Calender, Xavier Bertagna, J. Aidan Carney and Constantine A. Stratakis

      Version of Record online: 26 MAR 2010 | DOI: 10.1002/humu.21178

    2. You have free access to this content
      An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study (pages 380–390)

      Marjan E. Steenweg, Cornelis Jakobs, Abdellatif Errami, Silvy J.M. van Dooren, Maria T. Adeva Bartolomé, Peter Aerssens, Persephone Augoustides-Savvapoulou, Ivo Baric, Matthias Baumann, Luisa Bonafé, Brigitte Chabrol, Joe T.R. Clarke, Peter Clayton, Mahmut Coker, Sarah Cooper, Tzipora Falik-Zaccai, Mark Gorman, Andreas Hahn, Alev Hasanoglu, Mary D. King, Hans B.C. de Klerk, Stanley H. Korman, Céline Lee, Allan Meldgaard Lund, Vlatka Mejaški-Bošnjak, Ignacio Pascual-Castroviejo, Aparna Raadhyaksha, Terje Rootwelt, Agathe Roubertie, Maria L. Ruiz-Falco, Emmanuel Scalais, Ulf Schimmel, Manuel Seijo-Martinez, Mohnish Suri, Jolanta Sykut-Cegielska, Friedrich K. Trefz, Graziella Uziel, Vassili Valayannopoulos, Christine Vianey-Saban, Stefan Vlaho, Julia Vodopiutz, Moacir Wajner, John Walter, Claudia Walter-Derbort, Zuhal Yapici, Dimitrios I. Zafeiriou, Marieke D. Spreeuwenberg, Jacopo Celli, Johan T. den Dunnen, Marjo S. van der Knaap and Gajja S. Salomons

      Version of Record online: 5 JAN 2010 | DOI: 10.1002/humu.21197

    3. You have free access to this content
      Review and update of mutations causing Waardenburg syndrome (pages 391–406)

      Véronique Pingault, Dorothée Ente, Florence Dastot-Le Moal, Michel Goossens, Sandrine Marlin and Nadège Bondurand

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21211

  3. Databases

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
      The Roche Cancer Genome Database (RCGDB) (pages 407–413)

      Jan Küntzer, Daniela Eggle, Hans-Peter Lenhof, Helmut Burtscher and Stefan Klostermann

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21207

  4. Informatics

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
  5. Research Articles

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci (pages 421–428)

      Sylvia Quemener, Jian-Min Chen, Nadia Chuzhanova, Caroline Bénech, Teresa Casals, Milan Macek Jr., Thierry Bienvenu, Trudi McDevitt, Philip M. Farrell, Ourida Loumi, Taieb Messaoud, Harry Cuppens, Garry R. Cutting, Peter D. Stenson, Karine Giteau, Marie-Pierre Audrézet, David N. Cooper and Claude Férec

      Version of Record online: 5 JAN 2010 | DOI: 10.1002/humu.21196

    2. Bardet-Biedl syndrome in Denmark—report of 13 novel sequence variations in six genes (pages 429–436)

      Tina Duelund Hjortshøj, Karen Grønskov, Alisdair R. Philp, Darryl Y. Nishimura, Ruth Riise, Val C. Sheffield, Thomas Rosenberg and Karen Brøndum-Nielsen

      Version of Record online: 29 JAN 2010 | DOI: 10.1002/humu.21204

    3. You have full text access to this OnlineOpen article
    4. ΔN133p53 expression levels in relation to haplotypes of the TP53 internal promoter region (pages 456–465)

      Ilaria Bellini, Letizia Pitto, Maria G. Marini, Loredana Porcu, Paolo Moi, Sonia Garritano, Laura Boldrini, Giuseppe Rainaldi, Gabriella Fontanini, Massimo Chiarugi, Roberto Barale, Federica Gemignani and Stefano Landi

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21214

    5. The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation (pages 466–476)

      Stefanie Löffek, Stefan Wöll, Jörg Höhfeld, Rudolf E. Leube, Cristina Has, Leena Bruckner-Tuderman and Thomas M. Magin

      Version of Record online: 11 FEB 2010 | DOI: 10.1002/humu.21222

  6. Methods

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. Quantifying the effect of sequence variation on regulatory interactions (pages 477–483)

      Thomas Manke, Matthias Heinig and Martin Vingron

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21209

    2. Genetic diagnosis of familial breast cancer using clonal sequencing (pages 484–491)

      Joanne E. Morgan, Ian M. Carr, Eamonn Sheridan, Carol E. Chu, Bruce Hayward, Nick Camm, Helen A. Lindsay, Chris J. Mattocks, Alexander F. Markham, David T. Bonthron and Graham R. Taylor

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21216

    3. Massively parallel sequencing of ataxia genes after array-based enrichment (pages 494–499)

      Alexander Hoischen, Christian Gilissen, Peer Arts, Nienke Wieskamp, Walter van der Vliet, Sascha Vermeer, Marloes Steehouwer, Petra de Vries, Rowdy Meijer, Jorge Seiqueros, Nine V.A.M. Knoers, Michael F. Buckley, Hans Scheffer and Joris A. Veltman

      Version of Record online: 11 FEB 2010 | DOI: 10.1002/humu.21221

  7. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
  8. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Informatics
    6. Research Articles
    7. Methods
    8. Meeting Reports
    9. Mutations in Brief
    1. You have free access to this content
      Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35) (pages E1251–E1260)

      Katherine J. Dick, Matthias Eckhardt, Coro Paisán-Ruiz, Aisha Alkhayat Alshehhi, Christos Proukakis, Naomi A. Sibtain, Helena Maier, Reza Sharifi, Michael A. Patton, Wafa Bashir, Roshan Koul, Sandy Raeburn, Volkmar Gieselmann, Henry Houlden and Andrew H. Crosby

      Version of Record online: 26 JAN 2010 | DOI: 10.1002/humu.21205

    2. You have free access to this content
      Enigmatic In Vivo iduronate-2-sulfatase (IDS) mutant transcript correction to wild-type in Hunter syndrome (pages E1261–E1285)

      Susanna Lualdi, Barbara Tappino, Marco Di Duca, Andrea Dardis, Christopher J. Anderson, Roberto Biassoni, Peter W. Thompson, Fabio Corsolini, Maja Di Rocco, Bruno Bembi, Stefano Regis, David N. Cooper and Mirella Filocamo

      Version of Record online: 26 JAN 2010 | DOI: 10.1002/humu.21208

    3. You have free access to this content
      High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis (pages E1286–E1293)

      Rolf H.A.M. Vossen, Martine van Duijn, Mohamed R. Daha, Johan T. den Dunnen and Anja Roos

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21213

    4. You have free access to this content
      Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency (pages E1294–E1303)

      Ondrej Luksan, Milan Jirsa, Jitka Eberova, Jakub Minks, Helena Treslova, Michaela Bouckova, Gabriela Storkanova, Hana Vlaskova, Martin Hrebicek and Lenka Dvorakova

      Version of Record online: 2 FEB 2010 | DOI: 10.1002/humu.21215

    5. You have free access to this content

SEARCH

SEARCH BY CITATION