Human Mutation

Cover image for Human Mutation

February 2010

Volume 31, Issue 2

Pages v–v, 113–217, E1126–E1174

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Point of care mutation detection (page v)

      Mats Nilsson

      Version of Record online: 26 JAN 2010 | DOI: 10.1002/humu.21198

  2. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome (pages 113–126)

      V. Laugel, C. Dalloz, M. Durand, F. Sauvanaud, U. Kristensen, M.C. Vincent, L. Pasquier, S. Odent, V. Cormier-Daire, B. Gener, E.S. Tobias, J.L. Tolmie, D. Martin-Coignard, V. Drouin-Garraud, D. Heron, H. Journel, E. Raffo, J. Vigneron, S. Lyonnet, V. Murday, D. Gubser-Mercati, B. Funalot, L. Brueton, J. Sanchez del Pozo, E. Muñoz, A.R. Gennery, M. Salih, M. Noruzinia, K. Prescott, L. Ramos, Z. Stark, K. Fieggen, B. Chabrol, P. Sarda, P. Edery, A. Bloch-Zupan, H. Fawcett, D. Pham, J.M. Egly, A.R. Lehmann, A. Sarasin and H. Dollfus

      Version of Record online: 5 NOV 2009 | DOI: 10.1002/humu.21154

  3. Informatics

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      SM2PH-db: an interactive system for the integrated analysis of phenotypic consequences of missense mutations in proteins involved in human genetic diseases (pages 127–135)

      Anne Friedrich, Nicolas Garnier, Nicolas Gagnière, Hoan Nguyen, Laurent-Philippe Albou, Valérie Biancalana, Emmanuel Bettler, Gilbert Deléage, Odile Lecompte, Jean Muller, Dino Moras, Jean-Louis Mandel, Thierry Toursel, Luc Moulinier and Olivier Poch

      Version of Record online: 17 NOV 2009 | DOI: 10.1002/humu.21155

  4. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping (pages 136–142)

      Nicolas Wein, Aurélie Avril, Marc Bartoli, Cyriaque Beley, Soraya Chaouch, Pascal Laforêt, Anthony Behin, Gillian Butler-Browne, Vincent Mouly, Martin Krahn, Luis Garcia and Nicolas Lévy

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21160

  5. Research Articles

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Detailed haplotype analysis at the TP53 locus in p.R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect (pages 143–150)

      Sonia Garritano, Federica Gemignani, Edenir Inez Palmero, Magali Olivier, Ghyslaine Martel-Planche, Florence Le Calvez-Kelm, Laurence Brugiéres, Fernando Regla Vargas, Ricardo Renzo Brentani, Patricia Ashton-Prolla, Stefano Landi, Sean V. Tavtigian, Pierre Hainaut and Maria Isabel W. Achatz

      Version of Record online: 29 OCT 2009 | DOI: 10.1002/humu.21151

    2. Alu-repeat–induced deletions within the NCF2 gene causing p67-phox–deficient chronic granulomatous disease (CGD) (pages 151–158)

      Marcus Gentsch, Aneta Kaczmarczyk, Karin van Leeuwen, Martin de Boer, Magdalena Kaus-Drobek, Marie-Claire Dagher, Petra Kaiser, Peter D. Arkwright, Manfred Gahr, Angela Rösen-Wolff, Matthias Bochtler, Elizabeth Secord, Pamela Britto-Williams, Gulam Mustafa Saifi, Anne Maddalena, Ghassan Dbaibo, Jacinta Bustamante, Jean-Laurent Casanova, Dirk Roos and Joachim Roesler

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21156

    3. MUTYH mutations associated with familial adenomatous polyposis: functional characterization by a mammalian cell-based assay (pages 159–166)

      Sara Molatore, Maria Teresa Russo, Vito G. D'Agostino, Flavia Barone, Yoshihiro Matsumoto, Alessandra M. Albertini, Anna Minoprio, Paolo Degan, Filomena Mazzei, Margherita Bignami and Guglielmina Nadia Ranzani

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21158

    4. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients (pages 167–175)

      Sikandar G. Khan, Koji Yamanegi, Zhi-Ming Zheng, Jennifer Boyle, Kyoko Imoto, Kyu-Seon Oh, Carl C. Baker, Engin Gozukara, Ahmet Metin and Kenneth H. Kraemer

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21166

    5. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion (pages 176–183)

      Michael W. Lawlor, Elizabeth T. DeChene, Emily Roumm, Amelia S. Geggel, Behzad Moghadaszadeh and Alan H. Beggs

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21157

    6. Assessing individual interethnic admixture and population substructure using a 48–insertion-deletion (INSEL) ancestry-informative marker (AIM) panel (pages 184–190)

      Ney P.C. Santos, Elzemar M. Ribeiro-Rodrigues, Ândrea K.C. Ribeiro-dos-Santos, Rui Pereira, Leonor Gusmão, António Amorim, Joáo F. Guerreiro, Marco A. Zago, Cecília Matte, Mara H. Hutz and Sidney E.B. Santos

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21159

    7. KCNC3: phenotype, mutations, channel biophysics—a study of 260 familial ataxia patients (pages 191–196)

      Karla P. Figueroa, Natali A. Minassian, Giovanni Stevanin, Michael Waters, Vartan Garibyan, Sylvie Forlani, Adam Strzelczyk, Katrin Bürk, Alexis Brice, Alexandra Dürr, Diane M. Papazian and Stefan M. Pulst

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21165

    8. The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination events (pages 197–207)

      Ulrich Pannicke, Manfred Hönig, Ilka Schulze, Jan Rohr, Gitta A. Heinz, Sylvia Braun, Ingrid Janz, Eva-Maria Rump, Markus G. Seidel, Susanne Matthes-Martin, Jan Soerensen, Johann Greil, Daniel K. Stachel, Bernd H. Belohradsky, Michael H. Albert, Ansgar Schulz, Stephan Ehl, Wilhelm Friedrich and Klaus Schwarz

      Version of Record online: 1 DEC 2009 | DOI: 10.1002/humu.21168

  6. Methods

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Exciton Primer-mediated SNP detection in SmartAmp2 reactions (pages 208–217)

      Alexander Lezhava, Takefumi Ishidao, Yuri Ishizu, Kana Naito, Takeshi Hanami, Atsuko Katayama, Yasushi Kogo, Takahiro Soma, Shuji Ikeda, Kayoko Murakami, Chihiro Nogawa, Masayoshi Itoh, Yasumasa Mitani, Matthias Harbers, Akimitsu Okamoto and Yoshihide Hayashizaki

      Version of Record online: 5 JAN 2010 | DOI: 10.1002/humu.21177

  7. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Informatics
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      A thorough assessment of benign genetic variability in GRN and MAPT (pages E1126–E1140)

      Rita J. Guerreiro, Nicole Washecka, John Hardy and Andrew Singleton

      Version of Record online: 17 DEC 2009 | DOI: 10.1002/humu.21152

    2. You have free access to this content
      Bayes analysis provides evidence of pathogenicity for the BRCA1 c.135-1G>T (IVS3-1) and BRCA2 c.7977-1G>C (IVS17-1) variants displaying in vitro splicing results of equivocal clinical significance (pages E1141–E1145)

      Amanda B. Spurdle, Sunil R. Lakhani, Leonard M. Da Silva, Rosemary L. Balleine, kConFab Investigators and David E. Goldgar

      Version of Record online: 17 DEC 2009 | DOI: 10.1002/humu.21181

    3. You have free access to this content
      NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in “Brain-Lung-Thyroid Syndrome” (pages E1146–E1162)

      Loïc Guillot, Aurore Carré, Gabor Szinnai, Mireille Castanet, Elodie Tron, Francis Jaubert, Isabelle Broutin, François Counil, Delphine Feldmann, Annick Clement, Michel Polak and Ralph Epaud

      Version of Record online: 17 DEC 2009 | DOI: 10.1002/humu.21183

    4. You have free access to this content
      Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6 (pages E1163–E1174)

      Anna-Katherina Kurze, Giovanna Galliciotti, Claudia Heine, Sara E. Mole, Arne Quitsch and Thomas Braulke

      Version of Record online: 17 DEC 2009 | DOI: 10.1002/humu.21184

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