Human Mutation

Cover image for Human Mutation

Special Issue: Focus on High-Resolution Melting Technology

June 2009

Volume 30, Issue 6

Pages v–v, 857–1023

Issue edited by: Ian N.M. Day

  1. In this issue

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      Mutation-specific database and bioinformatics resource for DMD (page v)

      Kevin M. Flanigan

      Article first published online: 28 MAY 2009 | DOI: 10.1002/humu.21051

    2. You have free access to this content
      Fishing for domains of the CCM3 protein (page v)

      Peter Oefner

      Article first published online: 28 MAY 2009 | DOI: 10.1002/humu.21052

    3. You have free access to this content
      Mosaic mutation detection: finding the rare ones (page v)

      Mats Nilsson

      Article first published online: 28 MAY 2009 | DOI: 10.1002/humu.21053

  2. Commentaries

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
  3. Reviews

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      High-Resolution Melting Analysis (HRMA)—More than just sequence variant screening (pages 860–866)

      Rolf H.A.M. Vossen, Emmelien Aten, Anja Roos and Johan T. den Dunnen

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.21019

  4. Methods

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome (pages 867–875)

      Etienne Rouleau, Cédrick Lefol, Violaine Bourdon, Florence Coulet, Tetsuro Noguchi, Florent Soubrier, Ivan Bièche, Sylviane Olschwang, Hagay Sobol and Rosette Lidereau

      Article first published online: 17 FEB 2009 | DOI: 10.1002/humu.20947

    2. You have free access to this content
      Assessing high-resolution melt curve analysis for accurate detection of gene variants in complex DNA fragments (pages 876–883)

      Elizabeth A. Tindall, Desiree C. Petersen, Paula Woodbridge, Katharina Schipany and Vanessa M. Hayes

      Article first published online: 11 MAR 2009 | DOI: 10.1002/humu.20919

    3. You have free access to this content
      Description and validation of high-throughput simultaneous genotyping and mutation scanning by high-resolution melting curve analysis (pages 884–890)

      Tú Nguyen-Dumont, Florence Le Calvez-Kelm, Nathalie Forey, Sandrine McKay-Chopin, Sonia Garritano, Lydie Gioia-Patricola, Deepika De Silva, Ron Weigel, Suleeporn Sangrajrang, Fabienne Lesueur and Sean V. Tavtigian

      Article first published online: 4 APR 2009 | DOI: 10.1002/humu.20949

    4. You have free access to this content
      Identifying sequence variants in the human mitochondrial genome using high-resolution melt (HRM) profiling (pages 891–898)

      Steven F. Dobrowolski, Jesse Gray, Trent Miller and Mitch Sears

      Article first published online: 3 MAR 2009 | DOI: 10.1002/humu.21003

    5. You have free access to this content
      Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner™ (pages 899–909)

      Nienke van der Stoep, Chantal D.M. van Paridon, Tom Janssens, Petra Krenkova, Alexandra Stambergova, Milan Macek, Gert Matthijs and Egbert Bakker

      Article first published online: 3 MAR 2009 | DOI: 10.1002/humu.21004

  5. Mutation Updates

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene (pages 910–917)

      Emma L. Williams, Cecile Acquaviva, Antonio Amoroso, Francoise Chevalier, Marion Coulter-Mackie, Carla G. Monico, Daniela Giachino, Tricia Owen, Angela Robbiano, Eduardo Salido, Hans Waterham and Gill Rumsby

      Article first published online: 28 MAY 2009 | DOI: 10.1002/humu.21021

    2. You have free access to this content
      Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (HGSNAT) gene (pages 918–925)

      Matthew Feldhammer, Stéphanie Durand, Lenka Mrázová, Renée-Myriam Boucher, Rachel Laframboise, Robert Steinfeld, James E. Wraith, Helen Michelakakis, Otto P. van Diggelen, Martin Hřebíček, Stanislav Kmoch and Alexey V. Pshezhetsky

      Article first published online: 29 JAN 2009 | DOI: 10.1002/humu.20986

    3. You have free access to this content
      An update on mutations of the SLC39A4 gene in acrodermatitis enteropathica (pages 926–933)

      Sébastien Schmitt, Sébastien Küry, Mathilde Giraud, Brigitte Dréno, Monia Kharfi and Stéphane Bézieau

      Article first published online: 29 JAN 2009 | DOI: 10.1002/humu.20988

  6. Databases

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase (pages 934–945)

      Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel-Calemard, Marie-Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Blayau, Isabelle Creveaux, Anne Guiochon-Mantel, Bérengère de Martinville, Christophe Philippe, Nicole Monnier, Eric Bieth, Philippe Khau Van Kien, François-Olivier Desmet, Véronique Humbertclaude, Jean-Claude Kaplan, Jamel Chelly and Mireille Claustres

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20976

    2. You have free access to this content
      COLdb, a database linking genetic data to molecular function in fibrillar collagens (pages 946–951)

      Dale L. Bodian and Teri E. Klein

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20978

  7. Informatics

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity—application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2 (pages 952–959)

      Mélissa Yana Frédéric, Marine Lalande, Catherine Boileau, Dalil Hamroun, Mireille Claustres, Christophe Béroud and Gwenaëlle Collod-Béroud

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20970

    2. You have free access to this content
      IBDfinder and SNPsetter: Tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease (pages 960–967)

      Ian M. Carr, Eamonn Sheridan, Bruce E. Hayward, Alexander F. Markham and David T. Bonthron

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20974

    3. You have free access to this content
      The phenotype and genotype experiment object model (PaGE-OM): a robust data structure for information related to DNA variation (pages 968–977)

      Anthony J. Brookes, Heikki Lehvaslaiho, Juha Muilu, Yasumasa Shigemoto, Takashige Oroguchi, Takeshi Tomiki, Atsuhiro Mukaiyama, Akihiko Konagaya, Toshio Kojima, Ituro Inoue, Masako Kuroda, Hiroshi Mizushima, Gudmundur A. Thorisson, Debasis Dash, Haseena Rajeevan, Matthew W. Darlison, Mark Woon, David Fredman, Albert V. Smith, Martin Senger, Kimitoshi Naito and Hideaki Sugawara

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.20973

  8. Research Articles

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. Identification and molecular characterization of six novel mutations in the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTG) gene in patients with mucolipidosis III gamma (pages 978–984)

      Emanuele Persichetti, Nadia A. Chuzhanova, Andrea Dardis, Barbara Tappino, Sandra Pohl, Nick S.T. Thomas, Camillo Rosano, Chiara Balducci, Silvia Paciotti, Silvia Dominissini, Anna Lisa Montalvo, Michela Sibilio, Rossella Parini, Miriam Rigoldi, Maja Di Rocco, Giancarlo Parenti, Aldo Orlacchio, Bruno Bembi, David N. Cooper, Mirella Filocamo and Tommaso Beccari

      Article first published online: 18 DEC 2008 | DOI: 10.1002/humu.20959

    2. A novel mutation in CD40 and its functional characterization (pages 985–994)

      Chun-Jian Qi, Lu Zheng, Hong-Bing Ma, Min Fei, Ke-Qing Qian, Bai-Rong Shen, Chang-Ping Wu, Mauno Vihinen and Xue-Guang Zhang

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.20967

    3. Molecular mechanisms of classical Ehlers-Danlos syndrome (EDS) (pages 995–1002)

      Anna L. Mitchell, Ulrike Schwarze, Jessica F. Jennings and Peter H. Byers

      Article first published online: 20 FEB 2009 | DOI: 10.1002/humu.21000

    4. Functional analyses of human and zebrafish 18–amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein (pages 1003–1011)

      Katrin Voss, Sonja Stahl, Benjamin M. Hogan, Joerg Reinders, Elisa Schleider, Stefan Schulte-Merker and Ute Felbor

      Article first published online: 20 FEB 2009 | DOI: 10.1002/humu.20996

  9. Methods

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. Parallel sequencing used in detection of mosaic mutations: Comparison with four diagnostic DNA screening techniques (pages 1012–1020)

      Anna Rohlin, Josephine Wernersson, Yvonne Engwall, Leif Wiklund, Jan Björk and Margareta Nordling

      Article first published online: 20 JAN 2009 | DOI: 10.1002/humu.20980

  10. Letter to the Editor

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. Molecular neonatal screening for homocystinuria in the Qatari population (pages 1021–1022)

      Johannes Zschocke, Moustafa Kebbewar, Hongying Gan-Schreier, Christine Fischer, Junmin Fang-Hoffmann, Julia Wilrich, Ghassan Abdoh, Tawfeg Ben-Omran, Noora Shahbek, Martin Lindner, Hilal Al Rifai, Abdul Latif Al Khal and Georg F. Hoffmann

      Article first published online: 20 FEB 2009 | DOI: 10.1002/humu.20994

  11. Errata

    1. Top of page
    2. In this issue
    3. Commentaries
    4. Reviews
    5. Methods
    6. Mutation Updates
    7. Databases
    8. Informatics
    9. Research Articles
    10. Methods
    11. Letter to the Editor
    12. Errata
    1. You have free access to this content
      Novel mutations of the suppressor gene PTEN in colorectal carcinomas stratified by microsatellite instability- and TP53 mutation- status (page 1023)

      Stine A. Danielsen, Guro E. Lind, Merete Bjørnslett, Gunn I. Meling, Torleiv O. Rognum, Sverre Heim and Ragnhild A. Lothe

      Article first published online: 28 MAY 2009 | DOI: 10.1002/humu.21048

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