Human Mutation

Cover image for Human Mutation

August 2008

Volume 29, Issue 8

Pages 983–1079, E68–E131

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. Sunlight ultraviolet irradiation and BRAF V600 mutagenesis in human melanoma (pages 983–991)

      Ahmad Besaratinia and Gerd P. Pfeifer

      Article first published online: 17 APR 2008 | DOI: 10.1002/humu.20802

  2. Mutation Updates

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. You have free access to this content
      The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders (pages 992–1006)

      Yoko Aoki, Tetsuya Niihori, Yoko Narumi, Shigeo Kure and Yoichi Matsubara

      Article first published online: 9 MAY 2008 | DOI: 10.1002/humu.20748

    2. You have free access to this content
      Mutations and polymorphisms of the gene of the major human blood protein, serum albumin (pages 1007–1016)

      Lorenzo Minchiotti, Monica Galliano, Ulrich Kragh-Hansen and Theodore Peters Jr.

      Article first published online: 5 MAY 2008 | DOI: 10.1002/humu.20754

  3. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome (pages 1017–1027)

      May Tassabehji, Zhi Ming Fang, Emma N. Hilton, Julie McGaughran, Zhongming Zhao, Charles E. de Bock, Emma Howard, Michael Malass, Dian Donnai, Ashish Diwan, Forbes D.C. Manson, Dédée Murrell and Raymond A. Clarke

      Article first published online: 18 APR 2008 | DOI: 10.1002/humu.20741

    2. PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations (pages 1028–1036)

      Marie-Noëlle Bonnet-Dupeyron, Patricia Combes, Paola Santander, Fabrice Cailloux, Odile Boespflug-Tanguy and Catherine Vaurs-Barrière

      Article first published online: 9 MAY 2008 | DOI: 10.1002/humu.20758

    3. A meta-analysis of nonsense mutations causing human genetic disease (pages 1037–1047)

      Matthew Mort, Dobril Ivanov, David N. Cooper and Nadia A. Chuzhanova

      Article first published online: 2 MAY 2008 | DOI: 10.1002/humu.20763

    4. Cystathionine β-synthase p.S466L mutation causes hyperhomocysteinemia in mice (pages 1048–1054)

      Sapna Gupta, Liqun Wang, Xiang Hua, Jakub Krijt, Viktor Kožich and Warren D. Kruger

      Article first published online: 2 MAY 2008 | DOI: 10.1002/humu.20773

  4. Methods

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. Genome-wide copy number analysis using copy number inferring tool (CNIT) and DNA pooling (pages 1055–1062)

      Chien-hsing Lin, Mei-chu Huang, Ling-hui Li, Jer-yuarn Wu, Yuan-tsong Chen and Cathy S.J. Fann

      Article first published online: 9 MAY 2008 | DOI: 10.1002/humu.20760

    2. Evaluation and use of a synthetic quality control material, included in the European external quality assessment scheme for cystic fibrosis (pages 1063–1070)

      Sarah Berwouts, Joan T. Gordon, Clark A. Rundell, David E. Barton and Elisabeth Dequeker

      Article first published online: 9 MAY 2008 | DOI: 10.1002/humu.20764

  5. Errata

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. You have free access to this content
      Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency (page 1079)

      Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny and Nenad Blau

      Article first published online: 20 JUN 2008 | DOI: 10.1002/humu.20821

  6. Databases in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. You have free access to this content
      Thailand mutation and variation database (ThaiMUT) (pages E68–E75)

      Uttapong Ruangrit, Metawee Srikummool, Anunchai Assawamakin, Chumpol Ngamphiw, Suparat Chuechote, Vilasinee Thaiprasarnsup, Gallissara Agavatpanitch, Ekawat Pasomsab, Pa-thai Yenchitsomanus, Surakameth Mahasirimongkol, Wasun Chantratita, Prasit Palittapongarnpim, Bunyarit Uyyanonvara, Chanin Limwongse and Sissades Tongsima

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20787

    2. You have free access to this content
      UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes (pages E76–E87)

      David Baux, Valérie Faugère, Lise Larrieu, Sandie Le Guédard-Méreuze, Dalil Hamroun, Christophe Béroud, Sue Malcolm, Mireille Claustres and Anne-Françoise Roux

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20780

  7. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Research Articles
    5. Methods
    6. Errata
    7. Databases in Brief
    8. Mutations in Brief
    1. You have free access to this content
      Red hair is the null phenotype of MC1R (pages E88–E94)

      Kimberley A. Beaumont, Sri N. Shekar, Anthony L. Cook, David L. Duffy and Richard A. Sturm

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20788

    2. You have free access to this content
      Mutational spectrum of FAM83H: the C-terminal portion is required for tooth enamel calcification (pages E95–E99)

      Sook-Kyung Lee, Jan C-C. Hu, John D. Bartlett, Kyung-Eun Lee, Brent P-J. Lin, James P. Simmer and Jung-Wook Kim

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20789

    3. You have free access to this content
      Does proximal myotonic myopathy show anticipation? (pages E100–E102)

      Bernd Kruse, Doris Wöhrle, Peter Steinbach and Andreas Gal

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20791

    4. You have free access to this content
      Germline and somatic NF1 gene mutations in plexiform neurofibromas (pages E103–E111)

      Meena Upadhyaya, Gill Spurlock, Bisma Monem, Nick Thomas, Reinhard E. Friedrich, Lan Kluwe and Victor Mautner

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20793

    5. You have free access to this content
      A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1) (pages E112–E122)

      María D. Herrero-Martín, Mercedes Pineda, Paz Briones, Ester López-Gallardo, Magdalena Carreras, Mercedes Benac, Miguel Angel Idoate, María A. Vilaseca, Rafael Artuch, Manuel J. López-Pérez, Eduardo Ruiz-Pesini and Julio Montoya

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20800

    6. You have free access to this content
      Differential functional effects of novel mutations of the transcription factor FOXL2 in BPES patients (pages E123–E131)

      Jeyabalan Nallathambi, Paul Laissue, Frank Batista, Bérénice A. Benayoun, Corinne Lesaffre, Lara Moumné, PJ Eswari Pandaranayaka, Kim Usha, Sankaran Krishnaswamy, Periasamy Sundaresan and Reiner A. Veitia

      Article first published online: 16 MAY 2008 | DOI: 10.1002/humu.20809

SEARCH

SEARCH BY CITATION