Human Mutation

Cover image for Human Mutation

May 2002

Volume 19, Issue 5

Pages 465–574

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. Pyrosequencing™: An accurate detection platform for single nucleotide polymorphisms (pages 479–485)

      Hossein Fakhrai-Rad, Nader Pourmand and Mostafa Ronaghi

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10078

  2. Mutation Update

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      Mutations of RPGR in X-linked retinitis pigmentosa (RP3) (pages 486–500)

      Raf Vervoort and Alan F. Wright

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10057

  3. Databases

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. GeneTests-GeneClinics: Genetic testing information for a growing audience (pages 501–509)

      Roberta A. Pagon, Peter Tarczy-Hornoch, Patricia K. Baskin, Joseph E. Edwards, Maxine L. Covington, Miriam Espeseth, Christine Beahler, Thomas D. Bird, Bradley Popovich, Charli Nesbitt, Cynthia Dolan, Kathi Marymee, Nancy B. Hanson, Whitney Neufeld-Kaiser, Gina McCullough Grohs, Tracy Kicklighter, Cynthia Abair, Audin Malmin, Matthew Barclay and Rajasri Dharani Palepu

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10069

  4. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred (pages 510–517)

      Carla Oliveira, Maria Cristina Bordin, Nicola Grehan, David Huntsman, Gianpaolo Suriano, José Carlos Machado, Tuula Kiviluoto, Lauri Aaltonen, Charles E. Jackson, Raquel Seruca and Carlos Caldas

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10068

    2. Novel germline CDH1 mutations in hereditary diffuse gastric cancer families (pages 518–525)

      Bostjan Humar, Tumi Toro, Francesco Graziano, Hansjakob Müller, Zuzana Dobbie, Han Kwang-Yang, Charis Eng, Heather Hampel, Dale Gilbert, Ingrid Winship, Susan Parry, Robyn Ward, Mike Findlay, Alice Christian, Monica Tucker, Kathy Tucker, Tony Merriman and Parry Guilford

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10067

    3. Characterization of breakpoint sequences of five rearrangements in L1CAM and ABCD1 (ALD) genes (pages 526–535)

      Kerstin Kutsche, Bernadette Ressler, Heide-Gertrude Katzera, Ulrike Orth, Gabriele Gillessen-Kaesbach, Susanne Morlot, Eberhard Schwinger and Andreas Gal

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10072

    4. Sources of variability in genetic association studies: Insights from the analysis of hepatic lipase (LIPC) (pages 536–542)

      Ralph V. Shohet, Gloria L. Vega, Thomas P. Bersot, Robert W. Mahley, Scott M. Grundy, Rudy Guerra and Jonathan C. Cohen

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10079

  5. Methods

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      Miniaturized sealed-tube allele-specific PCR (pages 543–553)

      J. Ross Hawkins, Yuri Khripin, Ana M. Valdes and Thomas A. Weaver

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10060

    2. You have free access to this content
      Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes) (pages 554–559)

      Jacques B. de Kok, Erwin T.G. Wiegerinck, Belinda A.J. Giesendorf and Dorine W. Swinkels

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10076

    3. You have free access to this content
      Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy (pages 560–569)

      Stephan Waldmüller, Petra Freund, Simon Mauch, Roland Toder and Hans-Peter Vosberg

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10074

  6. Letter to the Editor

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. Crigler-Najjar syndrome type I in Tunisia may be associated with a founder effect related to the Q357R mutation within the UGT1 gene (pages 570–571)

      Jeanne Francoual, Armelle Rivierre, Chahnez Mokrani, Naïma Khrouf, Frédéric Gottrand, Anne Myara, Béatrice Le Bihan, Liliane Capel, Albert Lindenbaum and Philippe Labrune

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.10064

  7. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Update
    4. Databases
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss (page 572)

      Hossein Najmabadi, Robert A. Cucci, Solmaz Sahebjam, Nafiseh Kouchakian, Mohammad Farhadi, Kimia Kahrizi, Sanaz Arzhangi, Naiimeh Daneshmandan, Khalil Javan and Richard J.H. Smith

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.9033

    2. You have free access to this content
    3. You have free access to this content
      Four novel mutations of the PKD2 gene in czech families with autosomal dominant polycystic kidney disease (page 573)

      J. Reiterová, J. Štekrová, D.J.M. Peters, J. Kapras, M. Kohoutová, M. Merta and J. Židovská

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.9035

    4. You have free access to this content
      A HOXA13 allele with a missense mutation in the homeobox and a dinucleotide deletion in the promoter underlies Guttmacher syndrome (pages 573–574)

      Jeffrey W. Innis, Frances R. Goodman, Chiara Bacchelli, Thomas M. Williams, Douglas P. Mortlock, Praveen Sateesh, Peter J. Scambler, Wendy McKinnon and Alan E. Guttmacher

      Version of Record online: 10 APR 2002 | DOI: 10.1002/humu.9036

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