Human Mutation

Cover image for Human Mutation

January 2003

Volume 21, Issue 1

Pages 1–102

  1. Editorial

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      A higher-impact Human Mutation launches web-based submission/peer review and EarlyView rapid publication (page 1)

      Richard G. H. Cotton, Haig H. Kazazian Jr. and Mark H. Paalman

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10162

  2. Databases

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. eMelanoBase: An online locus-specific variant database for familial melanoma (pages 2–7)

      David C.Y. Fung, Elizabeth A. Holland, Therese M. Becker, Nicholas K. Hayward, Brigitte Bressac-de Paillerets, Melanoma Genetics Consortium and Graham J. Mann

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10149

  3. Rapid Communications

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. Two cases of misinterpretation of molecular results in incontinentia pigmenti, and a PCR-based method to discriminate NEMO/IKKγ dene deletion (pages 8–11)

      Tiziana Bardaro, Geppino Falco, Angela Sparago, Vincenzo Mercadante, Esther Gean Molins, Enrico Tarantino, Matilde Valeria Ursini and Michele D'Urso

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10150

  4. Research Articles

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
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    2. You have free access to this content
      Meta-analysis of indels causing human genetic disease: mechanisms of mutagenesis and the role of local DNA sequence complexity (pages 28–44)

      Nadia A. Chuzhanova, Emmanuel J. Anassis, Edward V. Ball, Michael Krawczak and David N. Cooper

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10146

    3. Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? (pages 45–52)

      Claudia Rubie, Peter Lichtner, Jutta Gärtner, Markus Siekiera, Graziella Uziel, Bernd Kohlmann, Alfried Kohlschütter, Thomas Meitinger, Gerald Stöber and Thomas Bettecken

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10145

    4. Further evidence for role of a promoter variant in the TNFRSF6 gene in Alzheimer disease (pages 53–60)

      Lars Feuk, Jonathan A. Prince, Kaj Blennow and Anthony J. Brookes

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10148

    5. Dynamics of CAG repeat loci revealed by the analysis of their variability (pages 61–70)

      Aida M. Andrés, Oscar Lao, Marta Soldevila, Francesc Calafell and Jaume Bertranpetit

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10151

    6. The mutational spectrum of human autosomal tetranucleotide microsatellites (pages 71–79)

      Andréia M. Leopoldino and Sérgio D. J. Pena

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10153

    7. ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects (pages 80–85)

      Catarina Campbell, Midori Mitui, Laura Eng, Gabriela Coutinho, Yvonne Thorstenson and Richard A. Gatti

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10156

  5. Methods

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
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  6. Letter to the Editor

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. MEFV sequence variants and amyloidosis: still an enigmatic question (pages 96–97)

      Ozden Altiok, Fabienne Séguret and Isabelle Touitou

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.10137

  7. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letter to the Editor
    8. Mutations in Brief
    1. You have free access to this content
      Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10 (page 98)

      Barbara Zoll, Lars Petersen, Katrin Lange, Peter Gabriel, Christiane Kiese-Himmel, Peter Rausch, Joachim Berger, Bastian Pasche, Moritz Meins, Manfred Gross, Roswitha Berger, Eberhard Kruse, Jürgen Kunz, Karl Sperling and Franco Laccone

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9098

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      BRCA1 germline mutations in Indian familial breast cancer (pages 98–99)

      Mani T. Valarmathi, Agarwal A., Suryanarayana S. V. Deo, Nootan K. Shukla and Satya N. Das

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9099

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      Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps (page 99)

      Iris Eisenberg, Gil Grabov-Nardini, Hagit Hochner, Mira Korner, Menachem Sadeh, Tulio Bertorini, Kate Bushby, Claudio Castellan, Kevin Felice, Jerry Mendell, Luciano Merlini, Christopher Shilling, Itshak Wirguin, Zohar Argov and Stella Mitrani-Rosenbaum

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9100

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      Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1 (page 100)

      Kathrin Huehne, Vladimir Benes, Christian Thiel, Cornelia Kraus, Wolfram Kress, Maria Hoeltzenbein, Christoph J. Ploner, Johannes Kotzian, André Reis, Hans Dieter Rott and Bernd W. Rautenstrauss

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9101

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      Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome (page 100)

      Albrecht Röpke, Annegret Kujat, Mechthild Gräber, Joannis Giannakudis and Ingo Hansmann

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9102

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      Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays (page 101)

      O. Ainoon, Y.H. Yu, A.L. Amir Muhriz, N.Y. Boo, S.K. Cheong and N.H. Hamidah

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9103

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      Splice mutations in the p53 gene: case report and review of the literature (pages 101–102)

      R. Holmila, C. Fouquet, J. Cadranel, G. Zalcman and T. Soussi

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9104

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      Erratum: Detection of C1 inhibitor (SERPING1/C1NH) mutations in exon 8 in patients with hereditary angioedema: evidence for 10 novel mutations (page 102)

      Alvaro Blanch, Olga Roche, Eduardo López-Granados, Gumersindo Fontán and Margarita López-Trascasa

      Article first published online: 20 DEC 2002 | DOI: 10.1002/humu.9105

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