Human Mutation

Cover image for Human Mutation

May 2004

Volume 23, Issue 5

Pages 401–524

  1. Meeting Report

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
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  2. Reviews

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
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      MLPA and MAPH: New techniques for detection of gene deletions (pages 413–419)

      Loryn N. Sellner and Graham R. Taylor

      Version of Record online: 19 MAR 2004 | DOI: 10.1002/humu.20035

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      Proofreading genotyping assays and electrochemical detection of SNPs (pages 420–425)

      Garry C. King, Daniel A. Di Giusto, Wjatschesslaw A. Wlassoff, Susanne Giesebrecht, Eleanor Flening and Gregory D. Tyrelle

      Version of Record online: 19 MAR 2004 | DOI: 10.1002/humu.20034

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      Single-molecule analysis for molecular haplotyping (pages 442–446)

      Pui-Yan Kwok and Ming Xiao

      Version of Record online: 19 MAR 2004 | DOI: 10.1002/humu.20020

  3. Special Article

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. You have free access to this content
  4. Mutation Update

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD) (pages 453–463)

      Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossetti, Peter C. Harris, Stefan Somlo, Lisa Guay-Woodford, Gregory G. Germino, Markus Moser, Reinhard Büttner and Klaus Zerres

      Version of Record online: 25 MAR 2004 | DOI: 10.1002/humu.20029

  5. Databases

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. The Swiss-Prot variant page and the ModSNP database: A resource for sequence and structure information on human protein variants (pages 464–470)

      Yum L. Yip, Holger Scheib, Alexander V. Diemand, Alexandre Gattiker, Livia M. Famiglietti, Elisabeth Gasteiger and Amos Bairoch

      Version of Record online: 19 MAR 2004 | DOI: 10.1002/humu.20021

  6. Rapid Communications

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis (pages 471–476)

      Alfredo Ramírez, Julia Faupel, Ingrid Goebel, Anne Stiller, Susanne Beyer, Christina Stöckle, Carola Hasan, Udo Bode, Uwe Kornak and Christian Kubisch

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.20028

  7. Research Articles

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) (pages 487–495)

      Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik-Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner and Klaus Zerres

      Version of Record online: 1 APR 2004 | DOI: 10.1002/humu.20019

    2. Human vitamin K-dependent GAS6: Gene structure, allelic variation, and association with stroke (pages 506–512)

      Xavier Muñoz, Lauro Sumoy, Reposo Ramírez-Lorca, José Villar, Pablo García de Frutos and Núria Sala

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.20025

    3. Genetic characterization of myeloperoxidase deficiency in Italy (pages 496–505)

      Caterina Marchetti, Pierluigi Patriarca, G. Pietro Solero, Francisco E. Baralle and Maurizio Romano

      Version of Record online: 25 MAR 2004 | DOI: 10.1002/humu.20027

  8. Methods

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
    1. Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis (pages 513–521)

      Christina Vrettou, Joanne Traeger-Synodinos, Maria Tzetis, Giles Palmer, Christalena Sofocleous and Emmanuel Kanavakis

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.20022

  9. Mutations in Brief

    1. Top of page
    2. Meeting Report
    3. Reviews
    4. Special Article
    5. Mutation Update
    6. Databases
    7. Rapid Communications
    8. Research Articles
    9. Methods
    10. Mutations in Brief
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      Novel mutations in the TRIM37 gene in Mulibrey Nanism (page 522)

      Riikka H. Hämäläinen, Kristiina Avela, Julie A. Lambert, Jukka Kallijärvi, Wafaa Eyaid, Jürgen Gronau, Andrew P. Ignaszewski, Deborah McFadden, Giovanni Sorge, Marita Lipsanen-Nyman and Anna-Elina Lehesjoki

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9233

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      A novel splice-site mutation in the common gamma chain (γc) gene IL2RG results in X-linked severe combined immunodeficiency with an atypical NK+ phenotype (pages 522–523)

      Samantha L. Ginn, Christine Smyth, Melanie Wong, Bruce Bennetts, Peter B. Rowe and Ian E. Alexander

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9235

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      Molecular analysis of the ABCA4 gene in Turkish patients with Stargardt disease and retinitis pigmentosa (page 523)

      Rıza Köksal Özgü, Hakan Durukan, Ayşe Turan, Cihan Öner, Ay Öğüş and Debora B. Farber

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9236

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      First genotype characterization of Argentinean FAP patients: Identification of 14 novel APCmutations (pages 523–524)

      Marina De Rosa, Ricardo J. Dourisboure, Gemma Morelli, Alfredo Graziano, Alejandro Gutiérrez, Stephen Thibodeau, Kevin Halling, Karina Collia Avila, Francesca Duraturo, Ernesto J. Podesta, Paola Izzo and Angela R. Solano

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9237

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      Characterization of seven novel mutations in seven patients with GAMT deficiency (page 524)

      C.B. Item, S. Mercimek-Mahmutoglu, R. Battini, C. Edlinger-Horvat, C. Stromberger, O. Bodamer, A. Mühl, M.A. Vilaseca, H. Korall and S. Stöckler-Ipsiroglu

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9238

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      OCRLMutation analysis in Italian patients with Lowe syndrome (pages 524–525)

      Maria Addis, Mario Loi, Carmen Lepiani, Milena Cau and Maria Antonietta Melis

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9239

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      Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients (page 525)

      Ana Djarmati, Katja Hedrich, Marina Svetel, Nora Schäfer, Vladislava Juric, Slobodanka Vukosavic, Robert Hering, Olaf Riess, Stanka Romac, Christine Klein and Vladimir Kostic

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9240

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      Allelic heterogeneity of SMARD1 at the IGHMBP2 locus (pages 525–526)

      I. Maystadt, M. Zarhrate, P. Landrieu, O. Boespflug-Tanguy, S. Sukno, P. Collignon, J. Melki, C. Verellen-Dumoulin, A. Munnich and L. Viollet

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9241

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      Intronic mutations in the L1CAM gene may cause X-linked hydrocephalus by aberrant splicing (page 526)

      Christian A. Hübner, Barbara Utermann, Sigrid Tinschert, Gabriele Krüger, Bernadette Ressler, Cordula Steglich, Albert Schinzel and Andreas Gal

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9242

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      Loss-of-function mutations in cathepsin C in two families with Papillon-Lefèvre syndrome are associated with deficiency of serine proteinases in PMNs (page 524)

      Susanne F. de Haar, D. (Ineke) C. Jansen, Ton Schoenmaker, Hilde De Vree, Vincent Everts and Wouter Beertsen

      Version of Record online: 31 MAR 2004 | DOI: 10.1002/humu.9243

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