Human Mutation

Cover image for Human Mutation

May 2005

Volume 25, Issue 5

Pages 415–506

  1. Review

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
  2. Databases

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. eOPA1: An online database for OPA1 mutations (pages 423–428)

      Marc Ferré, Patrizia Amati-Bonneau, Yves Tourmen, Yves Malthièry and Pascal Reynier

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20161

    2. TCOF1 mutation database: Novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature (pages 429–434)

      Alessandra Splendore, Roberto D. Fanganiello, Cibele Masotti, Lucas S.C. Morganti and M. Rita Passos-Bueno

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20159

    3. KinMutBase: A registry of disease-causing mutations in protein kinase domains (pages 435–442)

      Csaba Ortutay, Jouni Väliaho, Kaj Stenberg and Mauno Vihinen

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20166

  3. Research Article

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency (pages 443–452)

      Esther M. Maier, Bernhard Liebl, Wulf Röschinger, Uta Nennstiel-Ratzel, Ralph Fingerhut, Bernhard Olgemöller, Ulrich Busch, Nils Krone, Rüdiger v. Kries and Adelbert A. Roscher

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20163

    2. Ancient origin of the CAG expansion causing Huntington disease in a Spanish population (pages 453–459)

      Javier García-Planells, Juan A. Burguera, Pilar Solís, José M. Millán, Damián Ginestar, Francesc Palau and Carmen Espinós

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20167

  4. Methods

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: A highly efficient and reliable carrier-screening test (pages 460–467)

      Yi-Ning Su, Chia-Cheng Hung, Hung Li, Chien-Nan Lee, Wen-Fang Cheng, Po-Nien Tsao, Ming-Cheng Chang, Chia-Li Yu, Wu-Shiun Hsieh, Win-Li Lin and Su-Ming Hsu

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20160

    2. A separation-free assay for the detection of mutations: Combination of homogeneous time-resolved fluorescence and minisequencing (pages 468–475)

      Evelyne Lopez-Crapez, Hervé Bazin, Julien Chevalier, Eric Trinquet, Jean Grenier and Gérard Mathis

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20162

    3. BAC-based PCR fragment microarray: High-resolution detection of chromosomal deletion and duplication breakpoints (pages 476–482)

      Hua Ren, Wendy Francis, Amber Boys, Anderly C. Chueh, Nick Wong, Phung La, Lee H. Wong, Jacinta Ryan, Howard R. Slater and K.H. Andy Choo

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20164

    4. Characterization of iduronate-2-sulfatase gene–pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based method (pages 491–497)

      Susanna Lualdi, Stefano Regis, Maja Di Rocco, Fabio Corsolini, Marina Stroppiano, Daniela Antuzzi and Mirella Filocamo

      Article first published online: 14 APR 2005 | DOI: 10.1002/humu.20165

  5. Letter to the Editor

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. Germline mutations of AXIN2 are not associated with nonsyndromic colorectal cancer (pages 498–500)

      Paolo Peterlongo, Louise R. Howe, Paolo Radice, Paola Sala, Young-Joon Hong, Seok-Il Hong, Nandita Mitra, Kenneth Offit and Nathan A. Ellis

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.20189

  6. Erratum

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
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      Conservation of the RBI gene in human and primates (page 501)

      Theru A. Sivakumaran, Peidong Shen, Dennis P. Wall, Bao H. Do, Kiran Kucheria and Peter J. Oefner

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.20186

  7. Mutations in Brief

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
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      Identification of novel mutations in classical galactosemia (page 502)

      Annet M. Bosch, Lodewijk IJlst, Wendy Oostheim, Joyce Mulders, Henk D. Bakker, Frits A. Wijburg, Ronald J.A. Wanders and Hans R. Waterham

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9330

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      Thirteen novel mutations in the NR0B1 (DAX1) gene as cause of adrenal hypoplasia congenita (page 502)

      Nils Krone, Felix Günther Riepe, Helmuth-Günther Dörr, Michel Morlot, Karl-Heinz Rudorff, Stenvert L.S. Drop, Johannes Weigel, Mikulas Pura, Alexander Kreze, Mauro Boronat, Filippo de Luca, Anatoly Tiulpakov, Carl-Joachim Partsch, Michael Peter and Wolfgang G. Sippell

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9331

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      Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary (page 503)

      Marie-Laure Sobrier, Irène Netchine, Claudine Heinrichs, Nathalie Thibaud, Marie-Pierre Vié-Luton, Guy Van Vliet and Serge Amselem

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9332

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      Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss (page 503)

      Abdelaziz Tlili, Ilhem Charfedine, Imed Lahmar, Zaineb Benzina, Ben Amor Mohamed, Dominique Weil, Nabil Idriss, Mohamed Drira, Saber Masmoudi and Hammadi Ayadi

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9333

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      Identification of novel GCK and HNF1A/TCF1 mutations and polymorphisms in German families with maturity-onset diabetes of the young (MODY) (pages 503–504)

      Dalia Toaima, Andrea Näke, Jutta Wendenburg, Kirsten Praedicow, Julia Rohayem, Kerstin Engel, Angela Galler, Manfred Gahr and Min Ae Lee-Kirsch

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9334

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  8. Mutations In Brief

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. You have free access to this content
      A new insight into PMM2 mutations in the French population (pages 504–505)

      Christiane Le Bizec, Sandrine Vuillaumier-Barrot, Anne Barnier, Thierry Dupré, Geneviève Durand and Nathalie Seta

      Article first published online: 20 APR 2005 | DOI: 10.1002/humu.9336

  9. Mutations in Brief

    1. Top of page
    2. Review
    3. Databases
    4. Research Article
    5. Methods
    6. Letter to the Editor
    7. Erratum
    8. Mutations in Brief
    9. Mutations In Brief
    10. Mutations in Brief
    1. You have free access to this content
      Nephrogenic diabetes insipidus caused by mutation of Tyr205: A key residue of V2 vasopressin receptor function (page 505)

      Katrin Sangkuhl, Holger Römpler, Wibke Busch, Beate Karges and Torsten Schöneberg

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9337

    2. You have free access to this content
      Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR) (page 505)

      Jinxiu Shi, Akane Shibayama, Qiang Liu, Vu Q. Nguyen, Jinong Feng, Mónica Santos, Teresa Temudo, Patricia Maciel and Steve S. Sommer

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9338

    3. You have free access to this content
      Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease (page 506)

      Melinda Erdõs, Éva Uzvölgyi, Zoltán Nemes, Olga Török, Éva Rákóczi, Nils Went-Sümegi, János Sümegi and László Maródi

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9339

    4. You have free access to this content
      Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations (page 506)

      Clarice Patrono, Valentina Scarano, Federica Cricchi, Mariarosa A. B. Melone, Maria Chiriaco, Alessandro Napolitano, Alessandro Malandrini, Giuseppe De Michele, Lucia Petrozzi, Carlo Giraldi, Lucio Santoro, Serena Servidei, Carlo Casali, Alessandro Filla and Filippo M. Santorelli

      Article first published online: 19 APR 2005 | DOI: 10.1002/humu.9340

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