Human Mutation

Cover image for Human Mutation

July 2008

Volume 29, Issue 7

Pages 891–982

  1. Mutation Updates

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    1. You have free access to this content
      Mutations in human monoamine-related neurotransmitter pathway genes (pages 891–902)

      Jan Haavik, Nenad Blau and Beat Thöny

      Version of Record online: 28 APR 2008 | DOI: 10.1002/humu.20700

    2. You have free access to this content
      Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype–phenotype correlation (pages 903–910)

      C. Crétolle, A. Pelet, D. Sanlaville, M. Zérah, J. Amiel, F. Jaubert, Y. Révillon, L. Baala, A. Munnich, C. Nihoul-Fékété and S. Lyonnet

      Version of Record online: 30 APR 2008 | DOI: 10.1002/humu.20718

      Corrected by:

      Erratum: Preparation of 1,4-bis(2-ethynyl-3-thienyl)benzene derivatives linked by oligo(ethyleneglycol) Chain

      Vol. 23, Issue 1, 122, Version of Record online: 17 JAN 2012

    3. You have free access to this content
      RPS19 mutations in patients with Diamond-Blackfan anemia (pages 911–920)

      Maria Francesca Campagnoli, Ugo Ramenghi, Marta Armiraglio, Paola Quarello, Emanuela Garelli, Adriana Carando, Federica Avondo, Elisa Pavesi, Sébastien Fribourg, Pierre-Emmanuel Gleizes, Fabrizio Loreni and Irma Dianzani

      Version of Record online: 15 APR 2008 | DOI: 10.1002/humu.20752

    4. You have free access to this content
  2. Rapid Communication

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    1. Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis–van Creveld syndrome with borderline intelligence (pages 931–938)

      Samia A. Temtamy, Mona S. Aglan, Maria Valencia, Guido Cocchi, Maria Pacheco, Adel M. Ashour, Khalda S. Amr, Sanaa M.H. Helmy, Mona A. El-Gammal, Michael Wright, Pablo Lapunzina, Judith A. Goodship and Victor L. Ruiz-Perez

      Version of Record online: 2 MAY 2008 | DOI: 10.1002/humu.20778

  3. Research Articles

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    1. PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype–phenotype associations (pages 939–947)

      Min Ki ten Kate, Mathieu Platteel, Rene Mulder, Peter Terpstra, Gerry A.F. Nicolaes, Pieter H. Reitsma, Gerrit van der Steege and Jan van der Meer

      Version of Record online: 24 APR 2008 | DOI: 10.1002/humu.20687

    2. MLPA screening in the BRCA1 gene from 1,506 German hereditary breast cancer cases: novel deletions, frequent involvement of exon 17, and occurrence in single early-onset cases (pages 948–958)

      Stefanie Engert, Barbara Wappenschmidt, Beate Betz, Karin Kast, Michael Kutsche, Heide Hellebrand, Timm O. Goecke, Marion Kiechle, Dieter Niederacher, Rita K. Schmutzler and Alfons Meindl

      Version of Record online: 22 APR 2008 | DOI: 10.1002/humu.20723

    3. Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations (pages 959–965)

      Nicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Enjolras, Maria Rosa Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josée Dubois, Eulalia Baselga, Francesco Brancati, Robin Carder, José Miguel Ceballos Quintal, Bruno Dallapiccola, Gayle Fischer, Ilona J. Frieden, Maria Garzon, John Harper, Jennifer Johnson-Patel, Christine Labrèze, Loreto Martorell, Harriet J. Paltiel, Annette Pohl, Julie Prendiville, Isabelle Quere, Dawn H. Siegel, Enza Maria Valente, Annet Van Hagen, Liselot Van Hest, Keith K. Vaux, Asuncion Vicente, Lisa Weibel, David Chitayat and Miikka Vikkula

      Version of Record online: 29 APR 2008 | DOI: 10.1002/humu.20746

    4. Clinical, cellular, and neuropathological consequences of AP1S2 mutations: further delineation of a recognizable X-linked mental retardation syndrome (pages 966–974)

      Guntram Borck, Anahi Mollà-Herman, Nathalie Boddaert, Férechté Encha-Razavi, Anne Philippe, Laurence Robel, Isabelle Desguerre, Francis Brunelle, Alexandre Benmerah, Arnold Munnich and Laurence Colleaux

      Version of Record online: 21 APR 2008 | DOI: 10.1002/humu.20531

  4. Methods

    1. Top of page
    2. Mutation Updates
    3. Rapid Communication
    4. Research Articles
    5. Methods
    1. Evaluation of in silico splice tools for decision-making in molecular diagnosis (pages 975–982)

      Claude Houdayer, Catherine Dehainault, Christophe Mattler, Dorothée Michaux, Virginie Caux-Moncoutier, Sabine Pagès-Berhouet, Catherine Dubois d'Enghien, Anthony Laugé, Laurent Castera, Marion Gauthier-Villars and Dominique Stoppa-Lyonnet

      Version of Record online: 30 APR 2008 | DOI: 10.1002/humu.20765

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