Human Mutation

Cover image for Human Mutation

October 2009

Volume 30, Issue 10

Pages v–v, 1369–1473, E891–E955

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      Epigenetics in facioscapulohumeral muscular dystrophy (FSHD) (page v)

      Mireille Claustres

      Version of Record online: 28 SEP 2009 | DOI: 10.1002/humu.21124

  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
  3. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies (pages 1378–1386)

      Sibel Ugur Iseri, Robert J. Osborne, Martin Farrall, Alexander William Wyatt, Ghazala Mirza, Gudrun Nürnberg, Christian Kluck, Helen Herbert, Angela Martin, Muhammad Sajid Hussain, J. Richard O. Collin, Mark Lathrop, Peter Nürnberg, Jiannis Ragoussis and Nicola K. Ragge

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21079

  4. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus (pages 1387–1396)

      Erik-Jan Kamsteeg, Monique Stoffels, Grazia Tamma, Irene B.M. Konings and Peter M.T. Deen

      Version of Record online: 16 JUN 2009 | DOI: 10.1002/humu.21068

    2. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A) (pages 1397–1405)

      Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Shu-Chuan Chiang, Robert Dobrovolny, Ai-Chu Huang, Hui-Ying Yeh, May-Chin Chao, Shio-Jean Lin, Teruo Kitagawa, Robert J. Desnick and Li-Wen Hsu

      Version of Record online: 26 JUN 2009 | DOI: 10.1002/humu.21074

    3. Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD) (pages 1406–1411)

      Hiroko Morisaki, Koichi Akutsu, Hitoshi Ogino, Norihiro Kondo, Itaru Yamanaka, Yoshiaki Tsutsumi, Tsuyoshi Yoshimuta, Toshiya Okajima, Hitoshi Matsuda, Kenji Minatoya, Hiroaki Sasaki, Hiroshi Tanaka, Hatsue Ishibashi-Ueda and Takayuki Morisaki

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21081

    4. The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations (pages 1412–1418)

      Anthony R. Dallosso, Siân Jones, Duncan Azzopardi, Valentina Moskvina, Nada Al-Tassan, Geraint T. Williams, Shelley Idziaszczyk, D. Rhodri Davies, Peter Milewski, Sally Williams, John Beynon, Julian R. Sampson and Jeremy P. Cheadle

      Version of Record online: 15 JUL 2009 | DOI: 10.1002/humu.21089

    5. Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis (pages 1419–1427)

      Marc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, Jorge A. Bevilacqua, Adrien Herledan, Vehary Sakanyan, Andoni Urtizberea, Luis Cartier, Norma B. Romero and Pascale Guicheney

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21086

    6. RFT1 deficiency in three novel CDG patients (pages 1428–1434)

      Wendy Vleugels, Micha A. Haeuptle, Bobby G. Ng, Jean-Claude Michalski, Roberta Battini, Carlo Dionisi-Vici, Mark D. Ludman, Jaak Jaeken, François Foulquier, Hudson H. Freeze, Gert Matthijs and Thierry Hennet

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21085

    7. Common epigenetic changes of D4Z4 in contraction-dependent and contraction-independent FSHD (pages 1449–1459)

      Jessica C. de Greef, Richard J.L.F. Lemmers, Baziel G.M. van Engelen, Sabrina Sacconi, Shannon L. Venance, Rune R. Frants, Rabi Tawil and Silvère M. van der Maarel

      Version of Record online: 14 JUL 2009 | DOI: 10.1002/humu.21091

  5. Methods

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarray (pages 1460–1468)

      Jing Tang, Yanqiang Li, Zhiqiang Pan, Yubai Guo, Jie Ma, Sheng Ning, Pengfeng Xiao and Zuhong Lu

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21080

  6. Letters to the Editors

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
  7. Errata

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      PORCN mutations in focal dermal hypoplasia: coping with lethality (pages 1472–1473)

      Dorothea Bornholdt, Frank Oeffner, Arne König, Rudolf Happle, Yasemin Alanay, Jeffrey Ascherman, Paul J. Benke, María del Carmen Boente, Ineke van der Burgt, Nicolas Chassaing, Ian Ellis, Christina Raissa I. Francisco, Patricia Della Giovanna, Ben Hamel, Cristina Has, Kaatje Heinelt, Andreas Janecke, Wolfgang Kastrup, Bart Loeys, Ingo Lohrisch, Carlo Marcelis, Yasmin Mehraein, Marie Eleanore O. Nicolas, Dana Pagliarini, Mauro Paradisi, Annalisa Patrizi, Maria Piccione, Hildegunde Piza-Katzer, Bettina Prager, Katrina Prescott, Juliane Strien, G. Eda Utine, Marc S. Zeller and Karl-Heinz Grzeschik

      Version of Record online: 28 SEP 2009 | DOI: 10.1002/humu.21125

  8. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation (pages E891–E903)

      Paul JM Savelkoul, Fabrizio De Mattia, Yuedan Li, Erik-Jan Kamsteeg, Irene BM Konings, Peter van der Sluijs and Peter MT Deen

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21082

  9. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      The SCN1A variant database: a novel research and diagnostic tool (pages E904–E920)

      Lieve RF Claes, Liesbet Deprez, Arvid Suls, Jonathan Baets, Katrien Smets, Tine Van Dyck, Tine Deconinck, Albena Jordanova and Peter De Jonghe

      Version of Record online: 7 JUL 2009 | DOI: 10.1002/humu.21083

  10. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Rapid Communications
    5. Research Articles
    6. Methods
    7. Letters to the Editors
    8. Errata
    9. Mutations in Brief
    10. Databases in Brief
    11. Mutations in Brief
    1. You have free access to this content
      The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis (pages E921–E935)

      Erich Roessler, Kenia B. El-Jaick, Christèle Dubourg, Jorge I. Vélez, Benjamin D. Solomon, Daniel E. Pineda-Álvarez, Felicitas Lacbawan, Nan Zhou, Maia Ouspenskaia, Aimée Paulussen, Hubert J. Smeets, Ute Hehr, Claude Bendavid, Sherri Bale, Sylvie Odent, Véronique David and Maximilian Muenke

      Version of Record online: 14 JUL 2009 | DOI: 10.1002/humu.21090

    2. You have free access to this content
      Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy (pages E936–E945)

      Martina Cesani, Alessia Capotondo, Tiziana Plati, Lucia Sergi Sergi, Francesca Fumagalli, Maria Grazia Roncarolo, Luigi Naldini, Giancarlo Comi, Maria Sessa and Alessandra Biffi

      Version of Record online: 15 JUL 2009 | DOI: 10.1002/humu.21093

    3. You have free access to this content
      EYA4, deleted in a case with middle interhemispheric variant of holoprosencephaly, interacts with SIX3 both physically and functionally (pages E946–E955)

      Yuichi Abe, Akira Oka, Masashi Mizuguchi, Takashi Igarashi, Shumpei Ishikawa, Hiroyuki Aburatani, Shigetoshi Yokoyama, Hiroshi Asahara, Kazuaki Nagao, Masao Yamada and Toshiyuki Miyashita

      Version of Record online: 15 JUL 2009 | DOI: 10.1002/humu.21094

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