Human Mutation

Cover image for Human Mutation

December 2007

Volume 28, Issue 12

Pages 1151–1245

  1. Special Articles

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

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

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

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Letters to the Editor
    9. Mutations in Brief
    1. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia (pages 1178–1182)

      Radek Cmejla, Jana Cmejlova, Helena Handrkova, Jiri Petrak and Dagmar Pospisilova

      Article first published online: 23 JUL 2007 | DOI: 10.1002/humu.20608

    2. A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype (pages 1183–1188)

      Anne Moncla, Chantal Missirian, Pierre Cacciagli, Eve Balzamo, Laurence Legeai-Mallet, Jean-Luc Jouve, Brigitte Chabrol, Martine Le Merrer, Ghislaine Plessis, Laurent Villard and Nicole Philip

      Article first published online: 3 AUG 2007 | DOI: 10.1002/humu.20611

  5. Research Articles

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Letters to the Editor
    9. Mutations in Brief
    1. MLPA screening reveals novel subtelomeric rearrangements in holoprosencephaly (pages 1189–1197)

      Claude Bendavid, Christèle Dubourg, Laurent Pasquier, Isabelle Gicquel, Simon Le Gallou, Stéphanie Mottier, Marie-Renée Durou, Catherine Henry, Sylvie Odent and Véronique David

      Article first published online: 7 AUG 2007 | DOI: 10.1002/humu.20594

    2. Double complex mutations involving F8 and FUNDC2 caused by distinct break-induced replication (pages 1198–1206)

      Campbell R. Sheen, Ursula R. Jewell, Christine M. Morris, Stephen O. Brennan, Claude Férec, Peter M. George, Mark P. Smith and Jian-Min Chen

      Article first published online: 7 AUG 2007 | DOI: 10.1002/humu.20591

    3. Contribution of BRCA1 and BRCA2 mutations to inherited ovarian cancer (pages 1207–1215)

      Susan J. Ramus, Patricia A. Harrington, Carole Pye, Richard A. DiCioccio, Mark J. Cox, Kim Garlinghouse-Jones, Ingrid Oakley-Girvan, Ian J. Jacobs, Richard M. Hardy, Alice S. Whittemore, Bruce A.J. Ponder, M. Steven Piver, Paul D.P. Pharoah and Simon A. Gayther

      Article first published online: 9 AUG 2007 | DOI: 10.1002/humu.20599

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      Closely linked cis-acting modifier of expansion of the CGG repeat in high risk FMR1 haplotypes (pages 1216–1224)

      S. Ennis, A. Murray, G. Brightwell, N.E. Morton and P.A. Jacobs

      Article first published online: 2 AUG 2007 | DOI: 10.1002/humu.20600

  6. Methods

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Letters to the Editor
    9. Mutations in Brief
    1. Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrio (pages 1225–1235)

      Jason C. Ting, Elisha D.O. Roberson, Nathaniel D. Miller, Alana Lysholm-Bernacchi, Dietrich A. Stephan, George T. Capone, Ingo Ruczinski, George H. Thomas and Jonathan Pevsner

      Article first published online: 27 JUL 2007 | DOI: 10.1002/humu.20583

    2. Rapid identification of disease-causing mutations using copy number analysis within linkage intervals (pages 1236–1240)

      Fatih Bayrakli, Kaya Bilguvar, Christopher E. Mason, Michael L. DiLuna, Yasar Bayri, Levent Gungor, Murat Terzi, Shrikant M. Mane, Richard P. Lifton, Matthew W. State and Murat Gunel

      Article first published online: 3 AUG 2007 | DOI: 10.1002/humu.20592

  7. Letters to the Editor

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

    1. Top of page
    2. Special Articles
    3. Review Articles
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Methods
    8. Letters to the Editor
    9. Mutations in Brief
    1. You have free access to this content
      Pathogenic validation of unique germline intronic variants of RB1 in retinoblastoma patients using minigenes (page 1245)

      Angelo Gámez-Pozo, Itziar Palacios, Milica Kontic, Ibis Menéndez, Isabel Camino, Purificación García-Miguel, José Abelairas, Ángel Pestaña and Javier Alonso

      Article first published online: 13 NOV 2007 | DOI: 10.1002/humu.9512

    2. You have free access to this content
      Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II (page 1245)

      Sylvie Gerber, Sylvain Hanein, Isabelle Perrault, Nathalie Delphin, Nisrine Aboussair, Corinne Leowski, Jean-Louis Dufier, Olivier Roche, Arnold Munnich, Josseline Kaplan and Jean-Michel Rozet

      Article first published online: 13 NOV 2007 | DOI: 10.1002/humu.9513

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