Human Mutation

Cover image for Vol. 31 Issue 10

October 2010

Volume 31, Issue 10

Pages v–v, 1089–1178, E1687–E1771

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      LSDBs: Promise and Challenges (page v)

      Giovanni Romeo

      Version of Record online: 28 SEP 2010 | DOI: 10.1002/humu.21369

    2. You have full text access to this OnlineOpen article
  2. Editorials

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have free access to this content
      On genomic DNA paradigms, research publications, and scholarly inquiry (page 1089)

      Mark H. Paalman, Richard G.H. Cotton and Garry R. Cutting

      Version of Record online: 28 SEP 2010 | DOI: 10.1002/humu.21353

  3. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have free access to this content
    2. You have free access to this content
      CEP290, a gene with many faces: mutation overview and presentation of CEP290base (pages 1097–1108)

      Frauke Coppieters, Steve Lefever, Bart P. Leroy and Elfride De Baere

      Version of Record online: 5 AUG 2010 | DOI: 10.1002/humu.21337

  4. Databases

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have free access to this content
      Locus-specific database domain and data content analysis: evolution and content maturation toward clinical use (pages 1109–1116)

      Christina Mitropoulou, Adam J. Webb, Konstantinos Mitropoulos, Anthony J. Brookes and George P. Patrinos

      Version of Record online: 7 SEP 2010 | DOI: 10.1002/humu.21332

  5. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias (pages 1117–1124)

      Claudia Cagnoli, Giovanni Stevanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribai, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr and Alfredo Brusco

      Version of Record online: 7 SEP 2010 | DOI: 10.1002/humu.21342

    2. Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2 (pages 1125–1133)

      Emmelien Aten, Lisa C. Brasz, Dorothea Bornholdt, Ingeborg B. Hooijkaas, Mary E. Porteous, Virginia P. Sybert, Maarten H. Vermeer, Rolf H.A.M. Vossen, Michiel J.R. van der Wielen, Egbert Bakker, Martijn H. Breuning, Karl-Heinz Grzeschik, Jan C. Oosterwijk and Johan T. den Dunnen

      Version of Record online: 7 SEP 2010 | DOI: 10.1002/humu.21335

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy (pages 1134–1141)

      Sophie Thomas, Ferechté Encha-Razavi, Louise Devisme, Heather Etchevers, Bettina Bessieres-Grattagliano, Géraldine Goudefroye, Nadia Elkhartoufi, Emilie Pateau, Amale Ichkou, Maryse Bonnière, Pascale Marcorelle, Philippe Parent, Sylvie Manouvrier, Muriel Holder, Annie Laquerrière, Laurence Loeuillet, Joelle Roume, Jelena Martinovic, Soumaya Mougou-Zerelli, Marie Gonzales, Vincent Meyer, Marc Wessner, Christine Bole Feysot, Patrick Nitschke, Nadia Leticee, Arnold Munnich, Stanislas Lyonnet, Peter Wookey, Gabor Gyapay, Bernard Foliguet, Michel Vekemans and Tania Attié-Bitach

      Version of Record online: 7 SEP 2010 | DOI: 10.1002/humu.21329

    2. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations (pages 1142–1154)

      Jennifer J. Johnston, Julie C. Sapp, Joyce T. Turner, David Amor, Salim Aftimos, Kyrieckos A. Aleck, Maureen Bocian, Joann N. Bodurtha, Gerald F. Cox, Cynthia J. Curry, Ruth Day, Dian Donnai, Michael Field, Ikuma Fujiwara, Michael Gabbett, Moran Gal, John M. Graham, Peter Hedera, Raoul C.M. Hennekam, Joseph H. Hersh, Robert J. Hopkin, Hülya Kayserili, Alexa M.J. Kidd, Virginia Kimonis, Angela E. Lin, Sally Ann Lynch, Melissa Maisenbacher, Sahar Mansour, Julie McGaughran, Lakshmi Mehta, Helen Murphy, Margarita Raygada, Nathaniel H. Robin, Alan F. Rope, Kenneth N. Rosenbaum, G. Bradley Schaefer, Amy Shealy, Wendy Smith, Maria Soller, Annmarie Sommer, Heather J. Stalker, Bernhard Steiner, Mark J. Stephan, David Tilstra, Susan Tomkins, Pamela Trapane, Anne Chun-Hui Tsai, Margot I. Van Allen, Pradeep C. Vasudevan, Bernhard Zabel, Janice Zunich, Graeme C.M. Black and Leslie G. Biesecker

      Version of Record online: 29 JUL 2010 | DOI: 10.1002/humu.21328

    3. Mutations in GDF5 presenting as semidominant brachydactyly A1 (pages 1155–1162)

      Ashley M. Byrnes, Lemuel Racacho, Sarah M. Nikkel, Fengxia Xiao, Heather MacDonald, T. Michael Underhill and Dennis E. Bulman

      Version of Record online: 7 SEP 2010 | DOI: 10.1002/humu.21338

    4. Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions (pages 1163–1173)

      Angelika C. Roehl, Julia Vogt, Tanja Mussotter, Antje N. Zickler, Helene Spöti, Josef Högel, Nadia A. Chuzhanova, Katharina Wimmer, Lan Kluwe, Victor-Felix Mautner, David N. Cooper and Hildegard Kehrer-Sawatzki

      Version of Record online: 28 SEP 2010 | DOI: 10.1002/humu.21340

  7. Letters to the Editors

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have free access to this content
      BAK1 gene variation and abdominal aortic aneurysms—results may have been prematurely overrated (pages 1174–1176)

      Sébastien Küry, Fabrice Airaud, Philippe Piloquet and Stéphane Bézieau

      Version of Record online: 28 SEP 2010 | DOI: 10.1002/humu.21324

    2. You have free access to this content
  8. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Editorials
    4. Mutation Updates
    5. Databases
    6. Rapid Communications
    7. Research Articles
    8. Letters to the Editors
    9. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex (pages E1687–E1698)

      Ken Natsuga, Wataru Nishie, Satoru Shinkuma, Ken Arita, Hideki Nakamura, Makiko Ohyama, Hitoshi Osaka, Takeshi Kambara, Yoshiaki Hirako and Hiroshi Shimizu

      Version of Record online: 27 JUL 2010 | DOI: 10.1002/humu.21330

    2. You have full text access to this OnlineOpen article
    3. You have full text access to this OnlineOpen article
      Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes (pages E1709–E1766)

      Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy and Elfride De Baere

      Version of Record online: 3 AUG 2010 | DOI: 10.1002/humu.21336

    4. You have full text access to this OnlineOpen article
      A rare novel deletion of the tyrosine hydroxylase gene in Parkinson disease (pages E1767–E1771)

      Güney Bademci, Todd L. Edwards, Andre L. Torres, William K. Scott, Stephan Züchner, Eden R. Martin, Jeffery M. Vance and Liyong Wang

      Version of Record online: 31 AUG 2010 | DOI: 10.1002/humu.21351

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