Human Mutation

Copyright © 2013 Wiley Periodicals Inc.

Cover image for Vol. 31 Issue 11

November 2010

Volume 31, Issue 11

Pages v–v, 1179–1268, E1772–E1874

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      One of the Reasons Why Humans, and not Sponges or Worms, get Psychiatric Disorders? (page v)

      Hamish S. Scott

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21380

    2. You have full text access to this OnlineOpen article
      Expanded Carrier Screening in the Ashkenazi Jewish Population (page v)

      John Mitchell

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21381

  2. Special Articles

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs) (pages 1179–1184)

      Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige, Maria-Jesus Sobrido, Ingrid Winship and Richard G.H. Cotton

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21339

  3. Reviews

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. NKX2–5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) (pages 1185–1194)

      Stella Marie Reamon-Buettner and Juergen Borlak

      Article first published online: 12 OCT 2010 | DOI: 10.1002/humu.21345

    2. miRNA genes and the brain: implications for psychiatric disorders (pages 1195–1204)

      Diego A. Forero, Karlijn van der Ven, Patrick Callaerts and Jurgen Del-Favero

      Article first published online: 14 OCT 2010 | DOI: 10.1002/humu.21344

  4. Databases

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have free access to this content
      Leiden open variation database of the MUTYH gene (pages 1205–1215)

      Astrid A. Out, Carli M.J. Tops, Maartje Nielsen, Marjan M. Weiss, Ivonne J.H.M. van Minderhout, Ivo F.A.C. Fokkema, Marie-Pierre Buisine, Kathleen Claes, Chrystelle Colas, Riccardo Fodde, Florentia Fostira, Patrick F. Franken, Mette Gaustadnes, Karl Heinimann, Shirley V. Hodgson, Frans B.L. Hogervorst, Elke Holinski-Feder, Kristina Lagerstedt-Robinson, Sylviane Olschwang, van den Ouweland Ans M.W., Egbert J.W. Redeker, Rodney J. Scott, Bruno Vankeirsbilck, Rikke Veggerby Grønlund, Juul T. Wijnen, Friedrik P. Wikman, Stefan Aretz, Julian R. Sampson, Peter Devilee, Johan T. den Dunnen and Frederik J. Hes

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21343

  5. Databasess

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. Development of NIPBL Locus-Specific Database Using LOVD: From Novel Mutations to Further Genotype–Phenotype Correlations in Cornelia de Lange Syndrome (pages 1216–1222)

      Jorge Oliveira, Cristina Dias, Egbert Redeker, Eurico Costa, João Silva, Margarida Reis Lima, Johan T. den Dunnen and Rosário Santos

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21352

  6. Informaticss

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have free access to this content
      MicroSNiPer: a web tool for prediction of SNP effects on putative microRNA targets (pages 1223–1232)

      Maxim Barenboim, Brad J. Zoltick, Yongjian Guo and Daniel R. Weinberger

      Article first published online: 7 OCT 2010 | DOI: 10.1002/humu.21349

  7. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. Musculocontractural Ehlers-Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene (pages 1233–1239)

      Fransiska Malfait, Delfien Syx, Philip Vlummens, Sofie Symoens, Sheela Nampoothiri, Trinh Hermanns-Lê, Lut Van Laer and Anne De Paepe

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21355

  8. Research Articles

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases (pages 1240–1250)

      Stuart A. Scott, Lisa Edelmann, Liu Liu, Minjie Luo, Robert J. Desnick and Ruth Kornreich

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21327

    2. Molecular Mechanisms Leading to Null-Protein Product from Retinoschisin (RS1) Signal-Sequence Mutants in X-Linked Retinoschisis (XLRS) Disease (pages 1251–1260)

      Camasamudram Vijayasarathy, Ruifang Sui, Yong Zeng, Guoxing Yang, Fei Xu, Rafael C. Caruso, Richard A. Lewis, Lucia Ziccardi and Paul A. Sieving

      Article first published online: 28 OCT 2010 | DOI: 10.1002/humu.21350

    3. You have free access to this content
      Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy (pages 1261–1268)

      S. Amer Riazuddin, Eranga N. Vithana, Li-Fong Seet, Yangjian Liu, Amr Al-Saif, Li Wei Koh, Yee Meng Heng, Tin Aung, Danielle N. Meadows, Allen O. Eghrari, John D. Gottsch and Nicholas Katsanis

      Article first published online: 14 OCT 2010 | DOI: 10.1002/humu.21356

  9. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa (pages E1772–E1800)

      Isabel Barragán, Salud Borrego, Juan Ignacio Pieras, María González-del Pozo, Javier Santoyo, Carmen Ayuso, Montserrat Baiget, José M. Millan, Marcela Mena, Mai M. Abd El-Aziz, Isabelle Audo, Christina Zeitz, Karin W. Littink, Joaquín Dopazo, Shomi S. Bhattacharya and Guillermo Antiñolo

      Article first published online: 31 AUG 2010 | DOI: 10.1002/humu.21334

  10. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      LQTS gene LOVD database (pages E1801–E1810)

      Tao Zhang, Arthur Moss, Peikuan Cong, Min Pan, Bingxi Chang, Liangrong Zheng, Quan Fang, Wojciech Zareba, Jennifer Robinson, Changsong Lin, Zhongxiang Li, Junfang Wei, Qiang Zeng and Ming Qi

      Article first published online: 31 AUG 2010 | DOI: 10.1002/humu.21341

  11. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Special Articles
    4. Reviews
    5. Databases
    6. Databasess
    7. Informaticss
    8. Rapid Communications
    9. Research Articles
    10. Mutations in Brief
    11. Databases in Brief
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Molecular Spectrum of Autosomal Dominant Hypercholesterolemia in France (pages E1811–E1824)

      Marie Marduel, Alain Carrié, Agnes Sassolas, Martine Devillers, Valérie Carreau, Mathilde Di Filippo, Danièle Erlich, Marianne Abifadel, Alice Marques-Pinheiro, Arnold Munnich, Claudine Junien, Catherine Boileau, Mathilde Varret and Jean-Pierre Rabès

      Article first published online: 31 AUG 2010 | DOI: 10.1002/humu.21348

    2. You have full text access to this OnlineOpen article
      A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization (pages E1825–E1835)

      Sara Molatore, Ilaria Marinoni, Misu Lee, Elke Pulz, Maria Rosaria Ambrosio, Ettore C. degli Uberti, Maria Chiara Zatelli and Natalia S. Pellegata

      Article first published online: 7 SEP 2010 | DOI: 10.1002/humu.21354

    3. You have full text access to this OnlineOpen article
      Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression (pages E1836–E1850)

      Holger Thiele, Marcel du Moulin, Katarzyna Barczyk, Christel George, Wolfram Schwindt, Gudrun Nürnberg, Michael Frosch, Gerhard Kurlemann, Johannes Roth, Peter Nürnberg and Frank Rutsch

      Article first published online: 14 SEP 2010 | DOI: 10.1002/humu.21357

    4. You have full text access to this OnlineOpen article
      Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits (pages E1851–E1860)

      Denise Horn, Johannes Kapeller, Núria Rivera-Brugués, Ute Moog, Bettina Lorenz-Depiereux, Sebastian Eck, Maja Hempel, Janine Wagenstaller, Alex Gawthrope, Anthony P. Monaco, Michael Bonin, Olaf Riess, Eva Wohlleber, Thomas Illig, Connie R. Bezzina, Andre Franke, Stephanie Spranger, Pablo Villavicencio-Lorini, Wenke Seifert, Jochen Rosenfeld, Eva Klopocki, Gudrun A. Rappold and Tim M. Strom

      Article first published online: 16 SEP 2010 | DOI: 10.1002/humu.21362

    5. You have full text access to this OnlineOpen article
      Adenine DNA glycosylase activity of 14 Human MutY homolog (MUTYH) variant proteins found in patients with colorectal polyposis and cancer (pages E1861–E1874)

      Masanori Goto, Kazuya Shinmura, Yusaku Nakabeppu, Hong Tao, Hidetaka Yamada, Toshihiro Tsuneyoshi and Haruhiko Sugimura

      Article first published online: 16 SEP 2010 | DOI: 10.1002/humu.21363

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