Human Mutation

Cover image for Human Mutation

August 2009

Volume 30, Issue 8

Pages v–v, 1139–1244, E771–E830

  1. In this issue

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Dissecting initiation of gene conversion events (page v)

      Maris Laan

      Article first published online: 22 JUL 2009 | DOI: 10.1002/humu.21084

    2. You have free access to this content
  2. Reviews

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
  3. Mutation Updates

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      LRRK2 gene variation and its contribution to Parkinson disease (pages 1153–1160)

      Coro Paisán-Ruiz

      Article first published online: 21 APR 2009 | DOI: 10.1002/humu.21038

  4. Informatics

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Prediction of function changes associated with single-point protein mutations using support vector machines (SVMs) (pages 1161–1166)

      Shan Gao, Ning Zhang, Guang You Duan, Zhuo Yang, Ji Shou Ruan and Tao Zhang

      Article first published online: 20 MAY 2009 | DOI: 10.1002/humu.21039

  5. Research Articles

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Molecular profiling of the “plexinome” in melanoma and pancreatic cancer (pages 1167–1174)

      Asha Balakrishnan, Junia Y. Penachioni, Simona Lamba, Fonnet E. Bleeker, Carlo Zanon, Monica Rodolfo, Viviana Vallacchi, Aldo Scarpa, Lara Felicioni, Matthias Buck, Antonio Marchetti, Paolo M. Comoglio, Alberto Bardelli and Luca Tamagnone

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.21017

    2. Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: An updated map of candidate loci (pages 1175–1182)

      Claude Bendavid, Lucie Rochard, Christèle Dubourg, Jonathan Seguin, Isabelle Gicquel, Laurent Pasquier, Jaqueline Vigneron, Annie Laquerrière, Pascale Marcorelles, Corinne Jeanne-Pasquier, Caroline Rouleau, Sylvie Jaillard, Jean Mosser, Sylvie Odent and Veronique David

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.21016

    3. Predicting the pathogenicity of RPE65 mutations (pages 1183–1188)

      A.R. Philp, M. Jin, S. Li, E.I. Schindler, A. Iannaccone, B.L. Lam, R.G. Weleber, G.A. Fishman, S.G. Jacobson, R.F. Mullins, Gabriel H. Travis and Edwin M. Stone

      Article first published online: 8 APR 2009 | DOI: 10.1002/humu.21033

    4. Gene conversion causing human inherited disease: Evidence for involvement of non-B-DNA-forming sequences and recombination-promoting motifs in DNA breakage and repair (pages 1189–1198)

      Nadia Chuzhanova, Jian-Min Chen, Albino Bacolla, George P. Patrinos, Claude Férec, Robert D. Wells and David N. Cooper

      Article first published online: 18 MAR 2009 | DOI: 10.1002/humu.21020

    5. A gene-alteration profile of human lung cancer cell lines (pages 1199–1206)

      Raquel Blanco, Reika Iwakawa, Moying Tang, Takashi Kohno, Barbara Angulo, Ruben Pio, Luis M. Montuenga, John D. Minna, Jun Yokota and Montse Sanchez-Cespedes

      Article first published online: 20 MAY 2009 | DOI: 10.1002/humu.21028

    6. APP and BACE1 miRNA genetic variability has no major role in risk for Alzheimer disease (pages 1207–1213)

      Karolien Bettens, Nathalie Brouwers, Sebastiaan Engelborghs, Helen Van Miegroet, Peter P. De Deyn, Jessie Theuns, Kristel Sleegers and Christine Van Broeckhoven

      Article first published online: 31 MAR 2009 | DOI: 10.1002/humu.21027

    7. GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase (pages 1214–1221)

      Doris Hofer, Karl Paul, Katrin Fantur, Michael Beck, Friederike Bürger, Catherine Caillaud, Ksenija Fumic, Jana Ledvinova, Agnieszka Lugowska, Helen Michelakakis, Briguita Radeva, Uma Ramaswami, Barbara Plecko and Eduard Paschke

      Article first published online: 4 APR 2009 | DOI: 10.1002/humu.21031

    8. Modeling ATM mutant proteins from missense changes confirms retained kinase activity (pages 1222–1230)

      Giancarlo Barone, Alix Groom, Anne Reiman, Venkataramanan Srinivasan, Philip J. Byrd and A. Malcolm R. Taylor

      Article first published online: 8 APR 2009 | DOI: 10.1002/humu.21034

    9. Functional variant in microRNA-196a2 contributes to the susceptibility of congenital heart disease in a Chinese population (pages 1231–1236)

      Jing Xu, Zhibin Hu, ZhengFeng Xu, Haiyong Gu, Long Yi, Hailong Cao, Jiaping Chen, Tian Tian, Jie Liang, Ying Lin, Wanshan Qiu, Hongxia Ma, Hongbing Shen and Yijiang Chen

      Article first published online: 12 MAY 2009 | DOI: 10.1002/humu.21044

  6. Methods

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Functional annotations improve the predictive score of human disease-related mutations in proteins (pages 1237–1244)

      Remo Calabrese, Emidio Capriotti, Piero Fariselli, Pier Luigi Martelli and Rita Casadio

      Article first published online: 12 MAY 2009 | DOI: 10.1002/humu.21047

  7. Mutations in Brief

    1. Top of page
    2. In this issue
    3. Reviews
    4. Mutation Updates
    5. Informatics
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Molecular characterization of the new defective Pbrescia alpha1-antitrypsin allele (pages E771–E781)

      Daniela Medicina, Nadia Montani, Anna M. Fra, Laura Tiberio, Luciano Corda, Elena Miranda, Alessandro Pezzini, Fausta Bonetti, Rosaria Ingrassia, Roberta Scabini, Fabio Facchetti and Luisa Schiaffonati

      Article first published online: 12 MAY 2009 | DOI: 10.1002/humu.21043

    2. You have free access to this content
      Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase (pages E782–E796)

      Veronique B.D. Kitiratschky, Petra Behnen, Ulrich Kellner, John R Heckenlively, Eberhart Zrenner, Herbert Jägle, Susanne Kohl, Bernd Wissinger and Karl-Wilhelm Koch

      Article first published online: 20 MAY 2009 | DOI: 10.1002/humu.21055

    3. You have free access to this content
      High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families (pages E797–E812)

      George Chong, Jonathan Jarry, Victoria Marcus, Isabelle Thiffault, Sebastian Winocour, Yury Monczak, Régen Drouin, Jean Latreille, Karlene Australie, Bharati Bapat, Philip H. Gordon, Yves Giguère, Adrian Gologan, Polymnia Galiatsatos, Jeremy R. Jass, Nora Wong, Sonya Zaor, Laura Palma, Lidia Kasprzak, Marc Tischkowitz and William D. Foulkes

      Article first published online: 20 MAY 2009 | DOI: 10.1002/humu.21056

    4. You have free access to this content
      Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? (pages E813–E830)

      Jonna Tallila, Riitta Salonen, Nicolai Kohlschmidt, Leena Peltonen and Marjo Kestilä

      Article first published online: 22 MAY 2009 | DOI: 10.1002/humu.21057

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