Human Mutation

Cover image for Vol. 31 Issue 8

August 2010

Volume 31, Issue 8

Pages v–v, 889–982, E1587–E1657

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. You have free access to this content
      Next-Gen Databasing Links Mutations with Prognosis and Clinical Outcome (page v)

      Rolf H. Sijmons and Morris A. Swertz

      Version of Record online: 15 JUL 2010 | DOI: 10.1002/humu.21318

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  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. ARX spectrum disorders: making inroads into the molecular pathology (pages 889–900)

      Cheryl Shoubridge, Tod Fullston and Jozef Gécz

      Version of Record online: 17 MAY 2010 | DOI: 10.1002/humu.21288

  3. Databases

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
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    2. You have free access to this content
      KvDB; mining and mapping sequence variants in voltage-gated potassium channels (pages 908–917)

      Lucy F. Stead, Ian C. Wood and David R. Westhead

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/humu.21295

  4. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. You have free access to this content
      Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing (pages 918–923)

      Emilie Lalonde, Steffen Albrecht, Kevin C.H. Ha, Karine Jacob, Nathalie Bolduc, Constantin Polychronakos, Pierre Dechelotte, Jacek Majewski and Nada Jabado

      Version of Record online: 1 JUN 2010 | DOI: 10.1002/humu.21293

    2. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B12 (pages 924–929)

      Edward V. Quadros, Shao-Chiang Lai, Yasumi Nakayama, Jeffrey M. Sequeira, Luciana Hannibal, Sihe Wang, Donald W. Jacobsen, Sergey Fedosov, Erica Wright, Renata C. Gallagher, Natascia Anastasio, David Watkins and David S. Rosenblatt

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/humu.21297

  5. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency (pages 930–941)

      María Morán, Lorena Marín-Buera, M. Carmen Gil-Borlado, Henry Rivera, Alberto Blázquez, Sara Seneca, María Vázquez-López, Joaquín Arenas, Miguel A. Martín and Cristina Ugalde

      Version of Record online: 1 JUN 2010 | DOI: 10.1002/humu.21294

    2. Short rare MUC6 minisatellites-5 alleles influence susceptibility to gastric carcinoma by regulating gene (pages 942–949)

      Jeong-Ah Kwon, Sang-Yeop Lee, Eun-Kyung Ahn, So-Young Seol, Min Chan Kim, Su Jin Kim, Seung Il Kim, In-Sun Chu and Sun-Hee Leem

      Version of Record online: 18 MAY 2010 | DOI: 10.1002/humu.21289

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      Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families (pages 950–960)

      Susana Igreja, Harvinder S. Chahal, Peter King, Graeme B. Bolger, Umasuthan Srirangalingam, Leonardo Guasti, J. Paul Chapple, Giampaolo Trivellin, Maria Gueorguiev, Katie Guegan, Karen Stals, Bernard Khoo, Ajith V. Kumar, Sian Ellard, Ashley B. Grossman and Márta Korbonits

      Version of Record online: 18 MAY 2010 | DOI: 10.1002/humu.21292

    4. Type I hyperprolinemia: genotype/phenotype correlations (pages 961–965)

      Audrey Guilmatre, Solenn Legallic, Gary Steel, Alecia Willis, Gabriella Di Rosa, Alice Goldenberg, Valérie Drouin-Garraud, Agnès Guet, Cyril Mignot, Vincent Des Portes, Vassili Valayannopoulos, Lionel Van Maldergem, Jodi D. Hoffman, Claudia Izzi, Caroline Espil-Taris, Simona Orcesi, Luisa Bonafé, Eric Le Galloudec, Hélène Maurey, Christine Ioos, Alexandra Afenjar, Patricia Blanchet, Bernard Echenne, Agathe Roubertie, Thierry Frebourg, David Valle and Dominique Campion

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/humu.21296

    5. Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome (pages 966–974)

      Noriko Miyake, Tomoki Kosho, Shuji Mizumoto, Tatsuya Furuichi, Atsushi Hatamochi, Yoji Nagashima, Eiichi Arai, Kazuo Takahashi, Rie Kawamura, Keiko Wakui, Jun Takahashi, Hiroyuki Kato, Hiroshi Yasui, Tadao Ishida, Hirofumi Ohashi, Gen Nishimura, Masaaki Shiina, Hirotomo Saitsu, Yoshinori Tsurusaki, Hiroshi Doi, Yoshimitsu Fukushima, Shiro Ikegawa, Shuhei Yamada, Kazuyuki Sugahara and Naomichi Matsumoto

      Version of Record online: 8 JUN 2010 | DOI: 10.1002/humu.21300

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      Identification of Lynch syndrome mutations in the MLH1–PMS2 interface that disturb dimerization and mismatch repair (pages 975–982)

      Jan Kosinski, Inga Hinrichsen, Janusz M. Bujnicki, Peter Friedhoff and Guido Plotz

      Version of Record online: 8 JUN 2010 | DOI: 10.1002/humu.21301

  6. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. You have free access to this content
      Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia (pages E1587–E1593)

      Claus E. Ott, Gundula Leschik, Fabienne Trotier, Louise Brueton, Han G. Brunner, Wim Brussel, Encarna Guillen-Navarro, Claudia Haase, Juergen Kohlhase, Dieter Kotzot, Andrew Lane, Min Ae Lee-Kirsch, Susanne Morlot, Marleen E.H. Simon, Elisabeth Steichen-Gersdorf, David H. Tegay, Hartmut Peters, Stefan Mundlos and Eva Klopocki

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/humu.21298

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      Human NPY promoter variation rs16147:T>C as a moderator of prefrontal NPY gene expression and negative affect (pages E1594–E1608)

      Wolfgang H. Sommer, Jessica Lidström, Hui Sun, Derek Passer, Robert Eskay, Stephen C.J. Parker, Stephanie H. Witt, Ulrich S. Zimmermann, Vanessa Nieratschker, Marcella Rietschel, Elliott H. Margulies, Miklós Palkovits, Manfred Laucht and Markus Heilig

      Version of Record online: 3 JUN 2010 | DOI: 10.1002/humu.21299

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      A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease (pages E1609–E1621)

      Axel Neu, Michele Eiselt, Matthias Paul, Kathrin Sauter, Birgit Stallmeyer, Dirk Isbrandt and Eric Schulze-Bahr

      Version of Record online: 17 JUN 2010 | DOI: 10.1002/humu.21302

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      Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients (pages E1622–E1631)

      Jose Antonio Aragon-Martin, Dana Ahnood, David G Charteris, Anand Saggar, Ken K Nischal, Paolo Comeglio, Aman Chandra, Anne H Child and Gavin Arno

      Version of Record online: 17 JUN 2010 | DOI: 10.1002/humu.21305

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      Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency (pages E1632–E1651)

      Fang-Yuan Li, Ayman W. El-Hattab, Erawati V. Bawle, Richard G. Boles, Eric S. Schmitt, Fernando Scaglia and Lee-Jun Wong

      Version of Record online: 22 JUN 2010 | DOI: 10.1002/humu.21311

  7. Databases in Brief

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Mutations in Brief
    8. Databases in Brief
    1. You have free access to this content
      The Alport syndrome COL4A5 variant database (pages E1652–E1657)

      David K. Crockett, Genevieve Pont-Kingdon, Frederick Gedge, Kelli Sumner, Ryan Seamons and Elaine Lyon

      Version of Record online: 22 JUN 2010 | DOI: 10.1002/humu.21312

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