Human Mutation

Cover image for Vol. 33 Issue 2

February 2012

Volume 33, Issue 2

Pages v–v, 291–456

  1. In this issue

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. You have free access to this content
  2. Special Articles

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. You have free access to this content
      Curating gene variant databases (LSDBs): Toward a universal standard (pages 291–297)

      Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner and Johan T. den Dunnen

      Article first published online: 3 NOV 2011 | DOI: 10.1002/humu.21626

    2. You have free access to this content
      Guidelines for establishing locus specific databases (pages 298–305)

      Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish and Richard G. H. Cotton

      Article first published online: 9 DEC 2011 | DOI: 10.1002/humu.21646

  3. Mutation Updates

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. CRB1 mutations in inherited retinal dystrophies (pages 306–315)

      Kinga Bujakowska, Isabelle Audo, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Thierry Léveillard, Mélanie Letexier, Jean-Paul Saraiva, Christine Lonjou, Wassila Carpentier, José-Alain Sahel, Shomi S. Bhattacharya and Christina Zeitz

      Article first published online: 27 DEC 2011 | DOI: 10.1002/humu.21653

    2. Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis (pages 316–326)

      Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol Clericuzio, Géraldine Viot, Julia Tantau, Sophie Blesson, Sylvie Cloarec, Marie Christine Machet, David Chitayat, Christelle Thauvin, Nicole Laurent, Julian R. Sampson, Jonathan A Bernstein, Alix Clemenson, Fabienne Prieur, Laurent Daniel, Annie Levy-Mozziconacci, Katherine Lachlan, Jean Luc Alessandri, François Cartault, Jean Pierre Rivière, Nicole Picard, Clarisse Baumann, Anne Lise Delezoide, Maria Belar Ortega, Nicolas Chassaing, Philippe Labrune, Sui Yu, Helen Firth, Diana Wellesley, Martin Bitzan, Ahmed Alfares, Nancy Braverman, Lotte Krogh, John Tolmie, Harald Gaspar, Bérénice Doray, Silvia Majore, Dominique Bonneau, Stéphane Triau, Chantal Loirat, Albert David, Deborah Bartholdi, Amir Peleg, Damien Brackman, Rosario Stone, Ralph DeBerardinis, Pierre Corvol, Annie Michaud, Corinne Antignac and Marie Claire Gubler

      Article first published online: 22 DEC 2011 | DOI: 10.1002/humu.21661

  4. Databases

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. The COL7A1 mutation database (pages 327–331)

      Katarzyna Wertheim-Tysarowska, Agnieszka Sobczyńska-Tomaszewska, Cezary Kowalewski, Michał Skroński, Grzegorz Święćkowski, Anna Kutkowska-Kaźmierczak, Katarzyna Woźniak and Jerzy Bal

      Article first published online: 20 DEC 2011 | DOI: 10.1002/humu.21651

  5. Informatics

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. You have free access to this content
    2. Identification of autosomal recessive disease loci using out-bred nuclear families (pages 338–342)

      Ian M. Carr, Christine P. Diggle, Nader Touqan, Rashida Anwar, Eamonn G. Sheridan, David T. Bonthron, Colin A. Johnson, Manir Ali and Alexander F. Markham

      Article first published online: 28 NOV 2011 | DOI: 10.1002/humu.21645

  6. Rapid Communications

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta (pages 343–350)

      Víctor Martínez-Glez, Maria Valencia, José A. Caparrós-Martín, Mona Aglan, Samia Temtamy, Jair Tenorio, Veronica Pulido, Uschi Lindert, Marianne Rohrbach, David Eyre, Cecilia Giunta, Pablo Lapunzina and Victor L. Ruiz-Perez

      Article first published online: 30 NOV 2011 | DOI: 10.1002/humu.21647

  7. Brief Reports

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia (pages 351–354)

      Nada Al Tassan, Dania Khalil, Jameela Shinwari, Latifa Al Sharif, Prashant Bavi, Zainularifeen Abduljaleel, Nada Abu Dhaim, Amna Magrashi, Steve Bobis, Hala Ahmed, Samaher AlAhmed and Saeed Bohlega

      Article first published online: 8 DEC 2011 | DOI: 10.1002/humu.21650

    2. Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability (pages 355–358)

      Céline Bonnet, Alice Masurel-Paulet, Asma Ali Khan, Mylène Béri-Dexheimer, Patrick Callier, Francine Mugneret, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre and Philippe Jonveaux

      Article first published online: 28 NOV 2011 | DOI: 10.1002/humu.21649

    3. VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans (pages 364–368)

      Anne M. Slavotinek, Ryan Chao, Tomas Vacik, Mani Yahyavi, Hana Abouzeid, Tanya Bardakjian, Adele Schneider, Gary Shaw, Elliott H. Sherr, Greg Lemke, Mohammed Youssef and Daniel F. Schorderet

      Article first published online: 27 DEC 2011 | DOI: 10.1002/humu.21658

    4. Pathogenic orphan transduction created by a nonreference LINE-1 retrotransposon (pages 369–371)

      Szilvia Solyom, Adam D. Ewing, Dustin C. Hancks, Yasuhiro Takeshima, Hiroyuki Awano, Masafumi Matsuo and Haig H. Kazazian Jr

      Article first published online: 8 DEC 2011 | DOI: 10.1002/humu.21663

  8. Research Articles

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions (pages 372–383)

      Antje M. Zickler, Stephanie Hampp, Ludwine Messiaen, Kathrin Bengesser, Tanja Mussotter, Angelika C. Roehl, Katharina Wimmer, Victor-Felix Mautner, Lan Kluwe, Meena Upadhyaya, Eric Pasmant, Nadia Chuzhanova, Hans A. Kestler, Josef Högel, Eric Legius, Kathleen Claes, David N. Cooper and Hildegard Kehrer-Sawatzki

      Article first published online: 9 DEC 2011 | DOI: 10.1002/humu.21644

    2. You have full text access to this OnlineOpen article
      FZD6 is a novel gene for human neural tube defects (pages 384–390)

      Patrizia De Marco, Elisa Merello, Andrea Rossi, Gianluca Piatelli, Armando Cama, Zoha Kibar and Valeria Capra

      Article first published online: 28 NOV 2011 | DOI: 10.1002/humu.21643

    3. A novel mutation impairing the tertiary structure and stability of γC-crystallin (CRYGC) leads to cataract formation in humans and zebrafish lens (pages 391–401)

      Xiao-Qiao Li, Hong-Chen Cai, Shi-Yi Zhou, Ju-Hua Yang, Yi-Bo Xi, Xiao-Bo Gao, Wei-Jie Zhao, Peng Li, Guang-Yu Zhao, Yi Tong, Fan-Chen Bao, Yan Ma, Sha Wang, Yong-Bin Yan, Cai-Ling Lu and Xu Ma

      Article first published online: 8 DEC 2011 | DOI: 10.1002/humu.21648

    4. CDH13 gene coding t-cadherin influences variations in plasma adiponectin levels in the Japanese population (pages 402–410)

      Hiroko Morisaki, Itaru Yamanaka, Naoharu Iwai, Yoshihiro Miyamoto, Yoshihiro Kokubo, Tomonori Okamura, Akira Okayama and Takayuki Morisaki

      Article first published online: 8 DEC 2011 | DOI: 10.1002/humu.21652

    5. Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations (pages 419–428)

      Gonzalo L. Vilas, Sampath K. Loganathan, Anita Quon, Periasamy Sundaresan, Eranga N. Vithana and Joseph Casey

      Article first published online: 20 DEC 2011 | DOI: 10.1002/humu.21655

    6. Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications (pages 429–439)

      Tayebeh Soheili, Evelyne Gicquel, Jérôme Poupiot, Luu N'Guyen, Florence Le Roy, Marc Bartoli and Isabelle Richard

      Article first published online: 22 DEC 2011 | DOI: 10.1002/humu.21659

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      Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis (pages 440–447)

      Alexis Robinson, Sarah Escuin, Kit Doudney, Michel Vekemans, Roger E. Stevenson, Nicholas D.E. Greene, Andrew J. Copp and Philip Stanier

      Article first published online: 20 DEC 2011 | DOI: 10.1002/humu.21662

    8. Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels (pages 448–455)

      Roeland Huijgen, Barbara Sjouke, Kelly Vis, Janine S.E. de Randamie, Joep C. Defesche, John J.P. Kastelein, G. Kees Hovingh and Sigrid W. Fouchier

      Article first published online: 22 DEC 2011 | DOI: 10.1002/humu.21660

  9. Errata

    1. Top of page
    2. In this issue
    3. Special Articles
    4. Mutation Updates
    5. Databases
    6. Informatics
    7. Rapid Communications
    8. Brief Reports
    9. Research Articles
    10. Errata
    1. You have free access to this content
      Common CFTR haplotypes and susceptibility to chronic pancreatitis and congenital bilateral absence of the vas deferens (page 456)

      Bernhard Steiner, Jonas Rosendahl, Heiko Witt, Niels Teich, Volker Keim, Hans-Ulrich Schulz, Roland Pfützer, Matthias Löhr, Thomas M. Gress, Renate Nickel, Olfert Landt, Monika Koudova, Milan Macek Jr, Antoni Farre, Teresa Casals, Marie-Claire Desax, Sabina Gallati, Macarena Gomez-Lira, Marie Pierre Audrezet, Claude Férec, Marie des Georges, Mireille Claustres and Kaspar Truninger

      Article first published online: 12 JAN 2012 | DOI: 10.1002/humu.22006

      This article corrects:

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