Human Mutation

Cover image for Human Mutation

July 2009

Volume 30, Issue 7

Pages v–v, 1025–1138, E682–E770

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
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      Genetic heterogeneity and cystic fibrosis (page v)

      Garry R. Cutting

      Version of Record online: 23 JUN 2009 | DOI: 10.1002/humu.21062

  2. Mutation Updates

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
  3. Databases

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      SCA-LSVD: A repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias (pages 1037–1042)

      Mohammed Faruq, Vinod Scaria, Inder Singh, Shivani Tyagi, Achal K. Srivastava and Mitali Mukerji

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21006

  4. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
    1. BAK1 gene variation and abdominal aortic aneurysms (pages 1043–1047)

      Bruce Gottlieb, Lorraine E. Chalifour, Benjamin Mitmaker, Nathan Sheiner, Daniel Obrand, Cherrie Abraham, Melissa Meilleur, Tomoko Sugahara, Ghassan Bkaily and Morris Schweitzer

      Version of Record online: 12 MAY 2009 | DOI: 10.1002/humu.21046

  5. Research Articles

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
    1. Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene (pages 1048–1053)

      Lars G. Fritsche, Sandra Freitag-Wolf, Thomas Bettecken, Thomas Meitinger, Claudia N. Keilhauer, Michael Krawczak and Bernhard H.F. Weber

      Version of Record online: 18 DEC 2008 | DOI: 10.1002/humu.20957

    2. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population (pages 1054–1061)

      Karen Nuytemans, Bram Meeus, David Crosiers, Nathalie Brouwers, Dirk Goossens, Sebastiaan Engelborghs, Philippe Pals, Barbara Pickut, Marleen Van den Broeck, Ellen Corsmit, Patrick Cras, Peter P. De Deyn, Jurgen Del-Favero, Christine Van Broeckhoven and Jessie Theuns

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21007

    3. Allele variants in functional MicroRNA target sites of the neurotrophin-3 receptor gene (NTRK3) as susceptibility factors for anxiety disorders (pages 1062–1071)

      Margarita Muiños-Gimeno, Monica Guidi, Birgit Kagerbauer, Rocío Martín-Santos, Ricard Navinés, Pino Alonso, José M. Menchón, Mònica Gratacòs, Xavier Estivill and Yolanda Espinosa-Parrilla

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21005

    4. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations (pages 1072–1081)

      Jordan P. Lerner-Ellis, Natascia Anastasio, Junhui Liu, David Coelho, Terttu Suormala, Martin Stucki, Amanda D. Loewy, Scott Gurd, Elin Grundberg, Chantal F. Morel, David Watkins, Matthias R. Baumgartner, Tomi Pastinen, David S. Rosenblatt and Brian Fowler

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21001

    5. Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: A multicenter study (pages 1082–1092)

      Dominic J. McMullan, Michael Bonin, Jayne Y. Hehir-Kwa, Bert B.A. de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw, Angelika Riess, Özge Altug-Teber, Herbert Enders, Sylke Singer, Ute Grasshoff, Michael Walter, Judith M. Walker, Catherine V. Lamb, E. Val Davison, Louise Brueton, Olaf Riess and Joris A. Veltman

      Version of Record online: 18 MAR 2009 | DOI: 10.1002/humu.21015

    6. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease (pages 1093–1103)

      Abul Kalam Azad, Robert Rauh, François Vermeulen, Martine Jaspers, Judit Korbmacher, Brigitte Boissier, Laurence Bassinet, Yann Fichou, Marie des Georges, Frauke Stanke, Kris De Boeck, Lieven Dupont, Miroslava Balaščáková, Lena Hjelte, Patrick Lebecque, Dragica Radojkovic, Carlo Castellani, Marianne Schwartz, Manfred Stuhrmann, Martin Schwarz, Veronika Skalicka, Isabelle de Monestrol, Emmanuelle Girodon, Claude Férec, Mireille Claustres, Burkhard Tümmler, Jean-Jacques Cassiman, Christoph Korbmacher and Harry Cuppens

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21011

    7. A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function (pages 1104–1116)

      Chiara Vantaggiato, Francesca Redaelli, Sestina Falcone, Cristiana Perrotta, Alessandra Tonelli, Sara Bondioni, Michela Morbin, Daria Riva, Veronica Saletti, Maria C. Bonaglia, Roberto Giorda, Nereo Bresolin, Emilio Clementi and Maria T. Bassi

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21012

    8. Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients (pages 1117–1122)

      Laura Rodríguez-Pascau, Laura Gort, Edward H. Schuchman, Lluïsa Vilageliu, Daniel Grinberg and Amparo Chabás

      Version of Record online: 18 MAR 2009 | DOI: 10.1002/humu.21018

    9. Three common polymorphisms in the CYBA gene form a haplotype associated with decreased ROS generation (pages 1123–1133)

      Karen Bedard, Homa Attar, Jérôme Bonnefont, Vincent Jaquet, Christelle Borel, Olivier Plastre, Marie-José Stasia, Stylianos E. Antonarakis and Karl-Heinz Krause

      Version of Record online: 31 MAR 2009 | DOI: 10.1002/humu.21029

  6. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
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      Genomic variation in a global village: Report of the 10th annual Human Genome Variation Meeting 2008 (pages 1134–1138)

      Anthony J. Brookes, Stephen J. Chanock, Thomas J. Hudson, Leena Peltonen, Gonçalo Abecasis, Pui-Yan Kwok and Stephen W. Scherer

      Version of Record online: 3 MAR 2009 | DOI: 10.1002/humu.21008

  7. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Mutation Updates
    4. Databases
    5. Rapid Communications
    6. Research Articles
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene (pages E682–E691)

      Marianne Abifadel, Jean-Pierre Rabès, Sélim Jambart, Georges Halaby, Marie-Hélène Gannagé-Yared, Antoine Sarkis, Ghada Beaino, Mathilde Varret, Nabiha Salem, Sandra Corbani, Hermine Aydénian, Claudine Junien, Arnold Munnich and Catherine Boileau

      Version of Record online: 24 MAR 2009 | DOI: 10.1002/humu.21002

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      Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations (pages E692–E705)

      Marc Ferré, Dominique Bonneau, Dan Milea, Arnaud Chevrollier, Christophe Verny, Hélène Dollfus, Carmen Ayuso, Sabine Defoort, Catherine Vignal, Xavier Zanlonghi, Jean-Francois Charlin, Josseline Kaplan, Sylvie Odent, Christian P. Hamel, Vincent Procaccio, Pascal Reynier and Patrizia Amati-Bonneau

      Version of Record online: 24 MAR 2009 | DOI: 10.1002/humu.21025

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      Novel mutations in VANGL1 in neural tube defects (pages E706–E715)

      Zoha Kibar, Ciprian M. Bosoi, Megan Kooistra, Sandra Salem, Richard H. Finnell, Patrizia De Marco, Elisa Merello, Alexander G. Bassuk, Valeria Capra and Philippe Gros

      Version of Record online: 24 MAR 2009 | DOI: 10.1002/humu.21026

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      Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss (pages E716–E727)

      Soo-Young Choi, Hong-Joon Park, Kyu Yup Lee, Emilie Hoang Dinh, Qing Chang, Shoab Ahmad, Sang Heun Lee, Jinwoong Bok, Xi Lin and Un-Kyung Kim

      Version of Record online: 21 APR 2009 | DOI: 10.1002/humu.21036

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      Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency (pages E728–E736)

      Saskia J.G. Hoefs, Cindy E.J. Dieteren, Richard J. Rodenburg, Karin Naess, Helene Bruhn, Rolf Wibom, Esther Wagena, Peter H. Willems, Jan A.M. Smeitink, Leo G. Nijtmans and Lambert P. van den Heuvel

      Version of Record online: 21 APR 2009 | DOI: 10.1002/humu.21037

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      BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population (pages E737–E746)

      Jenea Bin, Jagadeesan Madhavan, Walter Ferrini, Calvin A. Mok, Gail Billingsley and Elise Héon

      Version of Record online: 28 APR 2009 | DOI: 10.1002/humu.21040

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      A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Nav1.1 related epilepsies? (pages E747–E760)

      Raffaella Rusconi, Romina Combi, Sandrine Cestèle, Daniele Grioni, Silvana Franceschetti, Leda Dalprà and Massimo Mantegazza

      Version of Record online: 28 APR 2009 | DOI: 10.1002/humu.21041

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      Identification and characterization of mutations in FANCL gene: A second case of Fanconi anemia belonging to FA-L complementation group (pages E761–E770)

      Abdullah Mahmood Ali, Michelle Kirby, Michael Jansen, Francis P. Lach, Jennifer Schulte, Thiyam Ramsing Singh, Sat D. Batish, Arleen D. Auerbach, David A. Williams and Amom Ruhikanta Meetei

      Version of Record online: 29 APR 2009 | DOI: 10.1002/humu.21032

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