Human Mutation

Cover image for Human Mutation

November 2007

Volume 28, Issue 11

Pages 1047–1150

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes (pages 1047–1054)

      Jianghua Ou, Renée C. Niessen, Anne Lützen, Rolf H. Sijmons, Jan. H. Kleibeuker, Niels de Wind, Lene Juel Rasmussen and Robert M.W. Hofstra

      Article first published online: 26 JUN 2007 | DOI: 10.1002/humu.20580

  2. Research Articles

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A) (pages 1055–1064)

      Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet-Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie-Laure Moutard, Jean-Pierre Fryns, Hilde van Esch, Robert J. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord and Jamel Chelly

      Article first published online: 21 JUN 2007 | DOI: 10.1002/humu.20572

    2. Effect of heterogeneity on the chromosome 10 risk in late-onset Alzheimer disease (pages 1065–1073)

      Xueying Liang, Eden R. Martin, Nathalie Schnetz-Boutaud, Jackie Bartlett, Brent Anderson, Stephan Züchner, Harry Gwirtsman, Don Schmechel, Regina Carney, John R. Gilbert, Margaret A. Pericak-Vance and Jonathan L. Haines

      Article first published online: 15 JUN 2007 | DOI: 10.1002/humu.20567

    3. Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis (pages 1074–1083)

      Artur V. Cideciyan, Tomas S. Aleman, Samuel G. Jacobson, Hemant Khanna, Alexander Sumaroka, Geoffrey K. Aguirre, Sharon B. Schwartz, Elizabeth A.M. Windsor, Shirley He, Bo Chang, Edwin M. Stone and Anand Swaroop

      Article first published online: 6 JUN 2007 | DOI: 10.1002/humu.20565

    4. Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation (pages 1084–1090)

      Jessie Auclair, Dominique Leroux, Françoise Desseigne, Christine Lasset, Jean Christophe Saurin, Marie Odile Joly, Stéphane Pinson, Xiao Li Xu, Gilles Montmain, Eric Ruano, Claudine Navarro, Alain Puisieux and Qing Wang

      Article first published online: 7 JUN 2007 | DOI: 10.1002/humu.20569

    5. Functional polymorphisms and haplotypes in the promoter of the MMP2 gene are associated with risk of nasopharyngeal carcinoma (pages 1091–1097)

      Gangqiao Zhou, Yun Zhai, Ying Cui, Wei Qiu, Hao Yang, Xiumei Zhang, Xiaojia Dong, Ying He, Kaitai Yao, Hongxing Zhang, Yong Peng, Xiaoyan Yuan, Lianteng Zhi, Xiaoai Zhang and Fuchu He

      Article first published online: 2 JUL 2007 | DOI: 10.1002/humu.20570

    6. Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome (pages 1098–1107)

      Pascale Saugier-Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin-Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder-Espinasse, Joëlle Roume, Valérie Malan, Marie-France Portnoi, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier-Daire, Thierry Billette de Villemeur, Thierry Frébourg and Lydie Bürglen

      Article first published online: 12 JUN 2007 | DOI: 10.1002/humu.20568

    7. Identification of novel ATP7B gene mutations and their functional roles in Korean patients with Wilson disease (pages 1108–1113)

      Sangwook Park, Jung-Young Park, Gu-Hwan Kim, Jin-Ho Choi, Kyung-Mo Kim, Jong-Bae Kim and Han-Wook Yoo

      Article first published online: 22 JUN 2007 | DOI: 10.1002/humu.20574

    8. Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome (pages 1114–1123)

      Jan D. Marshall, Elizabeth G. Hinman, Gayle B. Collin, Sebastian Beck, Rita Cerqueira, Pietro Maffei, Gabriella Milan, Weidong Zhang, David I. Wilson, Tom Hearn, Purificação Tavares, Roberto Vettor, Caterina Veronese, Mitchell Martin, W. Venus So, Patsy M. Nishina and Jürgen K. Naggert

      Article first published online: 26 JUN 2007 | DOI: 10.1002/humu.20577

    9. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization (pages 1124–1132)

      Yao-Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul Benke, Peter Mundy and Louis J. Elsas

      Article first published online: 9 JUL 2007 | DOI: 10.1002/humu.20581

  3. Methods

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system (pages 1133–1140)

      Steven F. Dobrowolski, Clinton E. Ellingson, Ljubica Caldovic and Mendel Tuchman

      Article first published online: 12 JUN 2007 | DOI: 10.1002/humu.20558

    2. Sample selection algorithm to improve quality of genotyping from plasma-derived DNA: to separate the wheat from the chaff (pages 1141–1149)

      Veit Schoenborn, Henning Gohlke, Iris M. Heid, Thomas Illig, Gerd Utermann and Florian Kronenberg

      Article first published online: 5 JUL 2007 | DOI: 10.1002/humu.20575

  4. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. You have free access to this content
      AVPR1A and OXTR polymorphisms are associated with sexual and reproductive behavioral phenotypes in humans (page 1150)

      Zoë M. Prichard, Andrew J. Mackinnon, Anthony F. Jorm and Simon Easteal

      Article first published online: 15 OCT 2007 | DOI: 10.1002/humu.9510

    2. You have free access to this content
      Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes (page 1150)

      O. Porzio, O. Massa, V. Cunsolo, C. Colombo, M. Malaponti, F. Bertuzzi, T. Hansen, A. Johansen, O. Pedersen, F. Meschi, A. Terrinoni, G. Melino, M. Federici, N. Decarlo, M. Menicagli, D. Campani, P. Marchetti, M. Ferdaoussi, P. Froguel, G. Federici, M. Vaxillaire and F. Barbetti

      Article first published online: 15 OCT 2007 | DOI: 10.1002/humu.9511