Human Mutation

Cover image for Vol. 33 Issue 3

March 2012

Volume 33, Issue 3

Pages 5–590, E2317–E2331

  1. In this issue

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. You have free access to this content
    2. You have free access to this content
  2. Mutation Updates

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database (pages 457–466)

      Matthew Bower, Rémi Salomon, Judith Allanson, Corinne Antignac, Francesco Benedicenti, Elisa Benetti, Gil Binenbaum, Uffe B. Jensen, Pierre Cochat, Stephane DeCramer, Joanne Dixon, Regen Drouin, Marni J. Falk, Holly Feret, Robert Gise, Alasdair Hunter, Kisha Johnson, Rajiv Kumar, Marie Pierre Lavocat, Laura Martin, Vincent Morinière, David Mowat, Luisa Murer, Hiep T. Nguyen, Gabriela Peretz-Amit, Eric Pierce, Emily Place, Nancy Rodig, Ann Salerno, Sujatha Sastry, Tadashi Sato, John A. Sayer, Gerard C.P. Schaafsma, Lawrence Shoemaker, David W. Stockton, Wen-Hann Tan, Romano Tenconi, Philippe Vanhille, Abhay Vats, Xinjing Wang, Berta Warman, Richard G. Weleber, Susan M. White, Carolyn Wilson-Brackett, Dina J. Zand, Michael Eccles, Lisa A. Schimmenti and Laurence Heidet

      Article first published online: 31 JAN 2012 | DOI: 10.1002/humu.22020

  3. Brief Reports

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. Identification and functional characterization of two novel mutations in the α-helical loop (residues 484–503) of CYBB/gp91phox resulting in the rare X91+ variant of chronic granulomatous disease (pages 471–475)

      Bernadette Boog, Alex Quach, Maurizio Costabile, Joanne Smart, Patrick Quinn, Harmeet Singh, Michael Gold, Grant Booker, Sharon Choo, Charles S. Hii and Antonio Ferrante

      Article first published online: 3 JAN 2012 | DOI: 10.1002/humu.22003

    2. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex (pages 476–479)

      Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson, Steven P. Sparagana, Peter Davies, Cora Aalfs, Ans van den Ouweland, Dicky Halley and Mark Nellist

      Article first published online: 17 JAN 2012 | DOI: 10.1002/humu.22007

    3. A frequent somatic mutation in CD274 3′-UTR leads to protein over-expression in gastric cancer by disrupting miR-570 binding (pages 480–484)

      Weipeng Wang, Jing Sun, Fang Li, Rui Li, Yongping Gu, Cuiping Liu, Peng Yang, Ming Zhu, Lujun Chen, Wenyan Tian, Huan Zhou, Yong Mao, Liang Zhang, Jingting Jiang, Changping Wu, Dong Hua, Weichang Chen, Binfeng Lu, Jingfang Ju and Xueguang Zhang

      Article first published online: 17 JAN 2012 | DOI: 10.1002/humu.22014

    4. Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip (pages 485–487)

      Christian Thiel, Nina Rind, Diana Popovici, Georg F. Hoffmann, Kristen Hanson, Robert L. Conway, Craig R. Adamski, Elizabeth Butler, Rhonda Scanlon, Marie Lambert, Neophytos Apeshiotis, Charlotte Thiels, Gert Matthijs and Christian Körner

      Article first published online: 31 JAN 2012 | DOI: 10.1002/humu.22019

  4. Research Articles

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants (pages 488–494)

      Mark Drost, José B.M. Zonneveld, Sandrine van Hees, Lene Juel Rasmussen, Robert M.W. Hofstra and Niels de Wind

      Article first published online: 29 DEC 2011 | DOI: 10.1002/humu.22000

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      Static respiratory cilia associated with mutations in Dnahc11/DNAH11: A mouse model of PCD (pages 495–503)

      Jane S. Lucas, Elizabeth C. Adam, Patricia M. Goggin, Claire L. Jackson, Nicola Powles-Glover, Saloni H Patel, James Humphreys, Martin D. Fray, Emilie Falconnet, Jean-Louis Blouin, Michael T. Cheeseman, Lucia Bartoloni, Dominic P. Norris and Peter M. Lackie

      Article first published online: 29 DEC 2011 | DOI: 10.1002/humu.22001

    3. Non-USH2A mutations in USH2 patients (pages 504–510)

      Thomas Besnard, Christel Vaché, David Baux, Lise Larrieu, Caroline Abadie, Catherine Blanchet, Sylvie Odent, Patricia Blanchet, Patrick Calvas, Christian Hamel, Hélène Dollfus, Geneviève Lina-Granade, James Lespinasse, Albert David, Bertrand Isidor, Gilles Morin, Sue Malcolm, Sylvie Tuffery-Giraud, Mireille Claustres and Anne-Françoise Roux

      Article first published online: 6 JAN 2012 | DOI: 10.1002/humu.22004

    4. Identification of 83 novel alpha-mannosidosis-associated sequence variants: Functional analysis of MAN2B1 missense mutations (pages 511–520)

      Hilde Monica Frostad Riise Stensland, Helle Bagterp Klenow, Lam Van Nguyen, Gaute Martin Hansen, Dag Malm and Øivind Nilssen

      Article first published online: 23 JAN 2012 | DOI: 10.1002/humu.22005

    5. Genome-wide and gene-based association implicates FRMD6 in alzheimer disease (pages 521–529)

      Mun-Gwan Hong, Chandra A. Reynolds, Adina L. Feldman, Mikael Kallin, Jean-Charles Lambert, Philippe Amouyel, Erik Ingelsson, Nancy L. Pedersen and Jonathan A. Prince

      Article first published online: 23 JAN 2012 | DOI: 10.1002/humu.22009

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      Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells (pages 530–540)

      Nathalie Boone, Aurélie Bergon, Béatrice Loriod, Arnaud Devèze, Catherine Nguyen, Felicia B Axelrod and El Chérif Ibrahim

      Article first published online: 17 JAN 2012 | DOI: 10.1002/humu.22010

    7. Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/−) stem cells (pages 541–550)

      Angelika C. Roehl, Tanja Mussotter, David N. Cooper, Lan Kluwe, Katharina Wimmer, Josef Högel, Marion Zetzmann, Julia Vogt, Victor-Felix Mautner and Hildegard Kehrer-Sawatzki

      Article first published online: 23 JAN 2012 | DOI: 10.1002/humu.22013

    8. Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer (pages 551–560)

      Ziad Kanaan, Shesh N. Rai, M. Robert Eichenberger, Christopher Barnes, Amy M. Dworkin, Clayton Weller, Eric Cohen, Henry Roberts, Bobby Keskey, Robert E. Petras, Nigel P.S. Crawford and Susan Galandiuk

      Article first published online: 14 FEB 2012 | DOI: 10.1002/humu.22021

      Corrected by:

      Errata: Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease-associated colorectal cancer

      Vol. 33, Issue 5, 899, Article first published online: 13 APR 2012

    9. Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype–phenotype study (pages 561–571)

      Mijke M. M. Verhagen, James I. Last, Frans B. L. Hogervorst, Dominique F. C. M. Smeets, Nel Roeleveld, Frans Verheijen, Coriene E. Catsman-Berrevoets, Nico M. Wulffraat, Jan M. Cobben, Johan Hiel, Ewout R. Brunt, Els A. J. Peeters, Encarna B. Gómez Garcia, Marjo S. van der Knaap, Carsten R. Lincke, Laura A. E. M. Laan, Marina A. J. Tijssen, Monique A. van Rijn, Danielle Majoor-Krakauer, Marjan Visser, Laura J. van 't Veer, Wim J. Kleijer, Bart P. C. van de Warrenburg, Adilia Warris, Imelda J. M. de Groot, Ronald de Groot, Annegien Broeks, Frank Preijers, Berry H. P. H. Kremer, Corry M. R. Weemaes, Malcolm A. M. R. Taylor, Marcel van Deuren and Michèl A. A. P. Willemsen

      Article first published online: 25 JAN 2012 | DOI: 10.1002/humu.22016

  5. Methods

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome array (pages 572–581)

      Matteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, Francesca Gualandi and Alessandra Ferlini

      Article first published online: 25 JAN 2012 | DOI: 10.1002/humu.22017

  6. Meeting Reports

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. You have free access to this content
      HGV2011: Personalized genomic medicine meets the incidentalome (pages 582–585)

      Melissa A. Wilson Sayres, Anthony J. Brookes, Stephen J. Chanock, Vivian G. Cheung, David B. Goldstein, Li Jin and Pui-Yan Kwok

      Article first published online: 17 JAN 2012 | DOI: 10.1002/humu.22008

    2. You have free access to this content
  7. Database in Brief

    1. Top of page
    2. In this issue
    3. Mutation Updates
    4. Brief Reports
    5. Research Articles
    6. Methods
    7. Meeting Reports
    8. Database in Brief
    1. You have free access to this content
      UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene (pages E2317–E2331)

      Gaelle Blandin, Christophe Beroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, Dalil Hamroun, Brad Williams, Nilah Monnier, Laura E. Rufibach, Jon Andoni Urtizberea, Pierre Cau, Marc Bartoli, Nicolas Lévy and Martin Krahn

      Article first published online: 29 DEC 2011 | DOI: 10.1002/humu.22015

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