Human Mutation

Cover image for Vol. 33 Issue 7

July 2012

Volume 33, Issue 7

Pages v–v, 1021–1148

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    1. You have free access to this content
      Influence of genetic variation on alternate MUTYH transcript isoforms (page v)

      Susan M. Farrington

      Article first published online: 5 JUN 2012 | DOI: 10.1002/humu.22576

    2. You have free access to this content
  2. Reviews

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
  3. Databases

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    1. Rett networked database: An integrated clinical and genetic network of rett syndrome databases (pages 1031–1036)

      Elisa Grillo, Laurent Villard, Angus Clarke, Bruria Ben Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Anna Hryniewiecka-Jaworska, Thierry Bienvenu, Judith Armstrong, Ana Roche-Martínez, Francesca Mari, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Vlatka Mejaški Bošnjak, Noémi Polgár, Francesca Cogliati, Kirstine Ravn, Maria Pintaudi, Béla Melegh, Dana Craiu, Aleksandra Djukic and Alessandra Renieri

      Article first published online: 13 APR 2012 | DOI: 10.1002/humu.22072

  4. Rapid Communications

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    1. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond–blackfan anemia (pages 1037–1044)

      Hanna T. Gazda, Milena Preti, Mee Rie Sheen, Marie-Françoise O'Donohue, Adrianna Vlachos, Stella M. Davies, Antonis Kattamis, Leana Doherty, Michael Landowski, Christopher Buros, Roxanne Ghazvinian, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes and Alan H. Beggs

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22081

  5. Brief Reports

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    1. Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis (pages 1045–1050)

      Isabel Spier, Sukanya Horpaopan, Stefanie Vogt, Siegfried Uhlhaas, Monika Morak, Dietlinde Stienen, Markus Draaken, Michael Ludwig, Elke Holinski-Feder, Markus M. Nöthen, Per Hoffmann and Stefan Aretz

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22082

    2. Insertion of an SVA element, a nonautonomous retrotransposon, in PMS2 intron 7 as a novel cause of lynch syndrome (pages 1051–1055)

      Heleen M. van der Klift, Carli M. Tops, Frederik J. Hes, Peter Devilee and Juul T. Wijnen

      Article first published online: 30 APR 2012 | DOI: 10.1002/humu.22092

    3. Inherited deleterious variants in GALNT12 are associated with CRC susceptibility (pages 1056–1058)

      Erica Clarke, Roger C. Green, Jane S. Green, Krista Mahoney, Patrick S. Parfrey, H. Banfield Younghusband and Michael O. Woods

      Article first published online: 9 APR 2012 | DOI: 10.1002/humu.22088

    4. Targeted exome sequencing in clear cell renal cell carcinoma tumors suggests aberrant chromatin regulation as a crucial step in ccRCC development (pages 1059–1062)

      Gerben Duns, Robert M.W. Hofstra, Jantine G. Sietzema, Harry Hollema, Inge van Duivenbode, Angela Kuik, Cor Giezen, Osinga Jan, Jelkje J. Bergsma, Harrie Bijnen, Pieter van der Vlies, Eva van den Berg and Klaas Kok

      Article first published online: 30 APR 2012 | DOI: 10.1002/humu.22090

    5. A novel 13 base pair insertion in the sonic hedgehog ZRS limb enhancer (ZRS/LMBR1) causes preaxial polydactyly with triphalangeal thumb (pages 1063–1066)

      Tobias Laurell, Julia E. VanderMeer, Aaron M. Wenger, Giedre Grigelioniene, Agneta Nordenskjöld, Marianne Arner, Anna Gerber Ekblom, Gill Bejerano, Nadav Ahituv and Ann Nordgren

      Article first published online: 11 MAY 2012 | DOI: 10.1002/humu.22097

  6. Research Articles

    1. Top of page
    2. In This Issue
    3. Reviews
    4. Databases
    5. Rapid Communications
    6. Brief Reports
    7. Research Articles
    1. MUTYH gene expression and alternative splicing in controls and polyposis patients (pages 1067–1074)

      Guido Plotz, Markus Casper, Jochen Raedle, Inga Hinrichsen, Verena Heckel, Angela Brieger, Jörg Trojan and Stefan Zeuzem

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22059

    2. Chromosomal variation in lymphoblastoid cell lines (pages 1075–1086)

      Matthew D. Shirley, Joseph D. Baugher, Eric L. Stevens, Zhenya Tang, Norman Gerry, Christine M. Beiswanger, Dorit S. Berlin and Jonathan Pevsner

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22062

    3. Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe (pages 1087–1098)

      Justin P. Rubio, Simon Topp, Liling Warren, Pamela L. St. Jean, Daniel Wegmann, Darren Kessner, John Novembre, Judong Shen, Dana Fraser, Jennifer Aponte, Keith Nangle, Lon R. Cardon, Margaret G. Ehm, Stephanie L. Chissoe, John C. Whittaker, Matthew R. Nelson and Vincent E. Mooser

      Article first published online: 4 APR 2012 | DOI: 10.1002/humu.22075

    4. More single-nucleotide mutations surround small insertions than small deletions in primates (pages 1099–1106)

      Shengfeng Huang, Ting Yu, Zelin Chen, Shaochun Yuan, Shangwu Chen and Anlong Xu

      Article first published online: 9 APR 2012 | DOI: 10.1002/humu.22085

    5. Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene (pages 1107–1115)

      Manshu Tang, Angelo Facchiano, Rakesh Rachamadugu, Fernanda Calderon, Rong Mao, Luciano Milanesi, Anna Marabotti and Kent Lai

      Article first published online: 30 APR 2012 | DOI: 10.1002/humu.22093

    6. SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi–goutières syndrome-associated mutations (pages 1116–1122)

      Adriana Goncalves, Evren Karayel, Gillian I Rice, Keiryn L Bennett, Yanick J Crow, Giulio Superti-Furga and Tilmann Bürckstümmer

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22087

    7. 11q13 is a susceptibility locus for hormone receptor positive breast cancer (pages 1123–1132)

      Diether Lambrechts, Therese Truong, Christina Justenhoven, Manjeet K. Humphreys, Jean Wang, John L. Hopper, Gillian S. Dite, Carmel Apicella, Melissa C. Southey, Marjanka K. Schmidt, Annegien Broeks, Sten Cornelissen, Richard van Hien, Elinor Sawyer, Ian Tomlinson, Michael Kerin, Nicola Miller, Roger L. Milne, M. Pilar Zamora, José Ignacio Arias Pérez, Javier Benítez, Ute Hamann, Yon-Dschun Ko, Thomas Brüning, The GENICA Network, Jenny Chang-Claude, Ursel Eilber, Rebecca Hein, Stefan Nickels, Dieter Flesch-Janys, Shan Wang-Gohrke, Esther M. John, Alexander Miron, Robert Winqvist, Katri Pylkäs, Arja Jukkola-Vuorinen, Mervi Grip, Georgia Chenevix-Trench, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, Australian Ovarian Cancer Study Group, Florence Menegaux, Emilie Cordina-Duverger, Chen-Yang Shen, Jyh-Cherng Yu, Pei-Ei Wu, Ming-Feng Hou, Irene L. Andrulis, Teresa Selander, Gord Glendon, Anna Marie Mulligan, Hoda Anton-Culver, Argyrios Ziogas, Kenneth R. Muir, Artitaya Lophatananon, Suthee Rattanamongkongul, Puttisak Puttawibul, Michael Jones, Nicholas Orr, Alan Ashworth, Anthony Swerdlow, Gianluca Severi, Laura Baglietto, Graham Giles, Melissa Southey, Federik Marmé, Andreas Schneeweiss, Christof Sohn, Barbara Burwinkel, Betul T. Yesilyurt, Patrick Neven, Robert Paridaens, Hans Wildiers, Hermann Brenner, Heiko Müller, Volker Arndt, Christa Stegmaier, Alfons Meindl, Sarah Schott, Claus R. Bartram, Rita K. Schmutzler, Angela Cox, Ian W. Brock, Graeme Elliott, Simon S. Cross, Peter A. Fasching, Ruediger Schulz-Wendtland, Arif B. Ekici, Matthias W. Beckmann, Olivia Fletcher, Nichola Johnson, Isabel dos Santos Silva, Julian Peto, Heli Nevanlinna, Taru A. Muranen, Kristiina Aittomäki, Carl Blomqvist, Thilo Dörk, Peter Schürmann, Michael Bremer, Peter Hillemanns, Natalia V. Bogdanova, Natalia N. Antonenkova, Yuri I. Rogov, Johann H. Karstens, Elza Khusnutdinova, Marina Bermisheva, Darya Prokofieva, Shamil Gancev, Anna Jakubowska, Jan Lubinski, Katarzyna Jaworska, Katarzyna Durda, Børge G. Nordestgaard, Stig E. Bojesen, Charlotte Lanng, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Jaana M. Hartikainen, Paolo Radice, Paolo Peterlongo, Siranoush Manoukian, Loris Bernard, Fergus J. Couch, Janet E. Olson, Xianshu Wang, Zachary Fredericksen, Grethe Grenaker Alnæs, Vessela Kristensen, Anne-Lise Børresen-Dale, Peter Devilee, Robert A.E.M. Tollenaar, Caroline M. Seynaeve, Maartje J. Hooning, Montserrat García-Closas, Stephen J. Chanock, Jolanta Lissowska, Mark E. Sherman, Per Hall, Jianjun Liu, Kamila Czene, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Annika Lindblom, Sara Margolin, Alison M. Dunning, Paul D.P. Pharoah, Douglas F. Easton, Pascal Guénel and Hiltrud Brauch

      Article first published online: 30 APR 2012 | DOI: 10.1002/humu.22089

    8. Systematic analysis and functional annotation of variations in the genome of an Indian individual (pages 1133–1140)

      Ashok Patowary, Ramya Purkanti, Meghna Singh, Rajendra Kumar Chauhan, Deeksha Bhartiya, Om Prakash Dwivedi, Ganesh Chauhan, Dwaipayan Bharadwaj, Sridhar Sivasubbu and Vinod Scaria

      Article first published online: 16 APR 2012 | DOI: 10.1002/humu.22091

    9. Splice site, frameshift, and chimeric GFAP mutations in Alexander disease (pages 1141–1148)

      Daniel Flint, Rong Li, Lital S. Webster, Sakkubai Naidu, Edwin Kolodny, Alan Percy, Marjo van der Knaap, James M. Powers, John F. Mantovani, Josef Ekstein, James E. Goldman, Albee Messing and Michael Brenner

      Article first published online: 30 APR 2012 | DOI: 10.1002/humu.22094

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