Human Mutation

Cover image for Vol. 32 Issue 6

June 2011

Volume 32, Issue 6

Pages v–v, 573–703, E2134–E2258

  1. In This Issue

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
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    2. You have free access to this content
  2. Rapid Communication

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
    1. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus (pages 573–578)

      Ranad Shaheen, Eissa Faqeih, Mohammed Z. Seidahmed, Asma Sunker, Faten Ezzat Alali, AlQahtani Khadijah and Fowzan S. Alkuraya

      Version of Record online: 5 MAY 2011 | DOI: 10.1002/humu.21507

  3. Research Articles

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
    1. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations (pages 579–589)

      Johannes Häberle, Oleg A. Shchelochkov, Jing Wang, Panagiotis Katsonis, Lynn Hall, Sara Reiss, Angela Eeds, Alecia Willis, Meeta Yadav, Samantha Summar, and the Urea Cycle Disorders Consortium,, Olivier Lichtarge, Vicente Rubio, Lee-Jun Wong and Marshall Summar

      Version of Record online: 5 MAY 2011 | DOI: 10.1002/humu.21406

    2. Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations (pages 590–597)

      Sarah Ducamp, Caroline Kannengiesser, Mohamed Touati, Loïc Garçon, Agnès Guerci-Bresler, Jean François Guichard, Christiane Vermylen, Joaquim Dochir, Hélène A. Poirel, Fanny Fouyssac, Ludovic Mansuy, Geneviève Leroux, Gérard Tertian, Robert Girot, Hermann Heimpel, Thomas Matthes, Neila Talbi, Jean-Charles Deybach, Carole Beaumont, Hervé Puy and Bernard Grandchamp

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21455

      Corrected by:

      Erratum: Effects of siRNA Targeting c-Myc and VEGF on Human Colorectal Cancer Volo Cells

      Vol. 27, Issue 3, 229, Version of Record online: 8 FEB 2013

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      COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta (pages 598–609)

      Katarina Lindahl, Aileen M. Barnes, Nadja Fratzl-Zelman, Michael P. Whyte, Theresa E. Hefferan, Elena Makareeva, Marina Brusel, Michael J. Yaszemski, Carl-Johan Rubin, Andreas Kindmark, Paul Roschger, Klaus Klaushofer, William H. McAlister, Steven Mumm, Sergey Leikin, Efrat Kessler, Adele L. Boskey, Östen Ljunggren and Joan C. Marini

      Version of Record online: 7 APR 2011 | DOI: 10.1002/humu.21475

    4. BBS genotype–phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition (pages 610–619)

      Catherine Deveault, Gail Billingsley, Jacque L. Duncan, Jenea Bin, Rebecca Theal, Ajoy Vincent, Karen J. Fieggen, Christina Gerth, Nima Noordeh, Elias I. Traboulsi, Gerald A. Fishman, David Chitayat, Tanja Knueppel, José M. Millán, Francis L. Munier, Debra Kennedy, Samuel G. Jacobson, A. Micheil Innes, Grant A. Mitchell, Kym Boycott and Elise Héon

      Version of Record online: 22 MAR 2011 | DOI: 10.1002/humu.21480

    5. Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes (pages 620–632)

      Dobril Ivanov, Stephen E. Hamby, Peter D. Stenson, Andrew D. Phillips, Hildegard Kehrer-Sawatzki, David N. Cooper and Nadia Chuzhanova

      Version of Record online: 22 MAR 2011 | DOI: 10.1002/humu.21483

    6. Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity (pages 633–642)

      Jérémy Manry, Guillaume Laval, Etienne Patin, Simona Fornarino, Magali Tichit, Christiane Bouchier, Luis B. Barreiro and Lluis Quintana-Murci

      Version of Record online: 29 MAR 2011 | DOI: 10.1002/humu.21484

    7. Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family (pages 643–652)

      Meriem Ben-Ali, Beatrice Corre, Jérémy Manry, Luis B. Barreiro, Hélène Quach, Michele Boniotto, Sandra Pellegrini and Lluís Quintana-Murci

      Version of Record online: 25 MAY 2011 | DOI: 10.1002/humu.21486

    8. Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction (pages 653–660)

      Susanne Thiele, Luisa de Sanctis, Ralf Werner, Joachim Grötzinger, Cumhur Aydin, Harald Jüppner, Murat Bastepe and Olaf Hiort

      Version of Record online: 12 APR 2011 | DOI: 10.1002/humu.21489

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      Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed (pages 661–668)

      Stephanie Hicks, David A. Wheeler, Sharon E. Plon and Marek Kimmel

      Version of Record online: 7 APR 2011 | DOI: 10.1002/humu.21490

    10. A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14 (pages 669–677)

      Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, Sumaria Kanwal, Sun Wha Park, Heasoo Koo, Sang-Beom Kim, Young-Chul Choi, Jeong Hyun Yoo, Jong-Won Kim, Kee Duk Park, Kyoung-Gyu Choi, Song Ja Kim, Stephan Züchner and Ki Wha Chung

      Version of Record online: 7 APR 2011 | DOI: 10.1002/humu.21488

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      Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary (pages 678–687)

      Phillip J. Whiley, Lucia Guidugli, Logan C. Walker, Sue Healey, Bryony A. Thompson, Sunil R. Lakhani, Leonard M. Da Silva, kConFab Investigators, Sean V. Tavtigian, David E. Goldgar, Melissa A. Brown, Fergus J. Couch and Amanda B. Spurdle

      Version of Record online: 12 APR 2011 | DOI: 10.1002/humu.21495

  4. Methods

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
  5. Letters to the Editors

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
    1. You have full text access to this OnlineOpen article
  6. Meeting Reports

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium (pages 698–703)

      George P. Patrinos, Federico Innocenti, Nancy Cox and Paolo Fortina

      Version of Record online: 24 MAR 2011 | DOI: 10.1002/humu.21473

  7. Mutations in Brief

    1. Top of page
    2. In This Issue
    3. Rapid Communication
    4. Research Articles
    5. Methods
    6. Letters to the Editors
    7. Meeting Reports
    8. Mutations in Brief
    1. You have free access to this content
      Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation (pages E2134–E2147)

      Julia Vogt, Jürgen Kohlhase, Susanne Morlot, Lan Kluwe, Victor-Felix Mautner, David N. Cooper and Hildegard Kehrer-Sawatzki

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21476

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      Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma (pages E2148–E2175)

      Xiaomu Wei, Angela Moncada-Pazos, Santiago Cal, Clara Soria-Valles, Jared Gartner, Udo Rudloff, Jimmy C. Lin, NISC Comparative Sequencing Program, Steven A. Rosenberg, Carlos López-Otín and Yardena Samuels

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21477

      Corrected by:

      Erratum: Effects of Developmental Deltamethrin Exposure on White Adipose Tissue Gene Expression

      Vol. 27, Issue 4, 251–252, Version of Record online: 28 FEB 2013

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      Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer (pages E2176–E2188)

      Heide Hellebrand, Christian Sutter, Ellen Honisch, Eva Gross, Barbara Wappenschmidt, Christian Schem, Helmut Deißler, Nina Ditsch, Verena Gress, Marion Kiechle, Claus R. Bartram, Rita K. Schmutzler, Dieter Niederacher, Norbert Arnold and Alfons Meindl

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21478

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      IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles (pages E2189–E2210)

      Francesca Bertola, Mirella Filocamo, Giorgio Casati, Matthew Mort, Camillo Rosano, Anna Tylki-Szymanska, Beyhan Tüysüz, Orazio Gabrielli, Serena Grossi, Maurizio Scarpa, Giancarlo Parenti, Daniela Antuzzi, Jaime Dalmau, Maja Di Rocco, Carlo Dionisi Vici, Ilyas Okur, Jordi Rosell, Attilio Rovelli, Francesca Furlan, Miriam Rigoldi, Andrea Biondi, David N Cooper and Rossella Parini

      Version of Record online: 10 MAR 2011 | DOI: 10.1002/humu.21479

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      Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I (pages E2211–E2225)

      Annelies Rotthier, Anke Penno, Bernd Rautenstrauss, Michaela Auer-Grumbach, Georg M. Stettner, Bob Asselbergh, Kim Van Hoof, Heinrich Sticht, Nicolas Lévy, Vincent Timmerman, Thorsten Hornemann and Katrien Janssens

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21481

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      miRvar: A comprehensive database for genomic variations in microRNAs (pages E2226–E2245)

      Deeksha Bhartiya, Saurabh V. Laddha, Arijit Mukhopadhyay and Vinod Scaria

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21482

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      Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa (pages E2246–E2258)

      Paola Benaglio, Terri L. McGee, Leonardo P. Capelli, Shyana Harper, Eliot L. Berson and Carlo Rivolta

      Version of Record online: 24 FEB 2011 | DOI: 10.1002/humu.21485

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