Human Mutation

Cover image for Human Mutation

July 2006

Volume 27, Issue 7

Pages 603–720

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
  2. Mutation Updates

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
    1. TGFBI gene mutations in corneal dystrophies (pages 615–625)

      Chitra Kannabiran and Gordon K. Klintworth

      Version of Record online: 8 MAY 2006 | DOI: 10.1002/humu.20334

    2. Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene (pages 626–632)

      Saori Yamaguchi, Lisa L. Brailey, Hiroki Morizono, Allen E. Bale and Mendel Tuchman

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.20339

  3. Rapid Communications

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
    1. Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss (pages 633–639)

      Ersan Kalay, Yun Li, Abdullah Uzumcu, Oya Uyguner, Rob W. Collin, Refik Caylan, Melike Ulubil-Emiroglu, Ferry F.J. Kersten, Gunter Hafiz, Erwin van Wijk, Hulya Kayserili, Edyta Rohmann, Janine Wagenstaller, Lies H. Hoefsloot, Tim M. Strom, Gudrun Nürnberg, Nermin Baserer, Anneke I. den Hollander, Frans P.M. Cremers, Cor W.R.J. Cremers, Christian Becker, Han G. Brunner, Peter Nürnberg, Ahmet Karaguzel, Seher Basaran, Christian Kubisch, Hannie Kremer and Bernd Wollnik

      Version of Record online: 2 JUN 2006 | DOI: 10.1002/humu.20368

    2. A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria (pages 640–643)

      H. Bikker, H.D. Bakker, N.G.G.M. Abeling, B.T. Poll-The, W.J. Kleijer, D.S. Rosenblatt, H.R. Waterham, R.J.A. Wanders and M. Duran

      Version of Record online: 2 JUN 2006 | DOI: 10.1002/humu.20373

  4. Research Articles

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
    1. Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations (pages 644–653)

      Carlo Rivolta, Terri L. McGee, Thomas Rio Frio, Roderick V. Jensen, Eliot L. Berson and Thaddeus P. Dryja

      Version of Record online: 17 MAY 2006 | DOI: 10.1002/humu.20325

    2. A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting (pages 654–666)

      Annemarie H. van der Hout, Ans M.W. van den Ouweland, Rob B. van der Luijt, Hans J.P. Gille, Daniëlle Bodmer, Hennie Brüggenwirth, Inge M. Mulder, Pieter van der Vlies, Peter Elfferich, Maarten T. Huisman, Annelies M. ten Berge, Joan Kromosoeto, Rumo P.M. Jansen, Patrick H.A. van Zon, Thyrsa Vriesman, Neeltje Arts, Majella Boutmy-de Lange, Jan C. Oosterwijk, Hanne Meijers-Heijboer, Margreet G.E.M. Ausems, Nicoline Hoogerbrugge, Senno Verhoef, Dicky J.J. Halley, Yvonne J. Vos, Frans Hogervorst, Marjolijn Ligtenberg and Robert M.W. Hofstra

      Version of Record online: 8 MAY 2006 | DOI: 10.1002/humu.20340

    3. Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution (pages 676–685)

      Benoît Guillet, Thierry Lambert, Roseline d'Oiron, Valérie Proulle, Jean-Luc Plantier, Anne Rafowicz, Jocelyne Peynet, Jean-Marc Costa, Laurence Bendelac, Yves Laurian and Jean-Maurice Lavergne

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.20345

    4. Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Aβ42 and decreased Aβ40 (pages 686–695)

      Samir Kumar-Singh, Jessie Theuns, Bianca Van Broeck, Daniel Pirici, Krist'l Vennekens, Ellen Corsmit, Marc Cruts, Bart Dermaut, Rong Wang and Christine Van Broeckhoven

      Version of Record online: 2 JUN 2006 | DOI: 10.1002/humu.20336

    5. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1 (pages 696–704)

      Allan J. Richards, Maureen Laidlaw, Joanne Whittaker, Becky Treacy, Harjeet Rai, Philip Bearcroft, David M. Baguley, Arabella Poulson, Alan Ang, John D. Scott and Martin P. Snead

      Version of Record online: 2 JUN 2006 | DOI: 10.1002/humu.20347

    6. Mutations in two regions of FLNB result in atelosteogenesis I and III (pages 705–710)

      Claire Farrington-Rock, Marc H. Firestein, Louise S. Bicknell, Andrea Superti-Furga, Carlos A. Bacino, Valerie Cormier-Daire, Martine Le Merrer, Clarisse Baumann, Joelle Roume, Patrick Rump, Joke B.G.M. Verheij, Elizabeth Sweeney, David L. Rimoin, Ralph S. Lachman, Stephen P. Robertson, Daniel H. Cohn and Deborah Krakow

      Version of Record online: 2 JUN 2006 | DOI: 10.1002/humu.20348

  5. Special Article

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
    1. A quality assessment survey of SNP genotyping laboratories (pages 711–714)

      Päivi Lahermo, Ulrika Liljedahl, Grethe Alnaes, Tomas Axelsson, Anthony J. Brookes, Pekka Ellonen, Per-Henrik Groop, Christer Halldén, Dan Holmberg, Kristina Holmberg, Mauri Keinänen, Katrin Kepp, Juha Kere, Päivi Kiviluoma, Vessela Kristensen, Cecilia Lindgren, Jacob Odeberg, Pia Osterman, Maija Parkkonen, Janna Saarela, Maria Sterner, Linda Strömqvist, Ulvi Talas, Maija Wessman, Aarno Palotie and Ann-Christine Syvänen

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.20346

  6. Mutations in Brief

    1. Top of page
    2. Review Articles
    3. Mutation Updates
    4. Rapid Communications
    5. Research Articles
    6. Special Article
    7. Mutations in Brief
    1. In vitro analysis of genomic instability triggered by BRCA1 missense mutations (page 715)

      Barbara Quaresima, Maria Concetta Faniello, Francesco Baudi, Telma Crugliano, Giovanni Cuda, Francesco Costanzo and Salvatore Venuta

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9427

    2. Mutational spectrum of maple syrup urine disease in Spain (page 715)

      Pilar Rodríguez-Pombo, Rosa Navarrete, Begoña Merinero, Paulino Gómez-Puertas and Magdalena Ugarte

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9428

    3. The heterogeneous nature of germline mutations in NF1 patients with malignant peripheral serve sheath tumours (MPNSTs) (page 716)

      Meena Upadhyaya, Gill Spurlock, Elisa Majounie, Sian Griffiths, Natalie Forrester, Mike Baser, Susan M. Huson, D. Gareth Evans and Rosalie Ferner

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9429

    4. Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV (page 716)

      Rebecca Pollitt, Robert McMahon, Janice Nunn, Robert Bamford, Amal Afifi, Nicholas Bishop and Ann Dalton

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9430

    5. A new large CFTR rearrangement illustrates the importance of searching for complex alleles (pages 716–717)

      F. Niel, M. Legendre, T. Bienvenu, E. Bieth, G. Lalau, I. Sermet, D. Bondeux, R. Boukari, J. Derelle, P. Levy, P. Ruszniewski, J. Martin, C. Costa, M. Goossens and E. Girodon

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9431

    6. Genetic variability, haplotypes, and htSNPs for exons 1 at the human UGT1A locus (page 717)

      Sushma S. Thomas, Shuying S. Li, Johanna W. Lampe, John D. Potter and Jeannette Bigler

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9432

    7. Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation (pages 717–718)

      Steven A. Lietman, Natasha Kalinchinko, Xichao Deng, Ronald Kohanski and Michael A. Levine

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9433

    8. McArdle disease: the mutation spectrum of PYGM in a large Italian cohort (page 718)

      Claudio Bruno, Denise Cassandrini, Andrea Martinuzzi, Antonio Toscano, Maurizio Moggio, Lucia Morandi, Serena Servidei, Tiziana Mongini, Corrado Angelini, Olimpia Musumeci, Giacomo P. Comi, Costanza Lamperti, Massimiliano Filosto, Federico Zara and Carlo Minetti

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9434

    9. Werner syndrome and mutations of the WRN and LMNA genes in France (pages 718–719)

      Nancy A. Uhrhammer, Laurence Lafarge, Laetitia Dos Santos, Anna Domaszewska, Magdalena Lange, Yong Yang, Selim Aractingi, Didier Bessis and Yves-Jean Bignon

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9435

    10. A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population (page 719)

      Mahmoud F. El-Said, Ramin Badii, M.S. Bessisso, Noora Shahbek, Mariam G. El-Ali, Mariam El-Marikhie, M. El-Zyoid, M.S.Z. Salem, Abdulbari Bener, Georg F. Hoffmann and Johannes Zschocke

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9436

    11. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly (pages 719–720)

      Felix B. Müller, Wolfgang Küster, Kerstin Wodecki, Hiram Almeida Jr., Leena Bruckner-Tuderman, Thomas Krieg, Bernhard P. Korge and Meral J. Arin

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9437

    12. Sub-Saharan African coding sequence variation and haplotype diversity at the NAT2 gene (page 720)

      Etienne Patin, Christine Harmant, Ken K. Kidd, Judith Kidd, Alain Froment, S. Qasim Mehdi, Lucas Sica, Evelyne Heyer and Lluís Quintana-Murci

      Version of Record online: 19 JUN 2006 | DOI: 10.1002/humu.9438

SEARCH

SEARCH BY CITATION