Human Mutation

Cover image for Human Mutation

December 2005

Volume 26, Issue 6

Pages 499–592

  1. Editorial

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. You have free access to this content
      Toward a Human Variome Project (page 499)

      Richard G.H. Cotton and Haig H. Kazazian Jr.

      Article first published online: 24 OCT 2005 | DOI: 10.1002/humu.20272

  2. Mutation Update

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A) (pages 500–512)

      Shunji Tomatsu, Adriana M. Montaño, Tatsuo Nishioka, Monica A. Gutierrez, Olga M. Peña, Georgeta G. Tranda firescu, Patricia Lopez, Seiji Yamaguchi, Akihiko Noguchi and Tadao Orii

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20257

  3. Rapid Communication

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome (pages 513–519)

      Stefan Aretz, Dietlinde Stienen, Siegfried Uhlhaas, Steffan Loff, Walter Back, Constanze Pagenstecher, D. Ross McLeod, Gail E. Graham, Elisabeth Mangold, René Santer, Peter Propping and Waltraut Friedl

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20253

    2. Mutation rates at Y chromosome specific microsatellites (pages 520–528)

      L. Gusmão, P. Sánchez-Diz, F. Calafell, P. Martín, C.A. Alonso, F. Álvarez-Fernández, C. Alves, L. Borjas-Fajardo, W.R. Bozzo, M.L. Bravo, J.J. Builes, J. Capilla, M. Carvalho, C. Castillo, C.I. Catanesi, D. Corach, A.M. Di Lonardo, R. Espinheira, E. Fagundes de Carvalho, M.J. Farfán, H.P. Figueiredo, I. Gomes, M.M. Lojo, M. Marino, M.F. Pinheiro, M.L. Pontes, V. Prieto, E. Ramos-Luis, J.A. Riancho, A.C. Souza Góes, O.A. Santapa, D.R. Sumita, G. Vallejo, L. Vidal Rioja, M.C. Vide, C.I. Vieira da Silva, M.R. Whittle, W. Zabala, M.T. Zarrabeitia, A. Alonso, A. Carracedo and A. Amorim

      Article first published online: 11 OCT 2005 | DOI: 10.1002/humu.20254

  4. Research Articles

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype–phenotype correlations in 76 patients with Marfan syndrome (pages 529–539)

      Kathrin Rommel, Matthias Karck, Axel Haverich, Yskert von Kodolitsch, Meike Rybczynski, Götz Müller, Krishna K. Singh, Jörg Schmidtke and Mine Arslan-Kirchner

      Article first published online: 11 OCT 2005 | DOI: 10.1002/humu.20239

  5. Research Article

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Identification of genetic aberrations on chromosome 22 outside the NF2 locus in schwannomatosis and neurofibromatosis type 2 (pages 540–549)

      Patrick G. Buckley, Kiran K. Mantripragada, Teresita Díaz de Ståhl, Arkadiusz Piotrowski, Caisa M. Hansson, Hajnalka Kiss, David Vetrie, Ingemar T. Ernberg, Magnus Nordenskjöld, Lars Bolund, Markku Sainio, Guy A. Rouleau, Michihito Niimura, Andrew J. Wallace, D. Gareth R. Evans, Gintautas Grigelionis, Uwe Menzel and Jan P. Dumanski

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20255

  6. Research Articles

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Update of the molecular basis of familial hypercholesterolemia in The Netherlands (pages 550–556)

      Sigrid W. Fouchier, John J.P. Kastelein and Joep C. Defesche

      Article first published online: 25 OCT 2005 | DOI: 10.1002/humu.20256

  7. Research Article

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. You have full text access to this OnlineOpen article
      Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3 (pages 557–565)

      Sally L. Cotterill, Gail C. Jackson, Matthew P. Leighton, Raimund Wagener, Outi Mäkitie, William G. Cole and Michael D. Briggs

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20263

  8. Research Articles

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy (pages 566–574)

      Matthew R.G. Taylor, Dobromir Slavov, Andreas Gajewski, Sylvia Vlcek, Lisa Ku, Pamela R. Fain, Elisa Carniel, Andrea Di Lenarda, Gianfranco Sinagra, Mark M. Boucek, Jean Cavanaugh, Sharon L. Graw, Patsy Ruegg, Jennie Feiger, Xiao Zhu, Debra A. Ferguson, Michael R. Bristow, Josef Gotzmann, Roland Foisner and Luisa Mestroni

      Article first published online: 24 OCT 2005 | DOI: 10.1002/humu.20250

  9. Research Article

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. Identification and functional analysis of CITED2 mutations in patients with congenital heart defects (pages 575–582)

      Silke Sperling, Christina H. Grimm, Ilona Dunkel, Siegrun Mebus, Hans-Peter Sperling, Arno Ebner, Raffaello Galli, Hans Lehrach, Christoph Fusch, Felix Berger and Stefanie Hammer

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20262

    2. Younger birth cohort correlates with higher breast and ovarian cancer risk in European BRCA1 mutation carriers (pages 583–589)

      Regina Kroiss, Verena Winkler, Diana Bikas, Elisabeth Fleischmann, Claudia Mainau, Florian Frommlet, Daniela Muhr, Christine Fuerhauser, Maria Tea, Barbara Bittner, Ernst Kubista, Peter J. Oefner, Peter Bauer and Teresa M.U. Wagner

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.20261

  10. Errata

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. You have free access to this content
      cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression (page 590)

      Petra Zavadáková, Brian Fowler, Terttu Suormala, Zorka Novotna, Peter Mueller, Julia B. Hennermann, Jiří Zeman, M. Antonia Vilaseca, Laura Vilarinho, Sven Gutsche, Ekkehard Wilichowski, Gerd Horneff and Viktor Kožich

      Article first published online: 24 OCT 2005 | DOI: 10.1002/humu.20270

  11. Mutations in Brief

    1. Top of page
    2. Editorial
    3. Mutation Update
    4. Rapid Communication
    5. Research Articles
    6. Research Article
    7. Research Articles
    8. Research Article
    9. Research Articles
    10. Research Article
    11. Errata
    12. Mutations in Brief
    1. You have free access to this content
      Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss (page 591)

      E. Kalay, A. Karaguzel, R. Caylan, A. Heister, F.P.M. Cremers, C.W.R.J. Cremers, H.G. Brunner, A.P.M. de Brouwer and H. Kremer

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.9384

    2. You have free access to this content
      The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations (page 591)

      Gideon Bach, Michael B.T. Webb, Ruth Bargal, Marcia Zeigler and Joseph Ekstein

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.9385

    3. You have free access to this content
      Erratum: Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia (page 592)

      Delphine Allard, Sabine Amsellem, Marianne Abifadel, Mélanie Trillard, Martine Devillers, Gérald Luc, Michel Krempf, Yves Reznik, Jean-Philippe Girardet, Alexandre Fredenrich, Claudine Junien, Mathilde Varret, Catherine Boileau, Pascale Benlian and Jean-Pierre Rabès

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.9386

    4. You have free access to this content
      Erratum: A double missense variation of the BUB1 gene and a defective mitotic spindle checkpoint in the pancreatic cancer cell line Hs766T (page 592)

      Paula M. Hempen, Harsha Kurpad, Eric S. Calhoun, Susan Abraham and Scott E. Kern

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.9387

    5. You have free access to this content
      Erratum: Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies (page 592)

      Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq and Nicolas Lévy

      Article first published online: 14 NOV 2005 | DOI: 10.1002/humu.9388

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