Human Mutation

Cover image for Human Mutation

September 2007

Volume 28, Issue 9

Pages 831–928

  1. Wiley 200th Anniversary Tribute Articles

    1. Top of page
    2. Wiley 200th Anniversary Tribute Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. You have free access to this content
  2. Research Articles

    1. Top of page
    2. Wiley 200th Anniversary Tribute Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Progranulin null mutations in both sporadic and familial frontotemporal dementia (pages 846–855)

      Isabelle Le Ber, Julie van der Zee, Didier Hannequin, Ilse Gijselinck, Dominique Campion, Michèle Puel, Annie Laquerrière, Tim De Pooter, Agnès Camuzat, Marleen Van den Broeck, Bruno Dubois, François Sellal, Lucette Lacomblez, Martine Vercelletto, Catherine Thomas-Antérion, Bernard-François Michel, Véronique Golfier, Mira Didic, François Salachas, Charles Duyckaerts, Marc Cruts, Patrice Verpillat, Christine Van Broeckhoven and Alexis Brice

      Article first published online: 13 APR 2007 | DOI: 10.1002/humu.20520

    2. Large-scale population-based metabolic phenotyping of thirteen genetic polymorphisms related to one-carbon metabolism (pages 856–865)

      Åse Fredriksen, Klaus Meyer, Per Magne Ueland, Stein Emil Vollset, Tom Grotmol and Jørn Schneede

      Article first published online: 13 APR 2007 | DOI: 10.1002/humu.20522

    3. Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations—implications for diagnosis and therapeutic monitoring (pages 866–873)

      Marie E. Grace, Manisha Balwani, Irina Nazarenko, Ainu Prakash-Cheng and Robert J. Desnick

      Article first published online: 26 APR 2007 | DOI: 10.1002/humu.20524

    4. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia (pages 874–881)

      Stephen J. Salipante, Kathleen F. Benson, Joanna Luty, Valeh Hadavi, Roxana Kariminejad, Mohamad H. Kariminejad, Nima Rezaei and Marshall S. Horwitz

      Article first published online: 13 APR 2007 | DOI: 10.1002/humu.20529

    5. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes (pages 882–889)

      Casey L. Moulson, Loren G. Fong, Jennifer M. Gardner, Emily A. Farber, Gloriosa Go, Annalisa Passariello, Dorothy K. Grange, Stephen G. Young and Jeffrey H. Miner

      Article first published online: 27 APR 2007 | DOI: 10.1002/humu.20536

    6. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application (pages 890–896)

      Efraim H. Rosenberg, Cristina Martínez Muñoz, Ofir T. Betsalel, Silvy J.M. van Dooren, Matilde Fernandez, Cornelis Jakobs, Ton J. deGrauw, Tjitske Kleefstra, Charles E. Schwartz and Gajja S. Salomons

      Article first published online: 26 APR 2007 | DOI: 10.1002/humu.20532

    7. Mutational analysis of 105 mucopolysaccharidosis type VI patients (pages 897–903)

      Litsa Karageorgos, Doug A. Brooks, Anthony Pollard, Elizabeth L. Melville, Leanne K. Hein, Peter R. Clements, David Ketteridge, Stuart J. Swiedler, Michael Beck, Roberto Giugliani, Paul Harmatz, James E. Wraith, Nathalie Guffon, Elisa Leão Teles, M. Clara Sá Miranda and John J. Hopwood

      Article first published online: 25 APR 2007 | DOI: 10.1002/humu.20534

    8. Clinical, biochemical, and mutational spectrum of peroxisomal acyl–coenzyme A oxidase deficiency (pages 904–912)

      Sacha Ferdinandusse, Simone Denis, Eveline M. Hogenhout, Janet Koster, Carlo W.T. van Roermund, Lodewijk IJlst, Ann B. Moser, Ronald J.A. Wanders and Hans R. Waterham

      Article first published online: 25 APR 2007 | DOI: 10.1002/humu.20535

  3. Methods

    1. Top of page
    2. Wiley 200th Anniversary Tribute Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. Determination of haplotypes from single DNA molecules: a method for single-molecule barcoding (pages 913–921)

      Ming Xiao, Matthew P. Gordon, Angie Phong, Connie Ha, Ting-Fung Chan, Dongmei Cai, Paul R. Selvin and Pui-Yan Kwok

      Article first published online: 18 APR 2007 | DOI: 10.1002/humu.20528

    2. Novel Plexor™ SNP genotyping technology: comparisons with TaqMan® and homogenous MassEXTEND™ MALDI-TOF mass spectrometry (pages 922–927)

      E.A. Tindall, G. Speight, D.C. Petersen, E.J.D. Padilla and V.M. Hayes

      Article first published online: 25 APR 2007 | DOI: 10.1002/humu.20533

  4. Mutations in Brief

    1. Top of page
    2. Wiley 200th Anniversary Tribute Articles
    3. Research Articles
    4. Methods
    5. Mutations in Brief
    1. You have free access to this content
      Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene (page 928)

      Ida Annunziata, Valentina Bouchè, Alessia Lombardi, Carmine Settembre and Andrea Ballabio

      Article first published online: 26 JUL 2007 | DOI: 10.1002/humu.9504

    2. You have free access to this content
      The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations (page 928)

      Paolo Comeglio, Philip Johnson, Gavin Arno, Glen Brice, Alison Evans, José Aragon-Martin, Filipe Pereira da Silva, Anatoli Kiotsekoglou and Anne Child

      Article first published online: 26 JUL 2007 | DOI: 10.1002/humu.9505

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