Human Mutation

Cover image for Human Mutation

Special Issue: Focus on Pharmacogenetics

April 2008

Volume 29, Issue 4

Pages 453–565

  1. Commentary

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
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      Human genome variation and pharmacogenetics (pages 453–455)

      Bruce Gottlieb

      Article first published online: 10 MAR 2008 | DOI: 10.1002/humu.20728

  2. Databases

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
  3. Methods

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      Discovery of genetic profiles impacting response to chemotherapy: application to gemcitabine (pages 461–467)

      Hamdi Jarjanazi, Jeffrey Kiefer, Sevtap Savas, Laurent Briollais, Sukru Tuzmen, Noel Pabalan, Irada Ibrahim-Zada, Spyro Mousses and Hilmi Ozcelik

      Article first published online: 10 MAR 2008 | DOI: 10.1002/humu.20732

  4. Rapid Communication

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Transcriptional deregulation and a missense mutation define ANKRD1 as a candidate gene for total anomalous pulmonary venous return (pages 468–474)

      Raffaella Cinquetti, Ileana Badi, Marina Campione, Elisabetta Bortoletto, Giulia Chiesa, Cinzia Parolini, Chiara Camesasca, Antonella Russo, Roberto Taramelli and Francesco Acquati

      Article first published online: 13 FEB 2008 | DOI: 10.1002/humu.20711

  5. Research Articles

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Patterns of missplicing caused by RB1 gene mutations in patients with retinoblastoma and association with phenotypic expression (pages 475–484)

      Katherine Zhang, Inga Nowak, Diane Rushlow, Brenda L. Gallie and Dietmar R. Lohmann

      Article first published online: 7 JAN 2008 | DOI: 10.1002/humu.20664

    2. Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls (pages 485–490)

      Coro Paisán-Ruíz, Priti Nath, Nicole Washecka, J. Raphael Gibbs and Andrew B. Singleton

      Article first published online: 22 JAN 2008 | DOI: 10.1002/humu.20668

    3. Sequence variation in the ATP-binding domain of the Wilson disease transporter, ATP7B, affects copper transport in a yeast model system (pages 491–501)

      Gloria Hsi, Lara M. Cullen, Georgina Macintyre, Matthew M. Chen, D. Moira Glerum and Diane W. Cox

      Article first published online: 17 JAN 2008 | DOI: 10.1002/humu.20674

    4. Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function (pages 502–511)

      Saima Riazuddin, Sabiha Nazli, Zubair M. Ahmed, Yi Yang, Fareeha Zulfiqar, Rehan S. Shaikh, Ahmed U. Zafar, Shaheen N. Khan, Farooq Sabar, Fouzia T. Javid, Edward R. Wilcox, Ekaterini Tsilou, Erich T. Boger, James R. Sellers, Inna A. Belyantseva, Sheikh Riazuddin and Thomas B. Friedman

      Article first published online: 7 JAN 2008 | DOI: 10.1002/humu.20677

    5. Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia (pages 512–521)

      Odity Mukherjee, Jun Wang, Michael Gitcho, Sumi Chakraverty, Lisa Taylor-Reinwald, Shantia Shears, John S.K. Kauwe, Joanne Norton, Denise Levitch, Eileen H. Bigio, Kimmo J. Hatanpaa, Charles L. White, John C. Morris, Nigel J. Cairns and Alison Goate

      Article first published online: 8 JAN 2008 | DOI: 10.1002/humu.20681

    6. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia (pages 522–531)

      Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa, Gaetano Villani, Consiglia Pacelli, Manuela Sironi, Uberto Pozzoli, Maria Grazia D'Angelo, Giovanni Meola, Andrea Martinuzzi, Claudia Crimella, Francesca Redaelli, Chris Panzeri, Alessandra Renieri, Giacomo Pietro Comi, Anna Carla Turconi, Nereo Bresolin and Maria Teresa Bassi

      Article first published online: 16 JAN 2008 | DOI: 10.1002/humu.20682

    7. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene (pages 532–536)

      Mirjam M.C. Wamelink, Eduard A. Struys, Erwin E.W. Jansen, Elena N. Levtchenko, Fokje S.M. Zijlstra, Udo Engelke, Henk J. Blom, Cornelis Jakobs and Ron A. Wevers

      Article first published online: 10 JAN 2008 | DOI: 10.1002/humu.20685

    8. Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR (pages 537–544)

      Dana J. Orten, Stephanie M. Fischer, Jessica L. Sorensen, Uppala Radhakrishna, Cor W.R.J. Cremers, Henri A.M. Marres, Guy Van Camp, Katherine O. Welch, Richard J.H. Smith and William J. Kimberling

      Article first published online: 25 JAN 2008 | DOI: 10.1002/humu.20691

    9. Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding (pages 545–554)

      Rob W.J. Collin, Ramesh Chellappa, Robert-Jan Pauw, Gert Vriend, Jaap Oostrik, Wendy van Drunen, Patrick L. Huygen, Ronald Admiraal, Lies H. Hoefsloot, Frans P.M. Cremers, Mengqing Xiang, Cor W.R.J. Cremers and Hannie Kremer

      Article first published online: 28 JAN 2008 | DOI: 10.1002/humu.20693

  6. Methods

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH) (pages 555–564)

      Johan Staaf, Therese Törngren, Eva Rambech, Ulla Johansson, Camilla Persson, Gunilla Sellberg, Lina Tellhed, Mef Nilbert and Åke Borg

      Article first published online: 18 JAN 2008 | DOI: 10.1002/humu.20678

  7. Mutations in Brief

    1. Top of page
    2. Commentary
    3. Databases
    4. Methods
    5. Rapid Communication
    6. Research Articles
    7. Methods
    8. Mutations in Brief
    1. You have free access to this content
      SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR (page 565)

      Amit Kochhar, Dana J. Orten, Jessica L. Sorensen, Stephanie M. Fischer, Cor W. R. J. Cremers, William J. Kimberling and Richard J.H. Smith

      Article first published online: 10 MAR 2008 | DOI: 10.1002/humu.20714

    2. You have free access to this content
      PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum (page 565)

      Roberta Marongiu, Alessandro Ferraris, Tàmara Ialongo, Silvia Michiorri, Francesco Soleti, Francesca Ferrari, Antonio E. Elia, Daniele Ghezzi, Alberto Albanese, Maria Concetta Altavista, Angelo Antonini, Paolo Barone, Livia Brusa, Pietro Cortelli, Paolo Martinelli, Maria Teresa Pellecchia, Gianni Pezzoli, Cesa Scaglione, Paolo Stanzione, Michele Tinazzi, Anna Zecchinelli, Massimo Zeviani, Emanuele Cassetta, Barbara Garavaglia, Bruno Dallapiccola, Anna Rita Bentivoglio and Enza Maria Valente

      Article first published online: 10 MAR 2008 | DOI: 10.1002/humu.20719

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